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Version 2.5
Creation Date 2005-06-13 13:24:05
Update Date 2009-06-23 18:08:01
Primary Accession Number DB00887
Secondary Accession Number
  • APRD00294
Name Bumetanide
Drug Type
  • Approved
  • Small Molecule
Description A sulfamyl diuretic. [PubChem]
Synonyms
  1. Bumetanida [INN-Spanish]
  2. Bumetanidum [INN-Latin]
Brand Names
  1. Bumex
  2. Burine
  3. Burinex
  4. Fontego
  5. Fordiuran
  6. Lixil
  7. Lunetoron
  8. Segurex
Brand Mixtures Not Available
Chemical IUPAC Name 3-butylamino-4-(phenoxy)-5-sulfamoylbenzoic acid
Chemical Formula C17H20N2O5S
Chemical Structure Structure
CAS Registry Number 28395-03-1
InChI Identifier InChI=1/C17H20N2O5S/c1-2-3-9-19-14-10-12(17(20)21)11-15(25(18,22)23)16(14)24-13-7-5-4-6-8-13/h4-8,10-11,19H,2-3,9H2,1H3,(H,20,21)(H2,18,22,23)/f/h20H,18H2
InChI Key MAEIEVLCKWDQJH-VFSNKAIFCQ
KEGG Drug D00247 Link Image
KEGG Compound Not Available
PubChem Compound 2471 Link Image
PubChem Substance 175984 Link Image
ChEBI ID Not Available
PharmGKB ID PA448682 Link Image
HET ID Not Available
GenBank ID Not Available
Drug ID Number [DIN] 00728284 Link Image
RxList Link http://www.rxlist.com/cgi/generic2/bumetan.htm Link Image
PDRhealth Link http://www.pdrhealth.com/drug_info/rxdrugprofiles/drugs/bum1058.shtml Link Image
Wikipedia Link http://en.wikipedia.org/wiki/Bumetanide Link Image
FDA Label
Material Safety Data Sheet (MSDS)
Synthesis Reference J. Med. Chem. 14, 432 (1971)
Average Molecular Weight 364.4160
Monoisotopic Molecular Weight 364.1093
State Solid
Melting Point 230-231 oC
Experimental Water Solubility >20 mg/mL (in base) Source: PhysProp
Predicted Water Solubility 2.57e-02 mg/mL Calculated using ALOGPS
Experimental LogP/Hydrophobicity 2.6 Source: PhysProp
Predicted LogP 3.45 Calculated using ALOGPS
Experimental LogS Not Available
Predicted LogS -4.15 Calculated using ALOGPS
Experimental Caco2 Permeability Not Available
pKa/Isoelectric Point Not Available
Mass Spectrum Not Available
MOL File Show Link Image | Download Link Image
SDF File Show Link Image | Download Link Image
PDB File Show Link Image | Download Link Image
2D Structure
3D Structure
Experimental PDB ID Not Available
Isomeric SMILES CCCCNC1=C(OC2=CC=CC=C2)C(=CC(=C1)C(O)=O)S(N)(=O)=O
Canonical SMILES CCCCNC1=C(OC2=CC=CC=C2)C(=CC(=C1)C(O)=O)S(N)(=O)=O
Drug Category
  • Diuretics
  • Diuretics, Sulfamyl
  • Sodium Potassium Chloride Symporter Inhibitors
ATC Codes
AHFS Codes
  • 40:28.08
Indication For the treatment of edema associated with congestive heart failure, hepatic and renal disease including the nephrotic syndrome.
Pharmacology Bumetanide is a loop diuretic of the sulfamyl category to treat heart failure. It is often used in patients in whom high doses of furosemide are ineffective. There is however no reason not to use bumetanide as a first choice drug. The main difference between the two substances is in bioavailability. It is said to be a more predictable diuretic, meaning that the predictable absorption is reflected in a more predictable effect. Bumetanide is 40 times more potent than furosemide (for patients with normal renal function).
Mechanism of Action Bumetanide interferes with renal cAMP and/or inhibits the sodium-potassium ATPase pump. Bumetanide appears to block the active reabsorption of chloride and possibly sodium in the ascending loop of Henle, altering electrolyte transfer in the proximal tubule. This results in excretion of sodium, chloride, and water and, hence, diuresis.
Absorption Bumetanide is completely absorbed (80%), and the absorption is not altered when taken with food. Bioavailability is almost complete.
Toxicity Overdosage can lead to acute profound water loss, volume and electrolyte depletion, dehydration, reduction of blood volume and circulatory collapse with a possibility of vascular thrombosis and embolism. Electrolyte depletion may be manifested by weakness, dizziness, mental confusion, anorexia, lethargy, vomiting and cramps. Treatment consists of replacement of fluid and electrolyte losses by careful monitoring of the urine and electrolyte output and serum electrolyte levels.
Protein Binding 97%
Biotransformation 45% is secreted unchanged. Urinary and biliary metabolites are formed by oxidation of the N-butyl side chain.
Half Life 60-90 minutes
Dosage Forms
Form Route
Tablet Oral
Patient Information Show Link Image
Contraindications Show Link Image
Interactions Show Link Image
Drug Interactions
Drug Interaction
Amikacin Increased ototoxicity
Cisplatin Increased ototoxicity
Deslanoside Possible electrolyte variations and arrhythmias
Digitoxin Possible electrolyte variations and arrhythmias
Digoxin Possible electrolyte variations and arrhythmias
Gentamicin Increased ototoxicity
Ginseng Ginseng decreases the therapeutic effect of diuretic
Ibuprofen The NSAID decreases the diuretic and antihypertensive effects of the loop diuretic
Indomethacin The NSAID decreases the diuretic and antihypertensive effects of the loop diuretic
Kanamycin Increased ototoxicity
Netilmicin Increased ototoxicity
Streptomycin Increased ototoxicity
Sulindac The NSAID decreases the diuretic and antihypertensive effects of the loop diuretic
Tobramycin Increased ototoxicity
Food Interactions
  • Take with food to reduce irritation.
Pathways
Name SMPDB Link KEGG Link
Bumetanide Pathway SMP00088 Link Image
General References
  1. Drugs.com Link Image
  2. Wikipedia Link Image
  3. RxList Link Image
  4. PDRhealth Link Image
Organisms Affected
  • Humans and other mammals
Targets
  1. Solute carrier family 12 member 5
  2. Solute carrier family 12 member 2
  3. Solute carrier family 12 member 1
  4. Solute carrier family 12 member 4
  5. Cystic fibrosis transmembrane conductance regulator
Drug Target 1 [top]
Target 1 ID 53
Target 1 Name Solute carrier family 12 member 5
Target 1 Synonyms
  1. Electroneutral potassium-chloride cotransporter 2
  2. Erythroid K-Cl cotransporter 2
  3. Neuronal K-Cl cotransporter
  4. hKCC2
Target 1 Gene Name SLC12A5
Target 1 Protein Sequence >Solute carrier family 12 member 5 
MLNNLTDCEDGDGGANPGDGNPKESSPFINSTDTEKGKEYDGKNMALFEEEMDTSPMVSS
LLSGLANYTNLPQGSREHEEAENNEGGKKKPVQAPRMGTFMGVYLPCLQNIFGVILFLRL
TWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAV
GLCFYLGTTFAGAMYILGTIEILLAYLFPAMAIFKAEDASGEAAAMLNNMRVYGTCVLTC
MATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIKSAFDPPNFPICLLGNRTLSRHGFD
VCAKLAWEGNETVTTRLWGLFCSSRFLNATCDEYFTRNNVTEIQGIPGAASGLIKENLWS
SYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMTSYFTLLVGIYFPSVTGIMAGSNR
SGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACIEGVVLRDKFGEAVNGNLVVGTLA
WPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDGIVPFLQVFGHGKANGEPTWALLL
TACICEIGILIASLDEVAPILSMFFLMCYMFVNLACAVQTLLRTPNWRPRFRYYHWTLSF
LGMSLCLALMFICSWYYALVAMLIAGLIYKYIEYRGAEKEWGDGIRGLSLSAARYALLRL
EEGPPHTKNWRPQLLVLVRVDQDQNVVHPQLLSLTSQLKAGKGLTIVGSVLEGTFLENHP
QAQRAEESIRRLMEAEKVKGFCQVVISSNLRDGVSHLIQSGGLGGLQHNTVLVGWPRNWR
QKEDHQTWRNFIELVRETTAGHLALLVTKNVSMFPGNPERFSEGSIDVWWIVHDGGMLML
LPFLLRHHKVWRKCKMRIFTVAQMDDNSIQMKKDLTTFLYHLRITAEVEVVEMHESDISA
YTYEKTLVMEQRSQILKQMHLTKNEREREIQSITDESRGSIRRKNPANTRLRLNVPEETA
GDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEGETDPEKVHLTWTKDKSVAEKNKG
PSPVSSEGIKDFFSMKPEWENLNQSNVRRMHTAVRLNEVIVKKSRDAKLVLLNMPGPPRN
RNGDENYMEFLEVLTEHLDRVMLVRGGGREVITIYS
Target 1 Number of Residues 1134
Target 1 Molecular Weight 123513
Target 1 Theoretical pI 6.22
Target 1 GO Classification
Function
ion transporter activity
cation transporter activity
anion:cation symporter activity
cation:chloride symporter activity
transporter activity
Process
anion transport
inorganic anion transport
chloride transport
cation transport
monovalent inorganic cation transport
sodium ion transport
physiological process
cellular physiological process
transport
ion transport
Component
intrinsic to membrane
integral to membrane
cell
membrane
Target 1 General Function Involved in transporter activity
Target 1 Specific Function Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons
Target 1 Pathways Not Available
Target 1 Reactions Not Available
Target 1 Pfam Domain Function
Target 1 Signals
  • None
Target 1 Transmembrane Regions
  • 111-131
  • 133-153
  • 172-192
  • 194-214
  • 232-252
  • 255-275
  • 396-416
  • 436-456
  • 474-494
  • 547-567
  • 608-628
  • 825-845
Target 1 Essentiality Non-Essential
Target 1 GenBank ID Protein 12003227 Link Image
Target 1 UniProtKB/Swiss-Prot ID Q9H2X9 Link Image
Target 1 UniProtKB/Swiss-Prot Entry Name S12A5_HUMAN Link Image
Target 1 PDB ID Not Available
Target 1 Cellular Location
  • Membrane
  • multi-pass membrane protein
Target 1 Gene Sequence >3351 bp 
ATGCCCAACAACCTGACGGACTGCGAGGACGGCGATGGGGGAGCCAACCCGGGTGATGGC
AACCCCAAGGAAAGCAGTCCCTTCATCAACAGCACCGACACAGAGAAGGGAAAGGAGTAT
GATGGCAAGAACATGGCCTTGTTTGAGGAGGAGATGGACACCAGCCCTATGGTGTCCTCC
TTGCTCAGTGGCCTGGCCAACTACACCAACCTGCCCCAGGGAAGTAGGGAGCATGAAGAG
GCAGAAAACAATGAGGGTGGAAAAAAGAAGCCGGTGCAGGCCCCACGCATGGGCACCTTC
ATGGGCGTGTACCTGCCGTGCCTGCAGAACATCTTTGGCGTCATCCTCTTCCTGCGGCTC
ACCTGGGTGGTGGGCATTGCAGGCATCATGGAGTCCTTCTGCATGGTGTTCATCTGCTGC
TCCTGTACGATGCTCACGGCCATCTCCATGAGTGCAATTGCAACGAATGGTGTTGTGCCT
GCTGGTGGCTCCTACTACATGATTTCCAGGTCTCTGGGCCCAGAGTTTGGGGGTGCCGTG
GGCCTCTGCTTCTACCTGGGCACTACCTTTGCAGGAGCCATGTACATCCTGGGCACCATC
GAAATCCTGCTGGCTTACCTCTTCCCAGCCATGGCCATCTTCAAGGCAGAAGATGCCAGT
GGGGAGGCAGCAGCCATGCTGAACAACATGCGTGTTTACGGCACCTGTGTGCTCACCTGC
ATGGCCACTGTGGTGTTTGTGGGTGTCAAGTATGTCAACAAGTTTGCCCTTGTCTTCCTG
GGTTGTGTCATCCTCTCCATCCTGGCCATCTATGCTGGGGTCATCAAGTCTGCCTTCGAC
CCACCCAACTTCCCGATCTGCCTCCTGGGTAACCGCACGCTGTCTCGCCATGGCTTTGAT
GTCTGTGCCAAGCTGGCTTGGGAAGGAAATGAGACGGTGACCACACGGCTATGGGGCCTT
TTCTGCTCCTCTCGCTTCCTCAACGCCACCTGTGATGAATACTTCACCCGAAACAATGTC
ACAGAGATCCAGGGCATCCCTGGTGCTGCCAGTGGCCTCATCAAAGAGAACCTCTGGAGC
TCCTACCTGACCAAGGGCGTGATTGTGGAGAGGAGTGGGATGACCTCGGTGGGCCTGGCC
GATGGCACTCCTATCGACATGGACCACCCTTATGTCTTCAGTGATATGACCTCCTACTTC
ACCCTGCTGGTTGGCATCTACTTCCCCTCAGTCACAGGGATCATGGCTGGTTCTAACCGC
TCTGGGGACCTGAGGGATGCCCAGAAGTCAATCCCCACTGGCACCATCCTGGCCATCGCC
ACCACCTCTGCTGTCTACATCAGCTCCGTTGTTCTGTTTGGGGCCTGCATTGAGGGGGTC
GTCCTGCGGGACAAGTTTGGCGAAGCTGTGAATGGCAACCTCGTGGTGGGCACTCTGGCC
TGGCCATCTCCATGGGTAATTGTCATCGGATCCTTCTTCTCCACCTGTGGGGCTGGGCTG
CAGAGCCTCACGGGGGCCCCACGCCTGCTGCAGGCCATCTCGAGGGATGGCATTGTGCCC
TTCCTGCAGGTCTTTGGCCATGGCAAGGCCAATGGAGAGCCGACCTGGGCCCTGCTCCTG
ACTGCCTGCATCTGCGAGATTGGCATCCTCATTGCATCCCTCGACGAGGTGGCCCCCATC
CTCTCTATGTTCTTCCTGATGTGCTACATGTTTGTGAATCTGGCCTGTGCAGTGCAGACG
CTGCTGAGGACACCCAACTGGAGGCCACGCTTTCGATATTACCACTGGACCCTCTCCTTC
CTGGGCATGAGCCTCTGCCTGGCCCTCATGTTCATCTGCTCCTGGTATTATGCACTGGTA
GCCATGCTCATTGCTGGACTCATCTACAAGTACATTGAGTACCGTGGGGCAGAGAAGGAG
TGGGGCGATGGGATACGAGGTCTGTCTCTCAGTGCGGCTCGCTATGCCCTCTTACGCCTG
GAGGAAGGGCCCCCACACACCAAGAACTGGAGGCCACAGCTGCTGGTGCTGGTGCGTGTG
GACCAAGACCAGAATGTGGTGCACCCCCAGCTGCTCTCACTGACCTCCCAGCTGAAGGCA
GGGAAGGGCCTGACCATCGTGGGCTCTGTCCTTGAGGGCACCTTTCTGGAAAATCATCCA
CAGGCCCAGCGGGCAGAAGAGTCTATCAGGCGCCTGATGGAGGCAGAGAAGGTGAAGGGC
TTCTGCCAGGTGGTGATCTCCTCCAACTTGCGTGATGGCGTGTCCCATCTGATCCAGTCC
GGGGGCCTCGGGGGGCTGCAGCACAACACTGTGCTTGTTGGCTGGCCCCGCAACTGGCGC
CAGAAGGAAGATCATCAGACGTGGAGGAACTTCATTGAGCTGGTCCGGGAAACCACAGCT
GGCCACTTAGCCCTGCTGGTCACCAAGAACGTTTCCATGTTTCCTGGGAACCCTGAGCGC
TTCTCTGAGGGCAGCATCGACGTTTGGTGGATTGTGCACGATGGAGGCATGCTCATGCTG
CTGCCCTTCCTGCTGCGGCACCACAAGGTCTGGCGGAAGTGCAAGATGCGTATCTTCACT
GTGGCCCAGATGGATGACAATAGCATCCAGATGAAGAAGGATCTGACCACATTTCTGTAT
CATTTACGCATCACTGCGGAGGTCGAGGTGGTGGAGATGCATGAGAGCGACATCTCAGCT
TACACCTATGAGAAGACGTTGGTGATGGAGCAGCGTTCCCAGATCCTCAAACAGATGCAT
TTAACCAAGAATGAGCGGGAGCGGGAGATCCAGAGTATCACAGATGAGTCACGAGGCTCA
ATCCGGAGAAAGAATCCAGCCAACACGCGGCTCCGCCTGAACGTCCCAGAAGAGACGGCT
GGTGACAGTGAAGAGAAGCCAGAGGAGGAGGTGCAGCTGATCCACGATCAGAGTGCTCCC
AGCTGCCCCAGCAGCTCCCCGTCCCCAGGGGAGGAGCCTGAGGGGGAAGGGGAGACAGAT
CCGGAGAAGGTGCATCTCACCTGGACCAAGGACAAGTCGGTGGCAGAGAAGAATAAGGGC
CCCAGTCCTGTCTCCTCTGAGGGCATCAAGGACTTCTTCAGCATGAAGCCGGAGTGGGAG
AACTTGAACCAGTCCAACGTGCGGCGCATGCACACGGCCGTGCGGCTGAACGAGGTCATC
GTGAAGAAATCCCGGGACGCCAAGCTTGTTTTGCTCAACATGCCTGGGCCTCCCCGCAAC
CGCAATGGTGATGAAAACTACATGGAGTTTCTCGAGGTCCTCACAGAGCACCTGGACCGG
GTGATGCTGGTCCGCGGTGGTGGCCGAGAGGTCATCACCATCTACTCCTGA
Target 1 GenBank Gene ID
Target 1 GeneCard ID SLC12A5 Link Image
Target 1 GenAtlas ID SLC12A5 Link Image
Target 1 HGNC ID HGNC:13818 Link Image
Target 1 Chromosome Location 20
Target 1 Locus 20q13.12
Target 1 SNPs SNPJam Report Link Image
Target 1 General References
  1. Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O: Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. DNA Res. 1999 Oct 29;6(5):329-36. [PubMed Link Image]
  2. Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. [PubMed Link Image]
  3. Song L, Mercado A, Vazquez N, Xie Q, Desai R, George AL Jr, Gamba G, Mount DB: Molecular, functional, and genomic characterization of human KCC2, the neuronal K-Cl cotransporter. Brain Res Mol Brain Res. 2002 Jun 30;103(1-2):91-105. [PubMed Link Image]
Target 1 Drug References
  1. Reid KH, Guo SZ, Iyer VG: Agents which block potassium-chloride cotransport prevent sound-triggered seizures in post-ischemic audiogenic seizure-prone rats. Brain Res. 2000 May 2;864(1):134-7. [PubMed Link Image]
Drug Target 2 [top]
Target 2 ID 310
Target 2 Name Solute carrier family 12 member 2
Target 2 Synonyms
  1. Basolateral Na-K-Cl symporter
  2. Bumetanide-sensitive sodium- (potassium)-chloride cotransporter 1
Target 2 Gene Name SLC12A2
