Chloride channel protein 2

Details

Name
Chloride channel protein 2
Synonyms
  • ClC-2
Gene Name
CLCN2
Organism
Humans
Amino acid sequence
>lcl|BSEQ0037070|Chloride channel protein 2
MAAAAAEEGMEPRALQYEQTLMYGRYTQDLGAFAKEEAARIRLGGPEPWKGPPSSRAAPE
LLEYGRSRCARCRVCSVRCHKFLVSRVGEDWIFLVLLGLLMALVSWVMDYAIAACLQAQQ
WMSRGLNTSILLQYLAWVTYPVVLITFSAGFTQILAPQAVGSGIPEMKTILRGVVLKEYL
TLKTFIAKVIGLTCALGSGMPLGKEGPFVHIASMCAALLSKFLSLFGGIYENESRNTEML
AAACAVGVGCCFAAPIGGVLFSIEVTSTFFAVRNYWRGFFAATFSAFIFRVLAVWNRDEE
TITALFKTRFRLDFPFDLQELPAFAVIGIASGFGGALFVYLNRKIVQVMRKQKTINRFLM
RKRLLFPALVTLLISTLTFPPGFGQFMAGQLSQKETLVTLFDNRTWVRQGLVEELEPPST
SQAWNPPRANVFLTLVIFILMKFWMSALATTIPVPCGAFMPVFVIGAAFGRLVGESMAAW
FPDGIHTDSSTYRIVPGGYAVVGAAALAGAVTHTVSTAVIVFELTGQIAHILPVMIAVIL
ANAVAQSLQPSLYDSIIRIKKLPYLPELGWGRHQQYRVRVEDIMVRDVPHVALSCTFRDL
RLALHRTKGRMLALVESPESMILLGSIERSQVVALLGAQLSPARRRQHMQERRATQTSPL
SDQEGPPTPEASVCFQVNTEDSAFPAARGETHKPLKPALKRGPSVTRNLGESPTGSAESA
GIALRSLFCGSPPPEAASEKLESCEKRKLKRVRISLASDADLEGEMSPEEILEWEEQQLD
EPVNFSDCKIDPAPFQLVERTSLHKTHTIFSLLGVDHAYVTSIGRLIGIVTLKELRKAIE
GSVTAQGVKVRPPLASFRDSATSSSDTETTEVHALWGPHSRHGLPREGSPSDSDDKCQ
Number of residues
898
Molecular Weight
98534.425
Theoretical pI
8.47
GO Classification
Functions
voltage-gated chloride channel activity
Processes
cell differentiation involved in salivary gland development / ion transmembrane transport / regulation of anion transmembrane transport / retina development in camera-type eye / transmembrane transport / transport
Components
chloride channel complex / plasma membrane
General Function
Voltage-gated chloride channel activity
Specific Function
Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.
Pfam Domain Function
Transmembrane Regions
88-121 130-155 180-198 205-223 275-295 321-349 358-377 429-449 457-480 531-548
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0010542|Chloride channel protein 2 (CLCN2)
ATGGCGGCCGCGGCGGCGGAGGAAGGGATGGAGCCACGGGCGCTGCAGTACGAGCAGACC
CTGATGTATGGCCGGTACACTCAGGACCTTGGGGCCTTTGCCAAAGAGGAAGCTGCTCGG
ATTCGCCTGGGAGGGCCTGAACCCTGGAAAGGTCCCCCTTCCTCTCGGGCTGCCCCAGAG
CTCTTGGAATATGGACGGAGCCGTTGCGCCCGATGCCGCGTCTGTTCTGTCCGCTGCCAC
AAGTTCCTAGTATCCAGGGTTGGTGAAGATTGGATCTTCCTGGTCCTGCTGGGGCTTCTC
ATGGCATTGGTCAGCTGGGTCATGGACTATGCCATTGCTGCCTGTCTGCAAGCCCAGCAG
TGGATGTCCCGGGGCTTGAACACCAGCATCTTGCTCCAGTACCTGGCCTGGGTCACCTAC
CCTGTTGTCCTCATCACTTTCTCAGCCGGATTCACACAGATCCTGGCCCCTCAGGCTGTC
GGCTCTGGCATCCCTGAGATGAAGACCATCTTGCGGGGAGTGGTGCTGAAAGAATACCTC
ACACTCAAGACCTTTATAGCTAAGGTCATTGGGCTGACCTGCGCCCTAGGCAGCGGGATG
CCGCTTGGCAAAGAGGGCCCTTTTGTGCATATCGCAAGCATGTGTGCTGCCCTTCTCAGC
