Hmdb loader
Identification
HMDB Protein ID HMDBP01523
Secondary Accession Numbers
  • 6819
Name Anti-Muellerian hormone type-2 receptor
Synonyms
  1. AMH type II receptor
  2. Anti-Muellerian hormone type II receptor
  3. MIS type II receptor
  4. MISRII
  5. MRII
Gene Name AMHR2
Protein Type Unknown
Biological Properties
General Function Involved in transmembrane receptor protein serine/threonine kinase activity
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
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
transmembrane receptor protein serine/threonine kinase activity
transforming growth factor beta receptor activity
ion binding
cation binding
metal ion binding
binding
catalytic activity
transferase activity
transferase activity, transferring phosphorus-containing groups
kinase activity
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
adenyl ribonucleotide binding
atp binding
receptor activity
molecular transducer activity
signal transducer activity
hormone binding
protein kinase activity
protein serine/threonine kinase activity
receptor signaling protein serine/threonine kinase activity
Process
phosphorus metabolic process
phosphate metabolic process
metabolic process
biological regulation
regulation of biological process
cellular metabolic process
regulation of cellular process
signal transduction
protein amino acid phosphorylation
phosphorylation
Cellular Location
  1. Membrane
  2. Single-pass type I membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 12q13
SNPs AMHR2
Gene Sequence
>1722 bp
ATGCTAGGGTCTTTGGGGCTTTGGGCATTACTTCCCACAGCTGTGGAAGCACCCCCAAAC
AGGCGAACCTGTGTGTTCTTTGAGGCCCCTGGAGTGCGGGGAAGCACAAAGACACTGGGA
GAGCTGCTAGATACAGGCACAGAGCTCCCCAGAGCTATCCGCTGCCTCTACAGCCGCTGC
TGCTTTGGGATCTGGAACCTGACCCAAGACCGGGCACAGGTGGAAATGCAAGGATGCCGA
GACAGTGATGAGCCAGGCTGTGAGTCCCTCCACTGTGACCCAAGTCCCCGAGCCCACCCC
AGCCCTGGCTCCACTCTCTTCACCTGCTCCTGTGGCACTGACTTCTGCAATGCCAATTAC
AGCCATCTGCCTCCTCCAGGGAGCCCTGGGACTCCTGGCTCCCAGGGTCCCCAGGCTGCC
CCAGGTGAGTCCATCTGGATGGCACTGGTGCTGCTGGGGCTGTTCCTCCTCCTCCTGCTG
CTGCTGGGCAGCATCATCTTGGCCCTGCTACAGCGAAAGAACTACAGAGTGCGAGGTGAG
CCAGTGCCAGAGCCAAGGCCAGACTCAGGCAGGGACTGGAGTGTGGAGCTGCAGGAGCTG
CCTGAGCTGTGTTTCTCCCAGGTAATCCGGGAAGGAGGTCATGCAGTGGTTTGGGCCGGG
CAGCTGCAAGGAAAACTGGTTGCCATCAAGGCCTTCCCACCGAGGTCTGTGGCTCAGTTC
CAAGCTGAGAGAGCATTGTACGAACTTCCAGGCCTACAGCACGACCACATTGTCCGATTT
ATCACTGCCAGCCGGGGGGGTCCTGGCCGCCTGCTCTCTGGGCCCCTGCTGGTACTGGAA
CTGCATCCCAAGGGCTCCCTGTGCCACTACTTGACCCAGTACACCAGTGACTGGGGAAGT
TCCCTGCGGATGGCACTGTCCCTGGCCCAGGGCCTGGCATTTCTCCATGAGGAGCGCTGG
CAGAATGGCCAATATAAACCAGGTATTGCCCACCGAGATCTGAGCAGCCAGAATGTGCTC
ATTCGGGAAGATGGATCATGTGCCATTGGAGACCTGGGCCTTGCCTTGGTGCTCCCTGGC
CTCACTCAGCCCCCTGCCTGGACCCCTACTCAACCACAAGGCCCAGCTGCCATCATGGAA
GCTGGCACCCAGAGGTACATGGCACCAGAGCTCTTGGACAAGACTCTGGACCTACAGGAT
TGGGGCATGGCCCTCCGACGAGCTGATATTTACTCTTTGGCTCTGCTCCTGTGGGAGATA
CTGAGCCGCTGCCCAGATTTGAGGCCTGACAGCAGTCCACCACCCTTCCAACTGGCCTAT
GAGGCAGAACTGGGCAATACCCCTACCTCTGATGAGCTATGGGCCTTGGCAGTGCAGGAG
AGGAGGCGTCCCTACATCCCATCCACCTGGCGCTGCTTTGCCACAGACCCTGATGGGCTG
AGGGAGCTCCTAGAAGACTGTTGGGATGCAGACCCAGAAGCACGGCTGACAGCTGAGTGT
GTACAGCAGCGCCTGGCTGCCTTGGCCCATCCTCAAGAGAGCCACCCCTTTCCAGAGAGC
TGTCCACGTGGCTGCCCACCTCTCTGCCCAGAAGACTGTACTTCAATTCCTGCCCCTACC
ATCCTCCCCTGTAGGCCTCAGCGGAGTGCCTGCCACTTCAGCGTTCAGCAAGGCCCTTGT
TCCAGGAATCCTCAGCCTGCCTGTACCCTTTCTCCTGTGTAA
Protein Properties
Number of Residues 573
Molecular Weight 62749.0
Theoretical pI 5.61
Pfam Domain Function
Signals
  • 1-17
Transmembrane Regions
  • 150-170
Protein Sequence
>Anti-Muellerian hormone type-2 receptor
MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRC
CFGIWNLTQDRAQVEMQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANY
SHLPPPGSPGTPGSQGPQAAPGESIWMALVLLGLFLLLLLLLGSIILALLQRKNYRVRGE
PVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVWAGQLQGKLVAIKAFPPRSVAQF
QAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLELHPKGSLCHYLTQYTSDWGS
SLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPG
LTQPPAWTPTQPQGPAAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEI
LSRCPDLRPDSSPPPFQLAYEAELGNTPTSDELWALAVQERRRPYIPSTWRCFATDPDGL
RELLEDCWDADPEARLTAECVQQRLAALAHPQESHPFPESCPRGCPPLCPEDCTSIPAPT
ILPCRPQRSACHFSVQQGPCSRNPQPACTLSPV
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q16671
UniProtKB/Swiss-Prot Entry Name AMHR2_HUMAN
PDB IDs Not Available
GenBank Gene ID AF172932
GeneCard ID AMHR2
GenAtlas ID AMHR2
HGNC ID HGNC:465
References
General References
  1. 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 ]
  2. 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 ]
  3. 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 ]
  4. 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 ]
  5. 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 ]
  6. 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 ]