Target 2 Protein Sequence >Solute carrier family 12 member 2 
MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEG
PAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADG
EASGESEPAKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLS
EGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEKLLR
PSLAELHDELEKEPFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIW
GVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSAIATNGFVRGGGAYYLISRSL
GPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLKEHSILMIDEINDIRIIGAITVVIL
LGISVAGMEWEAKAQIVLLVILLLAIGDFVIGTFIPLESKKPKGFFGYKSEIFNENFGPD
FREEETFFSVFAIFFPAATGILAGANISGDLADPQSAIPKGTLLAILITTLVYVGIAVSV
GSCVVRDATGNVNDTIVTELTNCTSAACKLNFDFSSCESSPCSYGLMNNFQVMSMVSGFT
PLISAGIFSATLSSALASLVSAPKIFQALCKDNIYPAFQMFAKGYGKNNEPLRGYILTFL
IALGFILIAELNVIAPIISNFFLASYALINFSVFHASLAKSPGWRPAFKYYNMWISLLGA
ILCCIVMFVINWWAALLTYVIVLGLYIYVTYKKPDVNWGSSTQALTYLNALQHSIRLSGV
EDHVKNFRPQCLVMTGAPNSRPALLHLVHDFTKNVGLMICGHVHMGPRRQAMKEMSIDQA
KYQRWLIKNKMKAFYAPVHADDLREGAQYLMQAAGLGRMKPNTLVLGFKKDWLQADMRDV
DMYINLFHDAFDIQYGVVVIRLKEGLDISHLQGQEELLSSQEKSPGTKDVVVSVEYSKKS
DLDTSKPLSEKPITHKVEEEDGKTATQPLLKKESKGPIVPLNVADQKLLEASTQFQKKQG
KNTIDVWWLFDDGGLTLLIPYLLTTKKKWKDCKIRVFIGGKINRIDHDRRAMATLLSKFR
IDFSDIMVLGDINTKPKKENIIAFEEIIEPYRLHEDDKEQDIADKMKEDEPWRITDNELE
LYKTKTYRQIRLNELLKEHSSTANIIVMSLPVARKGAVSSALYMAWLEALSKDLPPILLV
RGNHQSVLTFYS
Target 2 Number of Residues 1232
Target 2 Molecular Weight 131448
Target 2 Theoretical pI 6.36
Target 2 GO Classification
Function
ion transporter activity
cation transporter activity
anion:cation symporter activity
cation:chloride symporter activity
transporter activity
Process
anion transport
inorganic anion transport
chloride transport
cation transport
monovalent inorganic cation transport
sodium ion transport
physiological process
cellular physiological process
transport
ion transport
Component
intrinsic to membrane
integral to membrane
cell
membrane
Target 2 General Function Involved in sodium/potassium transporter activity
Target 2 Specific Function Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume
Target 2 Pathways Not Available
Target 2 Reactions Not Available
Target 2 Pfam Domain Function
Target 2 Signals
  • None
Target 2 Transmembrane Regions
  • 93-113
  • 286-306
  • 310-330
  • 367-387
  • 411-431
  • 436-456
  • 487-507
  • 521-541
  • 592-612
  • 658-678
  • 679-699
  • 725-745
Target 2 Essentiality Non-Essential
Target 2 GenBank ID Protein 903682 Link Image
Target 2 UniProtKB/Swiss-Prot ID P55011 Link Image
Target 2 UniProtKB/Swiss-Prot Entry Name S12A2_HUMAN Link Image
Target 2 PDB ID Not Available
Target 2 Cellular Location
  • Membrane
  • multi-pass membrane protein
Target 2 Gene Sequence >3639 bp 
ATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAG
ACGCCGTCAGCCGCTGCGCTGGCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCC
TCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCGGGGTCCGCGATGAGGGC
CCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGT
TTCCAGGTGGACCTGGTTTCCGAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCG
GCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGCAGACCCCCGCGGACGGG
GAAGCCAGCGGCGAGAGCGAGCCAGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGC
GTGAACTTCGTGGACCCAGCTGCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCC
GGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCGGGGACACGGTGCTGAGC
GAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTAT
TATGATACCCACACCAACACCTACTACCTGCGCACCTTCGGCCACAACACCATGGACGCT
GTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGGGCGAGAAGCTGCTCCGG
CCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGAACCTTTTGAGGATGGCTTTGCA
AATGGGGAAGAAAGTACTCCAACCAGAGATGCTGTGGTCACGTATACTGCAGAAAGTAAA
GGAGTCGTGAAGTTTGGCTGGATCAAGGGTGTATTAGTACGTTGTATGTTAAACATTTGG
GGTGTGATGCTTTTCATTAGATTGTCATGGATTGTGGGTCAAGCTGGAATAGGTCTATCA
GTCCTTGTAATAATGATGGCCACTGTTGTGACAACTATCACAGGATTGTCTACTTCAGCA
ATAGCAACTAATGGATTTGTAAGAGGAGGAGGAGCATATTATTTAATATCTAGAAGTCTA
GGGCCAGAATTTGGTGGTGCAATTGGTCTAATCTTCGCCTTTGCCAACGCTGTTGCAGTT
GCTATGTATGTGGTTGGATTTGCAGAAACCGTGGTGGAGTTGCTTAAGGAACATTCCATA
CTTATGATAGATGAAATCAATGATATCCGAATTATTGGAGCCATTACAGTCGTGATTCTT
TTAGGTATCTCAGTAGCTGGAATGGAGTGGGAAGCAAAAGCTCAGATTGTTCTTTTGGTG
ATCCTACTTCTTGCTATTGGTGATTTCGTCATAGGAACATTTATCCCACTGGAGAGCAAG
AAGCCAAAAGGGTTTTTTGGTTATAAATCTGAAATATTTAATGAGAACTTTGGGCCCGAT
TTTCGAGAGGAAGAGACTTTCTTTTCTGTATTTGCCATCTTTTTTCCTGCTGCAACTGGT
ATTCTGGCTGGAGCAAATATCTCAGGTGATCTTGCAGATCCTCAGTCAGCCATACCCAAA
GGAACACTCCTAGCCATTTTAATTACTACATTGGTTTACGTAGGAATTGCAGTATCTGTA
GGTTCTTGTGTTGTTCGAGATGCCACTGGAAACGTTAATGACACTATCGTAACAGAGCTA
ACAAACTGTACTTCTGCAGCCTGCAAATTAAACTTTGATTTTTCATCTTGTGAAAGCAGT
CCTTGTTCCTATGGCCTAATGAACAACTTCCAGGTAATGAGTATGGTGTCAGGATTTACA
CCACTAATTTCTGCAGGTATATTTTCAGCCACTCTTTCTTCAGCATTAGCATCCCTAGTG
AGTGCTCCCAAAATATTTCAGGCTCTATGTAAGGACAACATCTACCCAGCTTTCCAGATG
TTTGCTAAAGGTTATGGGAAAAATAATGAACCTCTTCGTGGCTACATCTTAACATTCTTA
ATTGCACTTGGATTCATCTTAATTGCTGAACTGAATGTTATTGCACCAATTATCTCAAAC
TTCTTCCTTGCATCATATGCATTGATCAATTTTTCAGTATTCCATGCATCACTTGCAAAA
TCTCCAGGATGGCGTCCTGCATTCAAATACTACAACATGTGGATATCACTTCTTGGAGCA
ATTCTTTGTTGCATAGTAATGTTCGTCATTAACTGGTGGGCTGCATTGCTAACATATGTG
ATAGTCCTTGGGCTGTATATTTATGTTACCTACAAAAAACCAGATGTGAATTGGGGATCC
TCTACACAAGCCCTGACTTACCTGAATGCACTGCAGCATTCAATTCGTCTTTCTGGAGTG
GAAGACCACGTGAAAAACTTTAGGCCACAGTGTCTTGTTATGACAGGTGCTCCAAACTCA
CGTCCAGCTTTACTTCATCTTGTTCATGATTTCACAAAAAATGTTGGTTTGATGATCTGT
GGCCATGTACATATGGGTCCTCGAAGACAAGCCATGAAAGAGATGTCCATCGATCAAGCC
AAATATCAGCGATGGCTTATTAAGAACAAAATGAAGGCATTTTATGCTCCAGTACATGCA
GATGACTTGAGAGAAGGTGCACAGTATTTGATGCAGGCTGCTGGTCTTGGTCGTATGAAG
CCAAACACACTTGTCCTTGGATTTAAGAAAGATTGGTTGCAAGCAGATATGAGGGATGTG
GATATGTATATAAACTTATTTCATGATGCTTTTGACATACAATATGGAGTAGTGGTTATT
CGCCTAAAAGAAGGTCTGGATATATCTCATCTTCAAGGACAAGAAGAATTATTGTCATCA
CAAGAGAAATCTCCTGGCACCAAGGATGTGGTAGTAAGTGTGGAATATAGTAAAAAGTCC
GATTTAGATACTTCCAAACCACTCAGTGAAAAACCAATTACACACAAAGTTGAGGAAGAG
GATGGCAAGACTGCAACTCAACCACTGTTGAAAAAAGAATCCAAAGGCCCTATTGTGCCT
TTAAATGTAGCTGACCAAAAGCTTCTTGAAGCTAGTACACAGTTTCAGAAAAAACAAGGA
AAGAATACTATTGATGTCTGGTGGCTTTTTGATGATGGAGGTTTGACCTTATTGATACCT
TACCTTCTGACGACCAAGAAAAAATGGAAAGACTGTAAGATCAGAGTATTCATTGGTGGA
AAGATAAACAGAATAGACCATGACCGGAGAGCGATGGCTACTTTGCTTAGCAAGTTCCGG
ATAGACTTTTCTGATATCATGGTTCTAGGAGATATCAATACCAAACCAAAGAAAGAAAAT
ATTATAGCTTTTGAGGAAATCATTGAGCCATACAGACTTCATGAAGATGATAAAGAGCAA
GATATTGCAGATAAAATGAAAGAAGATGAACCATGGCGAATAACAGATAATGAGCTTGAA
CTTTATAAGACCAAGACATACCGGCAGATCAGGTTAAATGAGTTATTAAAGGAACATTCA
AGCACAGCTAATATTATTGTCATGAGTCTCCCAGTTGCACGAAAAGGTGCTGTGTCTAGT
GCTCTCTACATGGCATGGTTAGAAGCTCTATCTAAGGACCTACCACCAATCCTCCTAGTT
CGTGGGAATCATCAGAGTGTCCTTACCTTCTATTCATAA
Target 2 GenBank Gene ID
Target 2 GeneCard ID SLC12A2 Link Image
Target 2 GenAtlas ID SLC12A2 Link Image
