Entity Details

Primary name AMHR2
Entity type gene
Source Source Link

Details

PrimaryID269
RefseqGeneNG_015981
SymbolAMHR2
Nameanti-Mullerian hormone receptor type 2
Chromosome12
Location12q13.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsAMHR2_HUMAN

GO terms

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GOName
GO:0001880 Mullerian duct regression
GO:0004674 protein serine/threonine kinase activity
GO:0005026 transforming growth factor beta receptor activity, type II
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0006468 protein phosphorylation
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007548 sex differentiation
GO:0008584 male gonad development
GO:0008585 female gonad development
GO:0017002 activin-activated receptor activity
GO:0030509 BMP signaling pathway
GO:0032924 activin receptor signaling pathway
GO:0042562 hormone binding
GO:0043235 receptor complex
GO:0046872 metal ion binding
GO:0048179 activin receptor complex
GO:0048185 activin binding
GO:0071363 cellular response to growth factor stimulus
GO:1990262 anti-Mullerian hormone signaling pathway
GO:1990272 anti-Mullerian hormone receptor activity

Diseases

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Disease IDSourceNameDescription
261550 OMIMPersistent Muellerian duct syndrome 1 (PMDS1)A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions