Anti-Muellerian hormone type-2 receptor

Details

Name
Anti-Muellerian hormone type-2 receptor
Synonyms
  • 2.7.11.30
  • AMH type II receptor
  • AMHR
  • Anti-Muellerian hormone type II receptor
  • MIS type II receptor
  • MISR2
  • MISRII
  • MRII
Gene Name
AMHR2
Organism
Humans
Amino acid sequence
>lcl|BSEQ0001346|Anti-Muellerian hormone type-2 receptor
MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRC
CFGIWNLTQDRAQVEMQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANY
SHLPPPGSPGTPGSQGPQAAPGESIWMALVLLGLFLLLLLLLGSIILALLQRKNYRVRGE
PVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVWAGQLQGKLVAIKAFPPRSVAQF
QAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLELHPKGSLCHYLTQYTSDWGS
SLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPG
LTQPPAWTPTQPQGPAAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEI
LSRCPDLRPDSSPPPFQLAYEAELGNTPTSDELWALAVQERRRPYIPSTWRCFATDPDGL
RELLEDCWDADPEARLTAECVQQRLAALAHPQESHPFPESCPRGCPPLCPEDCTSIPAPT
ILPCRPQRSACHFSVQQGPCSRNPQPACTLSPV
Number of residues
573
Molecular Weight
62749.02
Theoretical pI
5.61
GO Classification
Functions
anti-Mullerian hormone receptor activity / ATP binding / hormone binding / metal ion binding / receptor activity / receptor signaling protein serine/threonine kinase activity / transforming growth factor beta receptor activity, type II
Processes
female gonad development / male gonad development / Mullerian duct regression / negative regulation of anti-Mullerian hormone signaling pathway / sex differentiation / signal transduction / transforming growth factor beta receptor signaling pathway
Components
integral component of plasma membrane
General Function
Transforming growth factor beta receptor activity, type ii
Specific Function
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone.
Pfam Domain Function
Transmembrane Regions
150-170
Cellular Location
Membrane
Gene sequence
>lcl|BSEQ0016172|Anti-Muellerian hormone type-2 receptor (AMHR2)
ATGCTAGGGTCTTTGGGGCTTTGGGCATTACTTCCCACAGCTGTGGAAGCACCCCCAAAC
AGGCGAACCTGTGTGTTCTTTGAGGCCCCTGGAGTGCGGGGAAGCACAAAGACACTGGGA
GAGCTGCTAGATACAGGCACAGAGCTCCCCAGAGCTATCCGCTGCCTCTACAGCCGCTGC
TGCTTTGGGATCTGGAACCTGACCCAAGACCGGGCACAGGTGGAAATGCAAGGATGCCGA
GACAGTGATGAGCCAGGCTGTGAGTCCCTCCACTGTGACCCAAGTCCCCGAGCCCACCCC
AGCCCTGGCTCCACTCTCTTCACCTGCTCCTGTGGCACTGACTTCTGCAATGCCAATTAC
AGCCATCTGCCTCCTCCAGGGAGCCCTGGGACTCCTGGCTCCCAGGGTCCCCAGGCTGCC
CCAGGTGAGTCCATCTGGATGGCACTGGTGCTGCTGGGGCTGTTCCTCCTCCTCCTGCTG
CTGCTGGGCAGCATCATCTTGGCCCTGCTACAGCGAAAGAACTACAGAGTGCGAGGTGAG
CCAGTGCCAGAGCCAAGGCCAGACTCAGGCAGGGACTGGAGTGTGGAGCTGCAGGAGCTG
CCTGAGCTGTGTTTCTCCCAGGTAATCCGGGAAGGAGGTCATGCAGTGGTTTGGGCCGGG
CAGCTGCAAGGAAAACTGGTTGCCATCAAGGCCTTCCCACCGAGGTCTGTGGCTCAGTTC
CAAGCTGAGAGAGCATTGTACGAACTTCCAGGCCTACAGCACGACCACATTGTCCGATTT
ATCACTGCCAGCCGGGGGGGTCCTGGCCGCCTGCTCTCTGGGCCCCTGCTGGTACTGGAA
CTGCATCCCAAGGGCTCCCTGTGCCACTACTTGACCCAGTACACCAGTGACTGGGGAAGT