Target 2 HGNC ID HGNC:10911 Link Image
Target 2 Chromosome Location 5
Target 2 Locus 5q23.3
Target 2 SNPs SNPJam Report Link Image
Target 2 General References
  1. Vibat CR, Holland MJ, Kang JJ, Putney LK, O'Donnell ME: Quantitation of Na+-K+-2Cl- cotransport splice variants in human tissues using kinetic polymerase chain reaction. Anal Biochem. 2001 Nov 15;298(2):218-30. [PubMed Link Image]
  2. Payne JA, Xu JC, Haas M, Lytle CY, Ward D, Forbush B 3rd: Primary structure, functional expression, and chromosomal localization of the bumetanide-sensitive Na-K-Cl cotransporter in human colon. J Biol Chem. 1995 Jul 28;270(30):17977-85. [PubMed Link Image]
Target 2 Drug References
  1. Panet R, Marcus M, Atlan H: Overexpression of the Na(+)/K(+)/Cl(-) cotransporter gene induces cell proliferation and phenotypic transformation in mouse fibroblasts. J Cell Physiol. 2000 Jan;182(1):109-18. [PubMed Link Image]
  2. Evans RL, Park K, Turner RJ, Watson GE, Nguyen HV, Dennett MR, Hand AR, Flagella M, Shull GE, Melvin JE: Severe impairment of salivation in Na+/K+/2Cl- cotransporter (NKCC1)-deficient mice. J Biol Chem. 2000 Sep 1;275(35):26720-6. [PubMed Link Image]
  3. Wall SM, Fischer MP, Mehta P, Hassell KA, Park SJ: Contribution of the Na+-K+-2Cl- cotransporter NKCC1 to Cl- secretion in rat OMCD. Am J Physiol Renal Physiol. 2001 May;280(5):F913-21. [PubMed Link Image]
  4. Akar F, Jiang G, Paul RJ, O'Neill WC: Contractile regulation of the Na(+)-K(+)-2Cl(-) cotransporter in vascular smooth muscle. Am J Physiol Cell Physiol. 2001 Aug;281(2):C579-84. [PubMed Link Image]
  5. Jiang G, Klein JD, O'Neill WC: Growth factors stimulate the Na-K-2Cl cotransporter NKCC1 through a novel Cl(-)-dependent mechanism. Am J Physiol Cell Physiol. 2001 Dec;281(6):C1948-53. [PubMed Link Image]
Drug Target 3 [top]
Target 3 ID 558
Target 3 Name Solute carrier family 12 member 1
Target 3 Synonyms
  1. Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
  2. Kidney-specific Na-K-Cl symporter
Target 3 Gene Name SLC12A1
Target 3 Protein Sequence >Solute carrier family 12 member 1 
MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRI
SFRPGNQECYDNFLHSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGS
ISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWV
KGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVIIIGLSTIVTTITGMSTSAIATNGVVR
GGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTND
IRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFN
YQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF
ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLM
NNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGK
NNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPA
YGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSY
VSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDITHAFTKNSGLCICCEVFVGP
RKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLGRMKPNTLVIG
YKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLA
LEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEAST
QFKKKQEKGTIDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIAMA
SLLSKFRIKFADIHIIGDINIRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWK
ITDAELEAVKEKSYRQVRLNELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKN
LPPVLLVRGNHKNVLTFYS
Target 3 Number of Residues 1117
Target 3 Molecular Weight 121342
Target 3 Theoretical pI 7.42
Target 3 GO Classification
Function
ion transporter activity
cation transporter activity
anion:cation symporter activity
cation:chloride symporter activity
transporter activity
Process
anion transport
inorganic anion transport
chloride transport
cation transport
monovalent inorganic cation transport
sodium ion transport
physiological process
cellular physiological process
transport
ion transport
Component
intrinsic to membrane
integral to membrane
cell
membrane
Target 3 General Function Involved in sodium/potassium transporter activity
Target 3 Specific Function Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume
Target 3 Pathways Not Available
Target 3 Reactions Not Available
Target 3 Pfam Domain Function
Target 3 Signals
  • None
Target 3 Transmembrane Regions
  • 178-198
  • 202-222
  • 260-280
  • 303-323
  • 328-348
  • 380-400
  • 418-438
  • 485-505
  • 551-571
  • 572-592
  • 610-630
  • 793-813
Target 3 Essentiality Non-Essential
Target 3 GenBank ID Protein 1373425 Link Image
Target 3 UniProtKB/Swiss-Prot ID Q13621 Link Image
Target 3 UniProtKB/Swiss-Prot Entry Name S12A1_HUMAN Link Image
Target 3 PDB ID Not Available
Target 3 Cellular Location
  • Membrane
  • multi-pass membrane protein
Target 3 Gene Sequence >3300 bp 
ATGTCACTGAACAACTCTTCCAATGTATTTCTGGATTCAGTGCCCAGTAATACCAATCGC
TTTCAAGTTAGTGTCATAAATGAGAACCATGAGAGCAGTGCAGCTGCAGATGACAATACT
GACCCACCACATTATGAAGAAACCTCTTTTGGGGATGAAGCTCAGAAAAGACTCAGAATC
AGCTTTAGGCCTGGGAATCAGGAGTGCTATGACAATTTCCTCCACAGTGGAGAAACTGCT
AAAACAGATGCCAGTTTTCACGCTTATGATTCTCACACAAACACATACTATCTACAAACT
TTTGGCCACAACACCATGGATGCCGTTCCCAAGATAGAGTACTATCGTAACACCGGCAGC
ATCAGTGGGCCCAAGGTCAACCGACCCAGCCTGCTTGAGATTCACGAGCAACTCGCAAAG
AATGTGGCAGTCACCCCAAGTTCAGCTGACAGAGTTGCTAACGGTGATGGGATACCTGGA
GATGAACAAGCTGAAAATAAGGAAGATGATCAAGCTGGTGTTGTGAAGTTTGGATGGGTG
AAAGGTGTGCTGGTAAGATGCATGCTGAACATCTGGGGAGTCATGCTCTTCATTCGCCTC
TCCTGGATTGTTGGAGAAGCTGGAATTGGTCTTGGAGTTATCATCATTGGCCTATCCACC
ATAGTAACGACAATCACAGGTATGTCCACGTCTGCTATTGCCACGAACGGAGTTGTTAGA
GGAGGTGGGGCCTACTATCTTATTTCCAGAAGTTTAGGGCCCGAGTTCGGTGGGTCAATA
GGCCTGATCTTTGCTTTTGCTAATGCAGTGGCTGTTGCTATGTATGTGGTGGGATTCGCT
GAAACTGTAGTAGATCTACTTAAGGAGAGTGATTCGATGATGGTGGATCCAACCAATGAC
ATCCGGATTATAGGCTCCATCACAGTGGTGATTCTTCTAGGAATTTCAGTAGCTGGAATG
GAATGGGAGGCAAAGGCCCAAGTCATTCTTCTGGTCATTCTTCTAATTGCTATTGCAAAC
TTCTTCATTGGAACTGTCATTCCATCCAACAATGAGAAAAAGTCCAGAGGTTTCTTTAAT
TACCAAGCATCAATATTTGCAGAAAACTTTGGGCCACGCTTCACAAAGGGTGAAGGCTTC
TTCTCTGTCTTTGCCATTTTTTTCCCAGCAGCTACTGGGATTCTTGCTGGTGCCAATATC
TCAGGAGATTTGGAGGATCCCCAAGATGCCATCCCCAGAGGAACCATGCTGGCCATTTTC
ATCACCACTGTTGCCTACTTAGGGGTTGCAATTTGTGTAGGGGCCTGTGTGGTCCGAGAT
GCCACCGGGAACATGAATGACACCATCATTTCTGGGATGAACTGCAATGGTTCAGCAGCA
TGTGGGTTGGGCTATGACTTCTCAAGATGTCGACATGAACCATGTCAGTACGGGCTGATG
AACAATTTCCAGGTCATGAGCATGGTATCAGGGTTCGGCCCCCTCATCACTGCGGGAATC
TTTTCTGCAACACTCTCCTCCGCCCTGGCCTCCCTTGTCAGCGCACCCAAAGTGTTCCAG
GCTCTGTGCAAGGACAACATCTACAAAGCCCTGCAGTTTTTTGCAAAGGGATATGGGAAA
AACAATGAACCCCTGAGAGGATATATTCTCACTTTTCTTATAGCCATGGCATTTATTCTT
ATTGCGGAACTGAACACCATTGCTCCCATCATCTCCAACTTTTTCCTGGCCTCATATGCA
CTTATTAATTTCTCCTGCTTCCATGCCTCTTATGCCAAATCTCCAGGATGGAGACCTGCG
TATGGAATTTACAACATGTGGGTATCTCTTTTTGGAGCTGTTTTGTGCTGTGCAGTCATG
TTTGTCATCAACTGGTGGGCAGCTGTCATCACCTATGTCATTGAATTCTTCCTTTACGTC
TATGTGACTTGTAAGAAGCCAGATGTGAACTGGGGCTCCTCCACACAGGCTCTTTCCTAC
GTGAGTGCTTTAGACAATGCTCTGGAATTAACCACAGTGGAAGACCACGTAAAAAACTTC
AGGCCCCAGTGCATTGTCTTAACAGGGGGACCCATGACAAGACCTGCTCTCCTGGACATA
ACTCACGCCTTTACCAAGAACAGTGGCCTTTGCATCTGCTGTGAAGTCTTTGTGGGACCG
CGCAAACTGTGTGTTAAGGAGATGAACAGTGGCATGGCGAAAAAACAGGCCTGGCTTATA
AAGAACAAAATCAAGGCTTTTTATGCTGCAGTGGCGGCAGACTGTTTCAGGGATGGTGTC
CGAAGTCTTCTTCAGGCCTCAGGCTTAGGAAGAATGAAACCAAACACTCTGGTGATTGGA
TATAAGAAAAACTGGAGGAAAGCTCCCTTGACAGAGATTGAGAACTACGTGGGAATCATA
CATGATGCATTTGATTTTGAGATTGGCGTGGTTATAGTCAGAATCAGCCAAGGATTTGAC
ATCTCTCAGGTTCTTCAGGTGCAAGAGGAATTAGAGAGATTAGAACAGGAGAGACTAGCA
TTGGAAGCGACTATCAAAGATAATGAGTGTGAAGAGGAAAGTGGAGGCATCCGAGGCTTG
TTTAAAAAAGCTGGCAAGTTGAACATTACTAAGACAACGCCTAAAAAAGATGGCAGCATT
AACACAAGCCAGTCGATGCATGTGGGAGAGTTCAACCAGAAACTGGTGGAAGCCAGCACT
CAATTTAAAAAGAAACAAGAAAAAGGCACAATTGATGTTTGGTGGTTGTTTGATGATGGA
GGGTTAACACTTCTTATCCCCTATATCTTAACTCTCAGAAAAAAATGGAAAGACTGTAAA
TTAAGAATCTATGTGGGAGGGAAGATCAACCGCATTGAAGAAGAAAAAATTGCAATGGCT
TCCCTTCTGAGCAAATTTAGGATAAAATTTGCAGACATCCATATCATCGGTGACATCAAC
ATTAGGCCAAACAAAGAGAGCTGGAAAGTCTTTGAAGAGATGATTGAACCATATCGTCTC
CATGAAAGCTGCAAAGATTTAACAACTGCTGAGAAATTAAAAAGAGAAACTCCGTGGAAA
ATTACAGATGCAGAACTGGAAGCAGTCAAGGAAAAGAGTTACCGCCAAGTTCGACTGAAT
GAACTCTTACAGGAGCACTCCAGAGCTGCTAATCTCATTGTCCTGAGCCTTCCCGTGGCA
AGAAAGGGATCCATATCGGATTTGTTGTATATGGCTTGGTTGGAAATCCTCACAAAGAAC
CTCCCACCTGTCTTACTAGTTAGAGGAAATCACAAAAATGTCTTGACATTTTACTCTTAA
Target 3 GenBank Gene ID
Target 3 GeneCard ID SLC12A1 Link Image
Target 3 GenAtlas ID SLC12A1 Link Image
Target 3 HGNC ID HGNC:10910 Link Image
Target 3 Chromosome Location 15
Target 3 Locus 15q15-q21.1
Target 3 SNPs SNPJam Report Link Image
Target 3 General References
  1. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996 Jun;13(2):183-8. [PubMed Link Image]
Target 3 Drug References
  1. Thakker RV: Chloride channels in renal disease. Adv Nephrol Necker Hosp. 1999;29:289-98. [PubMed Link Image]
  2. Chen X, Ji ZL, Chen YZ: TTD: Therapeutic Target Database. Nucleic Acids Res. 2002 Jan 1;30(1):412-5. [PubMed Link Image]
  3. Karolyi L, Koch MC, Grzeschik KH, Seyberth HW: The molecular genetic approach to "Bartter's syndrome". J Mol Med. 1998 Apr;76(5):317-25. [PubMed Link Image]
  4. Thakker RV: The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. Curr Opin Nephrol Hypertens. 1998 Jul;7(4):385-8. [PubMed Link Image]
Drug Target 4 [top]
Target 4 ID 663
Target 4 Name Solute carrier family 12 member 4
Target 4 Synonyms
  1. Electroneutral potassium-chloride cotransporter 1
  2. Erythroid K-Cl cotransporter 1
  3. hKCC1
Target 4 Gene Name SLC12A4
Target 4 Protein Sequence >Solute carrier family 12 member 4 
MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSDGHGNHRESSPFLSPLEASRGID
YYDRNLALFEEELDIRPKVSSLLGKLVSYTNLTQGAKEHEEAESGEGTRRRAAEAPSMGT
LMGVYLPCLQNIFGVILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVV
PAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEILLTYIAPPAAIFYPSGA
HDTSNATLNNMRVYGTIFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIKSIF
DPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLN
NVTEIPGIPGAAAGVLQENLWSAYLEKGDIVEKHGLPSADAPSLKESLPLYVVADIATSF
TVLVGIFFPSVTGIMAGSNRSGDLRDAQKSIPVGTILAIITTSLVYFSSVVLFGACIEGV
VLRDKYGDGVSRNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIP
FLRVFGHGKVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQT
LLRTPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYALVAMLIAGMIYKYIEYQGAEKE
WGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKA
GKGLTIVGSVIQGSFLESYGEAQAAEQTIKNMMEIEKVKGFCQVVVASKVREGLAHLIQS
CGLGGMRHNSVVLGWPYGWRQSEDPRAWKTFIDTVRCTTAAHLALLVPKNIAFYPSNHER
YLEGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQMDDNSIQMKKDLAVFLY
HLRLEAEVEVVEMHNSDISAYTYERTLMMEQRSQMLRQMRLTKTEREREAQLVKDRHSAL
RLESLYSDEEDESAVGADKIQMTWTRDKYMTETWDPSHAPDNFRELVHIKPDQSNVRRMH
TAVKLNEVIVTRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGLERVLLVRGGGREV
ITIYS
Target 4 Number of Residues 1103
Target 4 Molecular Weight 120651
Target 4 Theoretical pI 6.41
Target 4 GO Classification
Function
ion transporter activity
cation transporter activity
anion:cation symporter activity
cation:chloride symporter activity
transporter activity
Process
anion transport
inorganic anion transport
chloride transport
cation transport
monovalent inorganic cation transport
sodium ion transport
physiological process
cellular physiological process
transport
ion transport
Component
intrinsic to membrane
integral to membrane
cell
membrane
Target 4 General Function Involved in potassium/chloride transporter activity
Target 4 Specific Function Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia. Isoform 4 has no transport activity
Target 4 Pathways Not Available
Target 4 Reactions Not Available
Target 4 Pfam Domain Function
Target 4 Signals
  • None
Target 4 Transmembrane Regions
  • 119-139
  • 149-169
  • 215-235
  • 253-273
  • 276-296
  • 356-376
  • 408-428
  • 453-473
  • 494-514
  • 567-587
  • 628-648
  • 845-865
Target 4 Essentiality Non-Essential
Target 4 GenBank ID Protein 1399212 Link Image
Target 4 UniProtKB/Swiss-Prot ID Q9UP95 Link Image
Target 4 UniProtKB/Swiss-Prot Entry Name S12A4_HUMAN Link Image
Target 4 PDB ID Not Available
Target 4 Cellular Location
  • Membrane
  • multi-pass membrane protein
Target 4 Gene Sequence >3258 bp 
ATGCCTCACTTCACCGTGGTGCCAGTGGACGGGCCGAGGCGCGGCGACTATGACAACCTC
GAGGGGCTCAGTTGGGTGGACTACGGGGAGCGCGCCGAGCTGGATGACTCGGACGGACAT
GGCAACCACAGAGAGAGCAGCCCTTTTCTTTCCCCCTTGGAGGCTTCCAGAGGAATTGAC
TACTATGACAGGAACCTGGCACTGTTTGAGGAAGAGCTGGACATCCGCCCAAAGGTATCG
TCTCTTCTGGGAAAGCTCGTCAGCTACACCAACCTCACCCAGGGCGCCAAAGAGCATGAG
GAGGCCGAGAGTGGGGAGGGCACCCGCCGGAGGGCAGCCGAGGCACCCAGCATGGGCACC
CTCATGGGGGTGTACCTGCCCTGCCTGCAGAATATCTTTGGGGTTATCCTCTTCCTGCGG
CTGACCTGGATGGTGGGCACAGCAGGTGTGCTACAGGCCCTCCTCATCGTGCTTATCTGC
TGCTGTTGTACCCTGCTGACGGCCATCTCCATGAGTGCCATCGCCACCAACGGTGTGGTT
CCAGCTGGGGGCTCCTATTTCATGATCTCTCGTTCACTGGGGCCAGAATTTGGAGGTGCT
GTGGGCCTGTGCTTCTACCTGGGAACAACATTCGCAGCAGCCATGTACATCCTGGGGGCC
ATCGAGATCTTGCTGACCTACATTGCCCCACCAGCTGCCATTTTTTACCCATCGGGTGCT
CATGACACGTCGAATGCCACTTTGAACAATATGCGTGTGTATGGGACCATTTTCCTGACC
TTCATGACCCTGGTGGTGTTTGTGGGGGTCAAGTATGTGAACAAATTTGCCTCGCTCTTC
CTGGCCTGTGTGATCATCTCCATCCTCTCCATCTATGCTGGGGGCATAAAGTCTATATTT
GACCCTCCCGTGTTTCCGGTATGCATGCTGGGCAACAGGACCCTGTCCCGGGACCAGTTT
GACATCTGTGCCAAGACAGCTGTAGTGGACAATGAGACAGTGGCCACCCAGCTATGGAGT
TTCTTCTGCCACAGCCCCAACCTTACGACCGACTCCTGTGACCCCTACTTCATGCTCAAC
AATGTGACCGAGATCCCTGGCATCCCCGGGGCAGCTGCTGGTGTGCTCCAGGAAAACCTG
TGGAGCGCCTACCTGGAGAAGGGTGACATCGTGGAGAAGCATGGGCTGCCCTCCGCAGAT
GCCCCGAGCCTGAAGGAGAGCCTGCCTCTGTACGTGGTCGCTGACATCGCCACATCCTTC
ACCGTGCTGGTCGGCATCTTCTTCCCTTCTGTAACAGGCATCATGGCTGGCTCAAACCGC
TCTGGGGACCTTCGTGACGCCCAGAAGTCTATCCCTGTGGGGACCATTCTGGCCATCATT
ACAACTTCCCTCGTGTACTTCAGCAGTGTGGTTCTCTTTGGTGCCTGCATTGAGGGTGTG
