AMHR2 (anti-Mullerian hormone receptor type 2)

Gene

• Entrez ID: 269
• Gene name: Anti-Mullerian hormone receptor type 2
• Gene symbol: AMHR2
• Synonyms: AMHR, MISR2, MISRII, MRII
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promot

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853104	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs374247138	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, synonymous variant, intron variant, coding sequence variant
rs374601719	G>A,C	Likely-pathogenic	Non coding transcript variant, missense variant, stop gained, intron variant, coding sequence variant
rs781745214	C>T	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017356	hsa-miR-335-5p	Microarray	18185580

Transcription factors

Transcription factor	Regulation	Reference
APC	Repression	12724325

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001880	Process	Mullerian duct regression	NAS	14750901
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0005026	Function	Transforming growth factor beta receptor activity, type II	IEA
GO:0005515	Function	Protein binding	IPI	22939624, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA	21873635
GO:0007548	Process	Sex differentiation	ISS
GO:0007548	Process	Sex differentiation	TAS	12834017
GO:0008584	Process	Male gonad development	IEA
GO:0008585	Process	Female gonad development	IEA
GO:0017002	Function	Activin-activated receptor activity	IBA	21873635
GO:0030509	Process	BMP signaling pathway	TAS
GO:0032924	Process	Activin receptor signaling pathway	IBA	21873635
GO:0042562	Function	Hormone binding	IPI	14750901
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0048179	Component	Activin receptor complex	IBA	21873635
GO:0048185	Function	Activin binding	IBA	21873635
GO:0071363	Process	Cellular response to growth factor stimulus	IBA	21873635
GO:1990262	Process	Anti-Mullerian hormone signaling pathway	IMP	7493017
GO:1990272	Function	Anti-Mullerian hormone receptor activity	IMP	7493017

Other IDs

• MIM: 600956
• HGNC: 465
• e!Ensembl: ENSG00000135409

Protein

• UniProt ID: Q16671
• Protein name: Anti-Muellerian hormone type-2 receptor (EC 2.7.11.30) (Anti-Muellerian hormone type II receptor) (AMH type II receptor) (MIS type II receptor) (MISRII) (MRII)
• Protein 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 trans
• PDB: 7L0J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01064	Activin_recp	46 → 120	Activin types I and II receptor domain	Domain
  PF00069	Pkinase	205 → 505	Protein kinase domain	Domain

• Sequence:

  MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRC
  CFGIWNLTQDRAQVEMQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANY
  SHLPPPGSPGTPGSQGPQAAPGESIWMALVLLGLFLLLLLLLGSIILALLQRKNYRVRGE
  PVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVWAGQLQGKLVAIKAFPPRSVAQF
  QAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLELHPKGSLCHYLTQYTSDWGS
  SLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPG
  LTQPPAWTPTQPQGPAAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEI
  LSRCPDLRPDSSPPPFQLAYEAELGNTPTSDELWALAVQERRRPYIPSTWRCFATDPDGL
  RELLEDCWDADPEARLTAECVQQRLAALAHPQESHPFPESCPRGCPPLCPEDCTSIPAPT
  ILPCRPQRSACHFSVQQGPCSRNPQPACTLSPV

• Sequence length: 573

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Hormone signaling
TGF-beta signaling pathway

Reactome:

Signaling by BMP

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Persistent mullerian duct syndrome	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, Persistent Müllerian duct syndrome	rs267606654, rs774592796, rs104894666, rs397518444, rs763798144, rs764761319, rs1939497801, rs137853104, rs781745214

Unknown
Disease name	Disease term	dbSNP ID	References
Female urogenital diseases	Female Urogenital Diseases		16002989
Male pseudohermaphroditism	Male Pseudohermaphroditism