TCCCTGCGGATGGCACTGTCCCTGGCCCAGGGCCTGGCATTTCTCCATGAGGAGCGCTGG
CAGAATGGCCAATATAAACCAGGTATTGCCCACCGAGATCTGAGCAGCCAGAATGTGCTC
ATTCGGGAAGATGGATCGTGTGCCATTGGAGACCTGGGCCTTGCCTTGGTGCTCCCTGGC
CTCACTCAGCCCCCTGCCTGGACCCCTACTCAACCACAAGGCCCAGCTGCCATCATGGAA
GCTGGCACCCAGAGGTACATGGCACCAGAGCTCTTGGACAAGACTCTGGACCTACAGGAT
TGGGGCATGGCCCTCCGACGAGCTGATATTTACTCTTTGGCTCTGCTCCTGTGGGAGATA
CTGAGCCGCTGCCCAGATTTGAGGCCTGCAGTCCACCACCCTTCCAACTGGCCTATGAGG
CAGAACTGGGCAATACCCCTACCTCTGATGAGCTATGGGCCTTGGCAGTGCAGGAGAGGA
GGCGTCCCTACATCCCATCCACCTGGCGCTGCTTTGCCACAGACCCTGATGGGCTGA
Chromosome Location
12
Locus
12q13
External Identifiers
ResourceLink
UniProtKB IDQ16671
UniProtKB Entry NameAMHR2_HUMAN
GenBank Protein ID1212944
GenBank Gene IDX89013
GenAtlas IDAMHR2
HGNC IDHGNC:465
General References
  1. Imbeaud S, Faure E, Lamarre I, Mattei MG, di Clemente N, Tizard R, Carre-Eusebe D, Belville C, Tragethon L, Tonkin C, Nelson J, McAuliffe M, Bidart JM, Lababidi A, Josso N, Cate RL, Picard JY: Insensitivity to anti-mullerian hormone due to a mutation in the human anti-mullerian hormone receptor. Nat Genet. 1995 Dec;11(4):382-8. [PubMed:7493017]
  2. Visser JA, McLuskey A, van Beers T, Weghuis DO, van Kessel AG, Grootegoed JA, Themmen AP: Structure and chromosomal localization of the human anti-mullerian hormone type II receptor gene. Biochem Biophys Res Commun. 1995 Oct 24;215(3):1029-36. [PubMed:7488027]
  3. Masiakos PT, MacLaughlin DT, Maheswaran S, Teixeira J, Fuller AF Jr, Shah PC, Kehas DJ, Kenneally MK, Dombkowski DM, Ha TU, Preffer FI, Donahoe PK: Human ovarian cancer, cell lines, and primary ascites cells express the human Mullerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS. Clin Cancer Res. 1999 Nov;5(11):3488-99. [PubMed:10589763]
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  5. Scherer SE, Muzny DM, 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, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA: The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. [PubMed:16541075]
  6. 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. [PubMed:15489334]
  7. Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY: A 27 base-pair deletion of the anti-mullerian type II receptor gene is the most common cause of the persistent mullerian duct syndrome. Hum Mol Genet. 1996 Sep;5(9):1269-77. [PubMed:8872466]
  8. Messika-Zeitoun L, Gouedard L, Belville C, Dutertre M, Lins L, Imbeaud S, Hughes IA, Picard JY, Josso N, di Clemente N: Autosomal recessive segregation of a truncating mutation of anti-Mullerian type II receptor in a family affected by the persistent Mullerian duct syndrome contrasts with its dominant negative activity in vitro. J Clin Endocrinol Metab. 2001 Sep;86(9):4390-7. [PubMed:11549681]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00171ATPinvestigational, nutraceuticalunknownDetails