GTTCTCCGGGACAAGTATGGCGATGGTGTCAGCAGGAACTTGGTGGTGGGCACACTGGCC
TGGCCTTCACCCTGGGTCATCGTCATCGGCTCCTTCTTTTCAACGTGTGGCGCTGGCCTC
CAGAGCCTCACAGGGGCACCACGCCTATTGCAGGCCATTGCCAAGGACAACATCATCCCC
TTCCTCCGGGTGTTTGGCCACGGGAAGGTGAATGGTGAACCCACATGGGCACTCCTCCTG
ACGGCACTCATCGCCGAGCTGGGCATCCTCATCGCCTCCCTCGACATGGTGGCCCCCATC
TTATCCATGTTCTTTCTGATGTGCTACCTGTTCGTGAACCTCGCCTGTGCGGTGCAGACA
CTCCTGAGGACCCCCAACTGGCGGCCCCGGTTCAAGTACTATCACTGGGCGCTGTCCTTC
CTGGGCATGAGTCTCTGCCTGGCCCTTATGTTTGTCTCCTCCTGGTACTATGCCCTGGTG
GCCATGCTCATCGCCGGCATGATCTACAAATACATCGAGTACCAAGGGGCTGAGAAGGAG
TGGGGTGACGGGATCCGAGGCCTGTCCCTGAGCGCTGCCCGCTACGCGCTGTTGCGGCTG
GAGGAGGGGCCTCCTCACACCAAGAACTGGCGGCCGCAGCTGCTGGTGCTGCTGAAGCTG
GACGAGGACCTCCACGTGAAGTACCCGCGGCTCCTCACCTTCGCCTCCCAGCTCAAGGCT
GGCAAGGGCCTGACCATTGTTGGTTCTGTCATCCAGGGGAGCTTCTTGGAGAGCTATGGC
GAGGCTCAGGCCGCCGAGCAGACCATCAAGAACATGATGGAAATTGAGAAGGTGAAGGGC
TTCTGCCAGGTGGTGGTGGCCAGCAAGGTGCGGGAGGGGCTGGCCCACCTCATCCAGTCC
TGTGGCCTGGGAGGCATGCGGCATAACTCCGTGGTGCTGGGCTGGCCCTACGGCTGGCGA
CAGAGCGAGGACCCCCGTGCCTGGAAGACCTTCATTGACACCGTGCGCTGCACTACGGCT
GCCCACCTGGCCCTGCTCGTGCCCAAGAACATCGCCTTCTACCCCAGCAACCACGAGCGC
TACCTGGAGGGCCACATAGACGTGTGGTGGATCGTGCACGATGGTGGCATGCTCATGCTT
CTGCCCTTCCTGCTGCGCCAGCATAAGGTCTGGAGGAAGTGCCGGATGCGCATCTTCACA
GTGGCCCAGATGGATGACAACAGCATCCAGATGAAGAAGGACCTGGCTGTCTTTCTGTAC
CATCTGCGCCTTGAGGCCGAGGTGGAGGTGGTGGAGATGCATAACAGTGACATCTCTGCA
TACACCTACGAGCGGACGCTGATGATGGAGCAGCGGTCGCAGATGCTGCGGCAGATGAGA
CTGACCAAGACTGAGCGGGAGCGAGAAGCCCAGCTGGTCAAGGATCGGCACTCGGCCCTG
CGGCTGGAGAGCCTGTACTCGGACGAGGAAGATGAGTCTGCAGTGGGGGCTGACAAGATC
CAGATGACGTGGACCAGGGACAAGTACATGACTGAGACCTGGGACCCCAGCCATGCCCCT
GACAATTTCCGGGAGCTGGTGCACATTAAGCCGGACCAATCCAATGTGCGGCGCATGCAC
ACTGCTGTGAAGCTCAATGAAGTCATTGTCACGCGCTCCCACGACGCCCGCCTGGTTCTC
CTAAACATGCCTGGCCCACCCAGGAACAGTGAGGGCGACGAGAACTACATGGAGTTCCTC
GAGGTGCTGACCGAGGGCCTTGAGCGGGTGCTGTTGGTGCGCGGTGGTGGCCGTGAAGTC
ATCACCATCTACTCCTGA
Target 4 GenBank Gene ID
Target 4 GeneCard ID SLC12A4 Link Image
Target 4 GenAtlas ID SLC12A4 Link Image
Target 4 HGNC ID HGNC:10913 Link Image
Target 4 Chromosome Location 16
Target 4 Locus 16q22.1
Target 4 SNPs SNPJam Report Link Image
Target 4 General References
  1. Su W, Shmukler BE, Chernova MN, Stuart-Tilley AK, de Franceschi L, Brugnara C, Alper SL: Mouse K-Cl cotransporter KCC1: cloning, mapping, pathological expression, and functional regulation. Am J Physiol. 1999 Nov;277(5 Pt 1):C899-912. [PubMed Link Image]
  2. Casula S, Shmukler BE, Wilhelm S, Stuart-Tilley AK, Su W, Chernova MN, Brugnara C, Alper SL: A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity. J Biol Chem. 2001 Nov 9;276(45):41870-8. Epub 2001 Sep 10. [PubMed Link Image]
  3. Gillen CM, Brill S, Payne JA, Forbush B 3rd: Molecular cloning and functional expression of the K-Cl cotransporter from rabbit, rat, and human. A new member of the cation-chloride cotransporter family. J Biol Chem. 1996 Jul 5;271(27):16237-44. [PubMed Link Image]
  4. Pellegrino CM, Rybicki AC, Musto S, Nagel RL, Schwartz RS: Molecular identification and expression of erythroid K:Cl cotransporter in human and mouse erythroleukemic cells. Blood Cells Mol Dis. 1998 Mar;24(1):31-40. [PubMed Link Image]
Target 4 Drug References
  1. Reid KH, Guo SZ, Iyer VG: Agents which block potassium-chloride cotransport prevent sound-triggered seizures in post-ischemic audiogenic seizure-prone rats. Brain Res. 2000 May 2;864(1):134-7. [PubMed Link Image]
  2. Jean-Xavier C, Pflieger JF, Liabeuf S, Vinay L: Inhibitory postsynaptic potentials in lumbar motoneurons remain depolarizing after neonatal spinal cord transection in the rat. J Neurophysiol. 2006 Nov;96(5):2274-81. Epub 2006 Jun 28. [PubMed Link Image]
Drug Target 5 [top]
Target 5 ID 2184
Target 5 Name Cystic fibrosis transmembrane conductance regulator
Target 5 Synonyms
  1. ATP-binding cassette transporter sub- family C member 7
  2. CFTR
  3. cAMP- dependent chloride channel
Target 5 Gene Name CFTR
Target 5 Protein Sequence >Cystic fibrosis transmembrane conductance regulator 
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRE
LASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIA
IYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQL
VSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA
YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQT
WYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRK
TSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV
LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR
ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNS
ILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQG
QNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESI
PAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN
NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATV
PVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHK
ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIM
STLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRL
LNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD
EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVT
YQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL
Target 5 Number of Residues 1504
Target 5 Molecular Weight 168144
Target 5 Theoretical pI 9.02
Target 5 GO Classification
Function
transporter activity
ion transporter activity
ion channel activity
anion channel activity
chloride channel activity
ATPase activity
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
ATPase activity, coupled to transmembrane movement of substances
purine nucleotide binding
adenyl nucleotide binding
ATP binding
catalytic activity
hydrolase activity
hydrolase activity, acting on acid anhydrides
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
pyrophosphatase activity
nucleoside-triphosphatase activity
binding
nucleotide binding
Process
ion transport
physiological process
cellular physiological process
transport
Component
cell
membrane
intrinsic to membrane
integral to membrane
Target 5 General Function Involved in chloride ion transport
Target 5 Specific Function Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter
Target 5 Pathways Not Available
Target 5 Reactions Not Available
Target 5 Pfam Domain Function
Target 5 Signals
  • None
Target 5 Transmembrane Regions
  • 81-103
  • 118-138
  • 195-215
  • 221-241
  • 308-328
  • 331-350
  • 860-880
  • 912-932
  • 991-1011
  • 1014-1034
  • 1103-1123
  • 1129-1149
Target 5 Essentiality Non-Essential
Target 5 GenBank ID Protein 180332 Link Image
Target 5 UniProtKB/Swiss-Prot ID P13569 Link Image
Target 5 UniProtKB/Swiss-Prot Entry Name CFTR_HUMAN Link Image
Target 5 PDB ID 1XMI Link Image
Target 5 PDB File Show
Target 5 3D Structure
Target 5 Cellular Location
  • Membrane
  • multi-pass membrane protein
