AMHR2 anti-Mullerian hormone receptor, type II [Homo sapiens] - Gene

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Summary

Official Symbol: AMHR2provided by HGNC
Official Full Name: anti-Mullerian hormone receptor, type IIprovided by HGNC
Primary source: HGNC:465
See related: Ensembl:ENSG00000135409; HPRD:02978; MIM:600956; Vega:OTTHUMG00000170048
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMHR; MRII; MISR2; MISRII
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]

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Genomic context

Location :: 12q13

Sequence :: Chromosome: 12; NC_000012.11 (53817639..53825318)

See AMHR2 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

AMH thus exemplifies a new mechanism for receptor engagement in which interaction with the type II receptor promotes pro-region dissociation to generate mature ligand.
Title: Processing of anti-mullerian hormone regulates receptor activation by a mechanism distinct from TGF-beta.
Genetic variants of AMH and AMHRII genes seem to be associated with infertility.
Title: Association study of AMH and AMHRII polymorphisms with unexplained infertility.
Association studies of common variants of AMHRII suggests that antimullerian hormone may regulate the primordial graafian follicle recruitment.
Title: Anti-Müllerian hormone (AMH): regulator and marker of ovarian function.
data demonstrate that polymorphisms in major folliculogenesis genes, GDF9, BMP15, AMH, and AMHR2, are not associated with polycystic ovary syndrome susceptibility.
Title: Association study of four key folliculogenesis genes in polycystic ovary syndrome.
Mutations of AMHR2 found in persistent Mullerian duct syndrome affect its ligand binding and cellular transport.
Title: Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport.
Non-epithelial malignant ovarian tumors showed stronger expression of anti-Mullerian hormone receptor type II than that of epithelial tumors.
Title: The expression of Müllerian inhibiting substance/anti-Müllerian hormone type II receptor protein and mRNA in benign, borderline and malignant ovarian neoplasia.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
AMHR genes are overexpressed by granulosa cells from stimulated follicles of women with polycystic ovary syndrome undergoing controlled ovarian hyperstimulation.
Title: Anti-Mullerian hormone, its receptor, FSH receptor, and androgen receptor genes are overexpressed by granulosa cells from stimulated follicles in women with polycystic ovary syndrome.
Reduced AMH receptor type 2 is associated with Leydig cell tumours in multiple endocrine neoplasia type 1
Title: Deregulation of anti-Mullerian hormone/BMP and transforming growth factor-beta pathways in Leydig cell lesions developed in male heterozygous multiple endocrine neoplasia type 1 mutant mice.
Observational study of gene-disease association. (HuGE Navigator)
Title: Single nucleotide polymorphisms in the anti-Müllerian hormone signalling pathway do not determine high or low response to ovarian stimulation.

Submit: New GeneRIF Correction See all (16)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Persistent Mullerian duct syndrome, type II

MIM: 261550

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Products	Interactant	Other Gene	Source	Pubs	Description
Q16671	P03971	AMH	HPRD	PubMed
Q16671	O00238	BMPR1B	HPRD	PubMed
Q16671	P36897	TGFBR1	HPRD	PubMed
BioGRID:106766	BioGRID:111700	PTEN	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
hormone binding	IPI Inferred from Physical Interaction more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
transforming growth factor beta receptor activity, type II	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
Mullerian duct regression	NAS Non-traceable Author Statement more info	PubMed
sex differentiation	ISS Inferred from Sequence or Structural Similarity more info
sex differentiation	TAS Traceable Author Statement more info	PubMed
signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to plasma membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: anti-Muellerian hormone type-2 receptor

Names: anti-Muellerian hormone type-2 receptor; AMH type II receptor; MIS type II receptor; anti-Muellerian hormone type II receptor; Mullerian inhibiting substance type II receptor

NP_001158162.1

EC 2.7.11.30

NP_001158163.1

EC 2.7.11.30

NP_065434.1

EC 2.7.11.30

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_015981.1 RefSeqGene

Range

5001..12680

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001164690.1 → NP_001158162.1 anti-Muellerian hormone type-2 receptor isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region which results in a frameshift and early stop codon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AJ572328, AK313593, DB020573

Consensus CDS

CCDS55829.1

UniProtKB/TrEMBL

F8W1D2

Related

ENSP00000446661, OTTHUMP00000242708, ENST00000550311, OTTHUMT00000407049

Conserved Domains (2) summary

cd00180
Location:209 – 429
Blast Score: 285

PKc; Catalytic domain of Protein Kinases

pfam01064
Location:61 – 123
Blast Score: 85

Activin_recp; Activin types I and II receptor domain
NM_001164691.1 → NP_001158163.1 anti-Muellerian hormone type-2 receptor isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two exons in the 3' coding region compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.

Source sequence(s)

AJ572328, AY714878, BC126316, DB020573

Consensus CDS

CCDS53798.1

UniProtKB/TrEMBL

E9PGD2

UniProtKB/Swiss-Prot

Q16671

UniProtKB/TrEMBL

Q647K2

Related

ENSP00000369117, OTTHUMP00000242709, ENST00000379791, OTTHUMT00000407050

Conserved Domains (1) summary

cd00180
Location:209 – 404
Blast Score: 231

PKc; Catalytic domain of Protein Kinases
NM_020547.2 → NP_065434.1 anti-Muellerian hormone type-2 receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).

Source sequence(s)

AC068889, AF172932, DB020573

Consensus CDS

CCDS8858.1

UniProtKB/Swiss-Prot

Q16671

Related

ENSP00000257863, OTTHUMP00000242707, ENST00000257863, OTTHUMT00000407048

Conserved Domains (3) summary

cd00180
Location:209 – 432
Blast Score: 293

PKc; Catalytic domain of Protein Kinases

pfam01064
Location:61 – 123
Blast Score: 79

Activin_recp; Activin types I and II receptor domain

pfam00069
Location:203 – 511
Blast Score: 370

Pkinase; Protein kinase domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

53817639..53825318

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

50858022..50865704

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC068889.35 (20689..28360)	None
genomic	CH471054.1	EAW96701.1
genomic	U29700.1	AAC50328.1
genomic	X89013.1	CAA61418.1
genomic	X91156.1	CAA62593.1
genomic	X91157.1	None
genomic	X91158.1	None
genomic	X91159.1	None
genomic	X91160.1	None
genomic	X91161.1	None
genomic	X91162.1	None
genomic	X91163.1	None
genomic	X91164.1	None
genomic	X91165.1	None
genomic	X91166.1	None
mRNA	AF172932.1	AAD48497.1
mRNA	AJ572328.1	None
mRNA	AK313593.1	None
mRNA	AY714878.1	AAU21221.1
mRNA	BC126316.1	AAI26317.1
mRNA	BC136356.1	AAI36357.1
mRNA	CR627318.1	None
mRNA	DB020573.1	None
other-genetic	HQ258327.1	ADR83081.1