Homo sapiens Protein: AMHR2
Summary
InnateDB Protein IDBP-36674.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMHR2
Protein Name anti-Mullerian hormone receptor, type II
Synonyms AMHR; MISR2; MISRII; MRII;
Species Homo sapiens
Ensembl Protein ENSP00000257863
InnateDB Gene IDBG-36672 (AMHR2)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Membrane; Single-pass type I membrane protein.
Disease Associations Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]: A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. {ECO:0000269PubMed:11549681, ECO:0000269PubMed:8872466}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR000472 TGF-beta receptor/activin receptor, type I/II
IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR011009 Protein kinase-like domain
IPR015771 Anti-muellerian hormone receptor, type II
IPR020635 Tyrosine-protein kinase, catalytic domain
PFAM PF01064
PF00069
PF07714
PRINTS PR00109
PIRSF PIRSF037392
SMART SM00220
SM00219
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q16671
PhosphoSite PhosphoSite-Q16671
TrEMBL H3BPI9
UniProt Splice Variant
Entrez Gene 269
UniGene Hs.659889
RefSeq NP_065434
HUGO HGNC:465
OMIM 600956
CCDS CCDS8858
HPRD 02978
IMGT
EMBL AC068889 AF172932 AK313593 AY714878 BC126316 BC136356 U29700 X89013 X91156 X91157 X91158 X91159 X91160 X91161 X91162 X91163 X91164 X91165 X91166
GenPept AAC50328 AAD48497 AAI26317 AAI36357 AAU21221 CAA61418 CAA62593