Target 5 Gene Sequence >4443 bp 
ATGCAGAGGTCGCCTCTGGAAAAGGCCAGCGTTGTCTCCAAACTTTTTTTCAGCTGGACC
AGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATC
CCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAGAGAATGGGATAGAGAG
CTGGCTTCAAAGAAAAATCCTAAACTCATTAATGCCCTTCGGCGATGTTTTTTCTGGAGA
TTTATGTTCTATGGAATCTTTTTATATTTAGGGGAAGTCACCAAAGCAGTACAGCCTCTC
TTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCG
ATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCA
GCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATT
TATAAGAAGACTTTAAAGCTGTCAAGCCGTGTTCTAGATAAAATAAGTATTGGACAACTT
GTTAGTCTCCTTTCCAACAACCTGAACAAATTTGATGAAGGACTTGCATTGGCACATTTC
GTGTGGATCGCTCCTTTGCAAGTGGCACTCCTCATGGGGCTAATCTGGGAGTTGTTACAG
GCGTCTGCCTTCTGTGGACTTGGTTTCCTGATAGTCCTTGCCCTTTTTCAGGCTGGGCTA
GGGAGAATGATGATGAAGTACAGAGATCAGAGAGCTGGGAAGATCAGTGAAAGACTTGTG
ATTACCTCAGAAATGATTGAAAATATCCAATCTGTTAAGGCATACTGCTGGGAAGAAGCA
ATGGAAAAAATGATTGAAAACTTAAGACAAACAGAACTGAAACTGACTCGGAAGGCAGCC
TATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTA
TCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATC
TCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACA
TGGTATGACTCTCTTGGAGCAATAAACAAAATACAGGATTTCTTACAAAAGCAAGAATAT
AAGACATTGGAATATAACTTAACGACTACAGAAGTAGTGATGGAGAATGTAACAGCCTTC
TGGGAGGAGGGATTTGGGGAATTATTTGAGAAAGCAAAACAAAACAATAACAATAGAAAA
ACTTCTAATGGTGATGACAGCCTCTTCTTCAGTAATTTCTCACTTCTTGGTACTCCTGTC
CTGAAAGATATTAATTTCAAGATAGAAAGAGGACAGTTGTTGGCGGTTGCTGGATCCACT
GGAGCAGGCAAGACTTCACTTCTAATGATGATTATGGGAGAACTGGAGCCTTCAGAGGGT
AAAATTAAGCACAGTGGAAGAATTTCATTCTGTTCTCAGTTTTCCTGGATTATGCCTGGC
ACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAATATAGATACAGAAGCGTC
ATCAAAGCATGCCAACTAGAAGAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTT
CTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGA
GCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTT
TTAACAGAAAAAGAAATATTTGAAAGCTGTGTCTGTAAACTGATGGCTAACAAAACTAGG
ATTTTGGTCACTTCTAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGAAT
GAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAAATCTACAGCCAGACTTT
AGCTCAAAACTCATGGGATGTGATTCTTTCGACCAATTTAGTGCAGAAAGAAGAAATTCA
ATCCTAACTGAGACCTTACACCGTTTCTCATTAGAAGGAGATGCTCCTGTCTCCTGGACA
GAAACAAAAAAACAATCTTTTAAACAGACTGGAGAGTTTGGGGAAAAAAGGAAGAATTCT
ATTCTCAATCCAATCAACTCTATACGAAAATTTTCCATTGTGCAAAAGACTCCCTTACAA
ATGAATGGCATCGAAGAGGATTCTGATGAGCCTTTAGAGAGAAGGCTGTCCTTAGTACCA
GATTCTGAGCAGGGAGAGGCGATACTGCCTCGCATCAGCGTGATCAGCACTGGCCCCACG
CTTCAGGCACGAAGGAGGCAGTCTGTCCTGAACCTGATGACACACTCAGTTAACCAAGGT
CAGAACATTCACCGAAAGACAACAGCATCCACACGAAAAGTGTCACTGGCCCCTCAGGCA
AACTTGACTGAACTGGATATATATTCAAGAAGGTTATCTCAAGAAACTGGCTTGGAAATA
AGTGAAGAAATTAACGAAGAAGACTTAAAGGAGTGCCTTTTTGATGATATGGAGAGCATA
CCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATT
TTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAGAGGTGGCTGCTTCTTTGGTTGTG
CTGTGGCTCCTTGGAAACACTCCTCTTCAAGACAAAGGGAATAGTACTCATAGTAGAAAT
AACAGCTATGCAGTGATTATCACCAGCACCAGTTCGTATTATGTGTTTTACATTTACGTG
GGAGTAGCCGACACTTTGCTTGCTATGGGATTCTTCAGAGGTCTACCACTGGTGCATACT
CTAATCACAGTGTCGAAAATTTTACACCACAAAATGTTACATTCTGTTCTTCAAGCACCT
ATGTCAACCCTCAACACGTTGAAAGCAGGTGGGATTCTTAATAGATTCTCCAAAGATATA
GCAATTTTGGATGACCTTCTGCCTCTTACCATATTTGACTTCATCCAGTTGTTATTAATT
GTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTG
CCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTC
AAACAACTGGAATCTGAAGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAA
GGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAA
GCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAA
ATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTA
ACAACAGGAGAAGGAGAAGGAAGAGTTGGTATTATCCTGACTTTAGCCATGAATATCATG
AGTACATTGCAGTGGGCTGTAAACTCCAGCATAGATGTGGATAGCTTGATGCGATCTGTG
AGCCGAGTCTTTAAGTTCATTGACATGCCAACAGAAGGTAAACCTACCAAGTCAACCAAA
CCATACAAGAATGGCCAACTCTCGAAAGTTATGATTATTGAGAATTCACACGTGAAGAAA
GATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGATCTCACAGCAAAATACACA
GAAGGTGGAAATGCCATATTAGAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAGGGTG
GGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTA
CTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAA
CAGTGGAGGAAAGCCTTTGGAGTGATACCACAGAAAGTATTTATTTTTTCTGGAACATTT
AGAAAAAACTTGGATCCCTATGAACAGTGGAGTGATCAAGAAATATGGAAAGTTGCAGAT
GAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTG
GATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTT
CTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTAACA
TACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGT
GAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTCATAGAAGAGAACAAA
GTGCGGCAGTACGATTCCATCCAGAAACTGCTGAACGAGAGGAGCCTCTTCCGGCAAGCC
ATCAGCCCCTCCGACAGGGTGAAGCTCTTTCCCCACCGGAACTCAAGCAAGTGCAAGTCT
AAGCCCCAGATTGCTGCTCTGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTT
TAG
Target 5 GenBank Gene ID
Target 5 GeneCard ID CFTR Link Image
Target 5 GenAtlas ID CFTR Link Image
Target 5 HGNC ID HGNC:1884 Link Image
Target 5 Chromosome Location 7
Target 5 Locus 7q31.2
Target 5 SNPs SNPJam Report Link Image
Target 5 General References
  1. Picci L, Cameran M, Olante P, Zacchello F, Scarpa M: Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement. Mutations in brief no. 221. Online. Hum Mutat. 1999;13(2):173. [PubMed Link Image]
  2. Karthikeyan S, Leung T, Ladias JA: Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 2001 Jun 8;276(23):19683-6. Epub 2001 Apr 13. [PubMed Link Image]
  3. Cheng J, Moyer BD, Milewski M, Loffing J, Ikeda M, Mickle JE, Cutting GR, Li M, Stanton BA, Guggino WB: A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. J Biol Chem. 2002 Feb 1;277(5):3520-9. Epub 2001 Nov 13. [PubMed Link Image]
  4. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC: Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. [PubMed Link Image]
  5. Jones CT, McIntosh I, Keston M, Ferguson A, Brock DJ: Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation. Hum Mol Genet. 1992 Apr;1(1):11-7. [PubMed Link Image]
  6. Cheadle JP, Meredith AL, al-Jader LN: A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet. 1992 May;1(2):123-5. [PubMed Link Image]
  7. Shackleton S, Beards F, Harris A: Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. Hum Mol Genet. 1992 Sep;1(6):439-40. [PubMed Link Image]
  8. Lissens W, Bonduelle M, Malfroot A, Dab I, Liebaers I: A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene. Hum Mol Genet. 1992 Sep;1(6):441-2. [PubMed Link Image]
  9. Tsui LC: Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat. 1992;1(3):197-203. [PubMed Link Image]
  10. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed Link Image]
  11. 1377674 Picciotto MR, Cohn JA, Bertuzzi G, Greengard P, Nairn AC: Phosphorylation of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 1992 Jun 25;267(18):12742-52.