AAGTTCCTCTCCCTCTTTGGGGGTATCTATGAGAATGAATCCCGGAACACAGAGATGCTG
GCTGCCGCCTGTGCCGTGGGGGTGGGCTGCTGCTTCGCGGCACCTATTGGAGGCGTCCTC
TTCAGCATCGAGGTCACCTCCACCTTCTTTGCAGTGCGGAACTACTGGCGGGGCTTCTTC
GCTGCCACCTTCAGTGCCTTCATCTTCCGGGTCTTGGCAGTCTGGAACCGGGATGAAGAG
ACTATTACAGCCCTCTTCAAAACCCGATTCCGGCTCGACTTCCCCTTTGACCTGCAGGAG
CTGCCAGCCTTTGCTGTCATTGGTATTGCTAGTGGCTTCGGTGGAGCCCTCTTTGTCTAC
CTGAACCGGAAGATTGTCCAGGTGATGCGGAAGCAGAAAACCATCAATCGCTTCCTCATG
AGGAAACGCCTGCTCTTCCCGGCTCTGGTGACCCTGCTCATCTCCACGCTGACCTTCCCC
CCTGGCTTTGGACAGTTCATGGCTGGACAGCTCTCACAGAAAGAGACGCTGGTCACCCTG
TTTGACAATCGGACGTGGGTCCGCCAGGGCCTGGTGGAGGAGCTAGAACCACCCAGCACC
TCACAGGCCTGGAACCCACCACGTGCCAACGTCTTCCTCACCCTGGTCATCTTCATTCTC
ATGAAGTTCTGGATGTCTGCACTGGCCACCACCATCCCAGTTCCCTGTGGGGCCTTCATG
CCTGTCTTTGTCATTGATGGAATTCATACGGACAGCAGCACCTACCGGATTGTGCCTGGG
GGCTACGCTGTGGTCGGGGCAGCTGCGCTGGCAGGAGCGGTGACACACACAGTGTCCACG
GCTGTGATCGTGTTCGAGCTCACAGGCCAGATTGCCCACATCCTGCCTGTCATGATCGCC
GTCATCCTGGCCAACGCTGTCGCCCAGAGTCTGCAGCCCTCCCTCTATGACAGCATCATC
CGAATCAAGAAACTGCCCTACCTGCCTGAGCTCGGCTGGGGCCGCCACCAGCAGTACCGG
GTGCGTGTGGAGGACATCATGGTGCGGGATGTTCCCCATGTGGCCCTCAGCTGCACCTTC
CGGGACCTGCGTTTGGCACTGCACAGGACCAAGGGCCGAATGCTGGCCCTAGTGGAGTCC
CCTGAGTCCATGATTCTGCTGGGCTCCATCGAGCGTTCACAGGTGGTGGCATTGTTGGGG
GCCCAGCTGAGCCCAGCCCGCCGGCGGCAGCACATGCAGGAGCGCAGAGCCACCCAGACC
TCTCCACTATCTGATCAGGAGGGTCCCCCTACCCCTGAGGCTTCTGTCTGCTTCCAGGTG
AACACAGAAGACTCAGCCTTCCCAGCAGCCCGGGGGGAGACCCACAAGCCCCTAAAGCCT
GCACTCAAGAGGGGGCCCAGTGTCACCAGGAACCTCGGAGAGAGTCCCACAGGGAGCGCA
GAGTCGGCAGGCATCGCCCTCCGGAGCCTCTTCTGTGGCAGTCCACCCCCTGAGGCTGCT
TCGGAGAAGTTGGAATCCTGTGAGAAGCGCAAGCTGAAGCGTGTCCGAATCTCCCTGGCA
AGTGACGCGGACCTGGAAGGCGAGATGAGCCCTGAAGAGATTCTGGAGTGGGAGGAGCAG
CAACTAGATGAACCTGTCAACTTCAGTGACTGCAAAATTGATCCTGCTCCCTTCCAGCTG
GTGGAGCGGACCTCTTTGCACAAGACTCACACTATCTTCTCACTGCTGGGAGTGGACCAT
GCTTATGTCACCAGTATTGGCAGACTCATTGGAATCGTTACTCTAAAGGAGCTCCGGAAG
GCCATCGAGGGCTCTGTCACAGCACAGGGTGTGAAAGTCCGGCCGCCCCTCGCCAGCTTC
CGAGACAGTGCCACCAGCAGCAGTGACACGGAGACCACTGAGGTGCATGCACTCTGGGGG
CCCCACTCCCGTCATGGCCTCCCCCGGGAGGGCAGCCCTTCCGACAGCGACGACAAATGC
CAATGA
Chromosome Location
3
Locus
3q27-q28
External Identifiers
ResourceLink
UniProtKB IDP51788
UniProtKB Entry NameCLCN2_HUMAN
GenBank Protein ID2570864
GenBank Gene IDAF026004
GenAtlas IDCLCN2
HGNC IDHGNC:2020
General References
  1. Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR: Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues. Hum Mol Genet. 1995 Mar;4(3):407-13. [Article]
  2. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
  3. Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA: The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. [Article]
