AMHR2: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

AMHR2

Aliases

AMHR, MISR2, MISRII, MRII

Entrez Gene ID

269

Gene Name

Anti-Mullerian hormone receptor type 2

Chromosomal Location

12q13.13

HGNC ID

HGNC:465

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 promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]

RefSeq DNA

NG_015981.1

RefSeq mRNA

NM_020547.3, NM_001164690.2, NM_001164691.2

e!Ensembl

Gene	ENSG00000135409
Transcript	ENST00000257863, ENST00000550311, ENST00000379791, ENST00000550839
Protein	ENSP00000257863, ENSP00000446661, ENSP00000369117, ENSP00000455338

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs2002555	TTGTGGGACTTCAGAAGAGAGAAAGA	C/T	GTGGGCTGGACATCAAAGAAGGCCT	-482 A>G	23969185

Gene Ontology (GO)

Show/Hide all(16 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001880	Biological process	Mullerian duct regression	NAS	14750901
GO:0007179	Biological process	Transforming growth factor beta receptor signaling pathway	IBA	21873635
GO:0007389	Biological process	Pattern specification process	IBA	21873635
GO:0007548	Biological process	Sex differentiation	IBA	21873635
GO:0007548	Biological process	Sex differentiation	TAS	12834017
GO:1990262	Biological process	Anti-Mullerian hormone signaling pathway	IMP	7493017
GO:0005887	Cellular component	Integral component of plasma membrane	IBA	21873635
GO:0043235	Cellular component	Receptor complex	IBA	21873635
GO:0005024	Molecular function	Transforming growth factor beta-activated receptor activity	IBA	21873635
GO:0005026	Molecular function	Transforming growth factor beta receptor activity, type II	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	22939624
GO:0019838	Molecular function	Growth factor binding	IBA	21873635
GO:0042562	Molecular function	Hormone binding	IPI	14750901
GO:0046332	Molecular function	SMAD binding	IBA	21873635
GO:1990272	Molecular function	Anti-Mullerian hormone receptor activity	IBA	21873635
GO:1990272	Molecular function	Anti-Mullerian hormone receptor activity	IMP	7493017

Protein Information

Protein Name

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 receptor, type II

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

Refseq Proteins

NP_065434.1, NP_001158162.1, NP_001158163.1

UniProt

Q16671

Pfam

Pfam Accession	Pfam ID
PF01064	Activin_recp
PF00069	Pkinase