  12. 1378801 McIntosh I, Cutting GR: Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis. FASEB J. 1992 Jul;6(10):2775-82.
  13. 1695717 Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr: A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature. 1990 Jul 26;346(6282):366-9.
  14. 1710598 Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991 May;10(1):214-28.
  15. 1710600 White MB, Krueger LJ, Holsclaw DS Jr, Gerrard BC, Stewart C, Quittell L, Dolganov G, Baranov V, Ivaschenko T, Kapronov NI, et al.: Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT). Genomics. 1991 May;10(1):266-9.
  16. 2236053 Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al.: Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51.
  17. 2475911 Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al.: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066-73.
  18. 7504969 Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti PF, Cabrini G: Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes. Hum Mutat. 1993;2(5):389-94.
  19. 7505694 Chillon M, Casals T, Nunes V, Gimenez J, Perez Ruiz E, Estivill X: Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype. Hum Mol Genet. 1993 Oct;2(10):1741-2.
  20. 7513296 Boteva K, Papageorgiou E, Georgiou C, Angastiniotis M, Middleton LT, Constantinou-Deltas CD: Novel cystic fibrosis mutation associated with mild disease in Cypriot patients. Hum Genet. 1994 May;93(5):529-32.
  21. 7517264 Chillon M, Casals T, Gimenez J, Nunes V, Estivill X: Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4). Hum Mutat. 1994;3(3):223-30.
  22. 7520022 Greil I, Wagner K, Rosenkranz W: A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Hered. 1994 Jul-Aug;44(4):238-40.
  23. 7522211 Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M: Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1994 May 15;21(2):434-6.
  24. 7524909 Schaedel C, Kristoffersson AC, Kornfalt R, Holmberg L: A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. Hum Mol Genet. 1994 Jun;3(6):1001-2.
  25. 7524913 Petreska L, Koceva S, Gordova-Muratovska A, Nestorov R, Efremov GD: Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin. Hum Mol Genet. 1994 Jun;3(6):999-1000.
  26. 7525450 Dork T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kalin N, Wulbrand U, et al.: Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet. 1994 Nov;94(5):533-42.
  27. 7529962 Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrezet MP, Ferec C: Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet. 1995 Jan;56(1):272-7.
  28. 7537150 Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC: Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Mutat. 1995;5(1):43-7.
  29. 7539342 Jezequel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall JY, Le Lannou D, Blayau M: Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. Clin Chem. 1995 Jun;41(6 Pt 1):833-5.
  30. 7541273 Verlingue C, Kapranov NI, Mercier B, Ginter EK, Petrova NV, Audrezet MP, Ferec C: Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles. Hum Mutat. 1995;5(3):205-9.
  31. 7541510 Ferec C, Novelli G, Verlingue C, Quere I, Dallapiccola B, Audrezet MP, Mercier B: Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. Mol Cell Probes. 1995 Apr;9(2):135-7.
  32. 7543567 Leoni GB, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L, Cao A, Rosatelli MC: A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. J Pediatr. 1995 Aug;127(2):281-3.
  33. 7544319 Brancolini V, Cremonesi L, Belloni E, Pappalardo E, Bordoni R, Seia M, Russo S, Padoan R, Giunta A, Ferrari M: Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations. Hum Genet. 1995 Sep;96(3):312-8.
  34. 7581407 Romey MC, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M: Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult. Hum Mutat. 1995;6(2):190-1.
  35. 7680525 Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K: Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Hum Genet. 1993 Mar;52(3):609-15.
  36. 7683628 Mercier B, Lissens W, Novelli G, Kalaydjieva L, De Arce M, Kapranov N, Klain NC, Lenoir G, Chauveau P, Lenaerts C, et al.: Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene. Genomics. 1993 Apr;16(1):296-7.
  37. 7683954 Nunes V, Chillon M, Dork T, Tummler B, Casals T, Estivill X: A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. Hum Mol Genet. 1993 Jan;2(1):79-80.
  38. 8081395 Bienvenu T, Petitpretz P, Beldjord C, Kaplan JC: A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mutat. 1994;3(4):395-6.
  39. 8522333 Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M: Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. Hum Genet. 1995 Dec;96(6):717-20.
  40. 8723693 Petreska L, Plaseska D, Koceva S, Stavljenic-Rukavina A, Efremov GD: A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. Hum Mutat. 1996;7(4):374-5.
  41. 8723695 Bienvenu T, Chertkoff L, Beldjord C, Segal E, Carniglia L, Barreiro C, Kaplan JC: Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients. Hum Mutat. 1996;7(4):376-7.
  42. 8800923 Messaoud T, Verlingue C, Denamur E, Pascaud O, Quere I, Fattoum S, Elion J, Ferec C: Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet. 1996;4(1):20-4.
  43. 8829633 Nasr SZ, Strong TV, Mansoura MK, Dawson DC, Collins FS: Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. Hum Mutat. 1996;7(2):151-4.
  44. 8956039 Hughes DJ, Hill AJ, Macek M Jr, Redmond AO, Nevin NC, Graham CA: Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. Hum Mutat. 1996;8(4):340-7.
  45. 9067761 Zielenski J, Patrizio P, Markiewicz D, Asch RH, Tsui LC: Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD). Hum Mutat. 1997;9(2):183-4.
  46. 9101301 Clavel C, Pennaforte F, Pigeon F, Verlingue C, Birembaut P, Ferec C: Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140. Hum Mutat. 1997;9(4):368-9.
  47. 9222768 Gouya L, Pascaud O, Munck A, Elion J, Denamur E: Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient. Hum Mutat. 1997;10(1):86-7.
  48. 9375855 Casals T, Pacheco P, Barreto C, Gimenez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vazquez C, Rocha H, Seculi JL, Perez E, Dapena J, Carrilho E, Duarte A, Palacio AM, Nunes V, Lavinha J, Estivill X: Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients. Hum Mutat. 1997;10(5):387-92.
  49. 9385646 Neville DC, Rozanas CR, Price EM, Gruis DB, Verkman AS, Townsend RR: Evidence for phosphorylation of serine 753 in CFTR using a novel metal-ion affinity resin and matrix-assisted laser desorption mass spectrometry. Protein Sci. 1997 Nov;6(11):2436-45.
  50. 9401006 Shrimpton AE, Borowitz D, Swender P: Cystic fibrosis mutation frequencies in upstate New York. Hum Mutat. 1997;10(6):436-42.
  51. 9443874 Friedman KJ, Leigh MW, Czarnecki P, Feldman GL: Cystic fibrosis transmembrane-conductance regulator mutations among African Americans. Am J Hum Genet. 1998 Jan;62(1):195-6.
  52. 9452048 Feldmann D, Sardet A, Cougoureux E, Plouvier E, Fontaine JL, Tournier G, Aymard P: Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients. Hum Mutat. 1998;Suppl 1:S78-80.
  53. 9452054 Casals T, Ramos MD, Gimenez J, Nadal M, Nunes V, Estivill X: Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. Hum Mutat. 1998;Suppl 1:S99-102.
  54. 9452073 Shackleton S, Harris A: A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. Hum Mutat. 1998;Suppl 1:S156-7.
  55. 9482579 Malone G, Haworth A, Schwarz MJ, Cuppens H, Super M: Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C). Hum Mutat. 1998;11(2):152-7.
  56. 9517543 Hoedemaeker FJ, Davidson AR, Rose DR: A model for the nucleotide-binding domains of ABC transporters based on the large domain of aspartate aminotransferase. Proteins. 1998 Feb 15;30(3):275-86.
  57. 9521595 Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui LC, Kirdar B: Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Hum Genet. 1998 Feb;102(2):224-30.
  58. 9554753 Leoni GB, Pitzalis S, Tonelli R, Cao A: Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. Hum Mutat. 1998;11(4):337.
  59. 9736778 Vankeerberghen A, Wei L, Jaspers M, Cassiman JJ, Nilius B, Cuppens H: Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. Hum Mol Genet. 1998 Oct;7(11):1761-9.
  60. 9921909 Bombieri C, Benetazzo M, Saccomani A, Belpinati F, Gile LS, Luisetti M, Pignatti PF: Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. Hum Genet. 1998 Dec;103(6):718-22.
Target 5 Drug References
  1. Reddy MM, Quinton PM: Bumetanide blocks CFTR GCl in the native sweat duct. Am J Physiol. 1999 Jan;276(1 Pt 1):C231-7. [PubMed Link Image]

This project is supported by Genome Alberta & Genome Canada, a not-for-profit organization that is leading Canada's national genomics strategy with $600 million in funding from the federal government. This project is also supported in part by GenomeQuest, Inc., an enterprise genomic information company serving the life science community.