AMHR2
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600956 Ensembl IDEnsembl:ENSG00000135409 HGNC IDHGNC:HGNC:465 PHARMGKB IDPA24770 Map Location12q13.13 | |||||
GO terms in AMHR2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IEA | GO:0005887 | integral component of plasma membrane |
| CC | IBA | GO:0043235 | receptor complex |
| BP | NAS | GO:0001880 | Mullerian duct regression |
| BP | IEA | GO:0006468 | protein phosphorylation |
Gene expression in normal tissue: AMHR2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AMHR2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-201451 | Signaling by BMP |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| pid | alk2pathway | ALK2 signaling events |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AMHR2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.