Homo sapiens Gene: AMHR2
Summary
InnateDB Gene IDBG-36672.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMHR2
Gene Name anti-Mullerian hormone receptor, type II
Synonyms AMHR; MISR2; MISRII; MRII;
Species Homo sapiens
Ensembl Gene ENSG00000135409
Encoded Proteins
anti-Mullerian hormone receptor, type II
anti-Mullerian hormone receptor, type II
anti-Mullerian hormone receptor, type II
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:53423855-53431534
Strand Forward strand
Band q13.13
Transcripts
ENST00000257863 ENSP00000257863
ENST00000379791 ENSP00000369117
ENST00000550311 ENSP00000446661
ENST00000553037
ENST00000548303
ENST00000552233
ENST00000550839 ENSP00000455338
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0004702 receptor signaling protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004872 receptor activity
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005026 transforming growth factor beta receptor activity, type II
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0042562 hormone binding
GO:0046872 metal ion binding
GO:1990272 anti-Mullerian hormone receptor activity
Biological Process
GO:0001880 Mullerian duct regression
GO:0006468 protein phosphorylation
GO:0007165 signal transduction
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007548 sex differentiation
GO:0023014 signal transduction by phosphorylation
GO:1902613 negative regulation of anti-Mullerian hormone signaling pathway
GO:1990262 anti-Mullerian hormone signaling pathway
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Cytokine-cytokine receptor interaction pathway
TGF-beta signaling pathway pathway
INOH
TGF-beta signaling pathway
BMP2 signaling pathway
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
PID BIOCARTA
PID NCI
ALK2 signaling events
Cross-References
SwissProt
TrEMBL H3BPI9
UniProt Splice Variant
Entrez Gene 269
UniGene Hs.659889
RefSeq NM_001164690 NM_001164691 NM_020547 XM_005268792 XM_005268793
HUGO HGNC:465
OMIM 600956
CCDS CCDS53798 CCDS55829 CCDS8858
HPRD 02978
IMGT
EMBL AC068889
GenPept
RNA Seq Atlas 269