• Gene id: 269

Gene Summary

• Gene Symbol: AMHR2   Gene   UCSC   Ensembl
• Aliases: AMHR, MISR2, MISRII, MRII
• Gene name: anti-Mullerian hormone receptor type 2
• Alternate names: anti-Muellerian hormone type-2 receptor, AMH type II receptor, MIS type II receptor, Muellerian inhibiting substance type II receptor, Mullerian inhibiting substance type II receptor, anti-Muellerian hormone type II receptor, anti-Mullerian hormone recept,
• Gene location: 12q13.13 (53423854: 53431671)     Exons: 13     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 600956

Protein Summary

• Protein general information: Q16671  
  • 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)
  • Length: 573  
  • Mass: 62,750
  • Tissue specificity: Mainly expressed in pachytene spermatocytes of testis and in lymphocyte-rich areas of spleen and lymph nodes. Isoform v1 is expressed in spleen. Isoform v2 is expressed in testis. Also detected in ovary, placenta, pancreas, cardiac fib
• Sequence:

  MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRCCFGIWNLTQDRAQVE
  MQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANYSHLPPPGSPGTPGSQGPQAAPGESIWMALV
  LLGLFLLLLLLLGSIILALLQRKNYRVRGEPVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVWAGQLQGK
  LVAIKAFPPRSVAQFQAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLELHPKGSLCHYLTQYTSDWGS
  SLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPGLTQPPAWTPTQPQGP
  AAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEILSRCPDLRPDSSPPPFQLAYEAELGNTPTS
  DELWALAVQERRRPYIPSTWRCFATDPDGLRELLEDCWDADPEARLTAECVQQRLAALAHPQESHPFPESCPRGC
  PPLCPEDCTSIPAPTILPCRPQRSACHFSVQQGPCSRNPQPACTLSPV

• Structural information:
  • Protein Domains: Protein (203-518)
  • Interpro: IPR000472  IPR015771  IPR011009  IPR000719  IPR000333  
  • Prosite: PS50011
  • STRING: ENSP00000257863
• Other Databases: GeneCards:  AMHR2  Malacards:  AMHR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001880	Mullerian duct regression	NAS	biological process
GO:0004702	signal transducer, downstream of receptor, with serine/threonine kinase activity	IEA	molecular function
GO:0004872	receptor activity	IMP	molecular function
GO:0005026	transforming growth factor beta receptor activity, type II	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007165	signal transduction	IMP	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0007548	sex differentiation	ISS	biological process
GO:0007548	sex differentiation	TAS	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0023014	signal transduction by protein phosphorylation	IEA	biological process
GO:0042562	hormone binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:1902613	negative regulation of anti-Mullerian hormone signaling pathway	IEA	biological process
GO:1990262	anti-Mullerian hormone signaling pathway	IEA	biological process
GO:1990272	anti-Mullerian hormone receptor activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001880	Mullerian duct regression	NAS	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0004702	signal transducer, downstream of receptor, with serine/threonine kinase activity	IEA	molecular function
GO:0004872	receptor activity	IMP	molecular function
GO:0005026	transforming growth factor beta receptor activity, type II	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007165	signal transduction	IMP	biological process
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0007548	sex differentiation	IEA	biological process
GO:0007548	sex differentiation	ISS	biological process
GO:0007548	sex differentiation	TAS	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0023014	signal transduction by protein phosphorylation	IEA	biological process
GO:0042562	hormone binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:1902613	negative regulation of anti-Mullerian hormone signaling pathway	IEA	biological process
GO:1990262	anti-Mullerian hormone signaling pathway	IEA	biological process
GO:1990272	anti-Mullerian hormone receptor activity	IEA	molecular function
GO:0001880	Mullerian duct regression	NAS	biological process
GO:0004872	receptor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IMP	biological process
GO:0007548	sex differentiation	ISS	biological process
GO:0007548	sex differentiation	TAS	biological process
GO:0042562	hormone binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Cancer	GAD: 19064572
Cancer (epithelial ovarian)	GAD: 19064572
Noonan syndrome	KEGG: H00523
Obesity	GAD: 20734064
Premature ovarian failure (POF)	GAD: 12477536
Anovulation	INFBASE: 23321213
Premature ovarian insufficiency (POI)	INFBASE: 24146295
Mullerian structure defects	INFBASE: 15221321
Congenital absence of the uterus and vagina (CAUV)	INFBASE: 11223848
Polycystic ovary syndrome (PCOS)	INFBASE: 23321213
Female infertility	INFBASE: 11549681
Polycystic ovary syndrome (PCOS)	INFBASE: 25012254
Primary follicle recruitment	INFBASE: 21193543
Ovarian hyperstimulation syndrome (OHSS)	INFBASE: 25790842
Ovarian reserve	INFBASE: 27142041
Unexplained infertility	INFBASE: 19539910
Malfunction of follicular development	INFBASE: 24271023
Male factor infertility	MIK: 18547961
Bilateral cryptorchidism	MIK: 20480734
Male factor infertility	MIK: 18547961
Undescended testis	MIK: 27162065
Male factor infertility	MIK: 27162065
Persistent mullerian duct syndrome	MIK: 14745940
Persistent mullerian duct syndrome	MIK: 8872466
Endometriosis	INFBASE: 24613539
Female infertility	GAD: 19539910
Male infertility	MIK: 18547961
Persistent mullerian duct syndrome	MIK: 18547961
Bilateral cryptorchidism	MIK: 20480734
Teratozoospermia	MIK: 17327269
Undescended testis	MIK: 27162065

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
8872466	Persistent Müllerian duct syndrome	27 bp deletion in exon 10 of AMHRII, several mutations in AMH, AMHRII mutations identified		38 families	Male infertility	AMH AMHR II
18547961	Male infertility	27-bp deletion in the AMHR2 gene, p.A405P, p.G326V plus the p.V508A	Italian	1 Persistentmullerian duct syndrome (PMDS)	Male infertility	AMH AMHR2
27162065	Undescended testis			163 (105 patients with cryptorchidism, 58 controls)	Male infertility
20480734	Persistent Müllerian duct syndrome (PMDS), Bilateral cryptorchidism	27 bp deletion		1 bilateral cryptorchidism, 1 remnants of vas deferens and gonads with macroscopic characteristics of ovaries, along with Fallopian tubes and a rudimentary uterus	Male infertility
22584735	Persistent Müllerian duct syndrome		Middle eastern	14 (8 boys, 6 girls)	Male infertility, Female infertility	AMH type II receptor
19457927	Persistent Mullerian duct syndrome				Male infertility
18547961	Persistent mullerian duct syndrome	27-bp deletion in the AMHR2 gene, p.A405P, p.G326V, p.V508A	Italian	1 Persistentmullerian duct syndrome (PMDS)	Male infertility	AMH AMHR2
14745940	Persistent Mullerian duct syndrome	27-bp deletion in exon 10 in one allele and a novel mutation in intron 5 in the other allele of the MISRII gene		23 (1 46,XY male with persistent PMDS, 22 normal individuals)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)