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  5. Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC: Expression of CLCN voltage-gated chloride channel genes in human blood vessels. J Mol Cell Cardiol. 1999 Mar;31(3):657-66. [Article]
  6. Niemeyer MI, Cid LP, Yusef YR, Briones R, Sepulveda FV: Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons. J Physiol. 2009 Apr 1;587(Pt 7):1387-400. doi: 10.1113/jphysiol.2008.167353. Epub 2009 Jan 19. [Article]
  7. Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet. 2003 Apr;33(4):527-32. Epub 2003 Mar 3. [Article]
  8. Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H: Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet. 2009 Sep;41(9):1043. doi: 10.1038/ng0909-1043. [Article]
  9. Van Damme P, Lasa M, Polevoda B, Gazquez C, Elosegui-Artola A, Kim DS, De Juan-Pardo E, Demeyer K, Hole K, Larrea E, Timmerman E, Prieto J, Arnesen T, Sherman F, Gevaert K, Aldabe R: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12449-54. doi: 10.1073/pnas.1210303109. Epub 2012 Jul 18. [Article]
  10. Paul J, Jeyaraj S, Huber SM, Seebohm G, Bohmer C, Lang F, Kremsner PG, Kun JF: Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics. Cell Physiol Biochem. 2007;20(5):441-54. [Article]
  11. Combi R, Grioni D, Contri M, Redaelli S, Redaelli F, Bassi MT, Barisani D, Lavitrano ML, Tredici G, Tenchini ML, Bertolini M, Dalpra L: Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy. Brain Res Bull. 2009 Apr 29;79(2):89-96. doi: 10.1016/j.brainresbull.2009.01.008. Epub 2009 Feb 5. [Article]
  12. Kleefuss-Lie A, Friedl W, Cichon S, Haug K, Warnstedt M, Alekov A, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H: CLCN2 variants in idiopathic generalized epilepsy. Nat Genet. 2009 Sep;41(9):954-5. doi: 10.1038/ng0909-954. [Article]
  13. Saint-Martin C, Gauvain G, Teodorescu G, Gourfinkel-An I, Fedirko E, Weber YG, Maljevic S, Ernst JP, Garcia-Olivares J, Fahlke C, Nabbout R, LeGuern E, Lerche H, Poncer JC, Depienne C: Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat. 2009 Mar;30(3):397-405. doi: 10.1002/humu.20876. [Article]
  14. Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS: Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol. 2013 Jul;12(7):659-68. doi: 10.1016/S1474-4422(13)70053-X. Epub 2013 May 22. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB01046Lubiprostoneapproved, investigationalyesinducerDetails
DB05514CobiprostoneinvestigationalunknownDetails