Version 5.4
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
IDBP-36674
anti-Mullerian hormone receptor, type II
IDBP-36676
anti-Mullerian hormone receptor, type II
IDBP-592164
anti-Mullerian hormone receptor, type II
IDBP-717991
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
ENSMUSG00000023047
View Gene Order
ENSBTAG00000018524
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04350
TGF-beta signaling pathway pathway
hsa04060
Cytokine-cytokine receptor interaction pathway
INOH
INOH website
IL-7 signaling pathway
INOH website
JAK STAT pathway and regulation pathway
INOH website
EPO signaling pathway pathway
INOH website
VEGF signaling pathway pathway
INOH website
TGF-beta signaling pathway
INOH website
BMP2 signaling pathway
PID NCI
alk2pathway
ALK2 signaling events
Cross-References
SwissProt Q16671
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
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
RNA Seq Atlas 269

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca