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 |
|---|---|---|---|---|---|
| anti-Mullerian hormone receptor type 2 | MIM:600956 | Ensembl:ENSG00000135409 | HGNC:HGNC:465 | PA24770 | 12q13.13 |
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 |
| BP | IBA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IEA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IBA | GO:0007389 | pattern specification process |
| BP | IBA | GO:0007548 | sex differentiation |
| BP | ISS | GO:0007548 | sex differentiation |
| BP | TAS | GO:0007548 | sex differentiation |
| BP | IEA | GO:0008584 | male gonad development |
| BP | IEA | GO:0008585 | female gonad development |
| BP | TAS | GO:0030509 | BMP signaling pathway |
| BP | IEA | GO:1902613 | negative regulation of anti-Mullerian hormone signaling pathway |
| BP | IMP | GO:1990262 | anti-Mullerian hormone signaling pathway |
| MF | IBA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IBA | GO:0005026 | transforming growth factor beta receptor activity, type II |
| MF | IEA | GO:0005026 | transforming growth factor beta receptor activity, type II |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | IPI | GO:0042562 | hormone binding |
| MF | IBA | GO:0046332 | SMAD binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0098821 | BMP receptor activity |
| MF | IBA | GO:1990272 | anti-Mullerian hormone receptor activity |
| MF | IMP | GO:1990272 | anti-Mullerian hormone receptor activity |
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
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD399 | Selumetinib | 2 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD100 | Zebularine | 4 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD506 | Fedratinib | 2 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD524 | ISX-9 | 3 |
| iGMDRD630 | ML203 | 3 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD23 | Gossypol | 2 |
| iGMDRD356 | PNU-74654 | 1 |
| iGMDRD270 | Ciclosporin | 3 |
| iGMDRD247 | Blebbistatin | 3 |
| iGMDRD260 | FQI-2 | 1 |
| iGMDRD802 | 4-methylfasudil | 1 |
| iGMDRD294 | Batimastat | 1 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD61 | Kinetin riboside | 7 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD210 | AC55649 | 1 |
| iGMDRD554 | CHEMBL1434137 | 2 |
| iGMDRD151 | CHM-1 | 2 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD1008 | SR-II-138A | 2 |
| iGMDRD387 | CHIR-99021 | 1 |
| iGMDRD670 | ML 210 | 1 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD546 | BMS-754807 | 2 |
| iGMDRD414 | MST-312 | 2 |
| iGMDRD662 | JQ-1 | 2 |
| iGMDRD329 | Merck60 | 2 |
| iGMDRD246 | NPC26 | 2 |
| iGMDRD505 | Pevonedistat | 6 |
| iGMDRD300 | Tozasertib | 2 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD5 | Tyrphostin AG 1478 | 2 |
| iGMDRD192 | CIL56 | 3 |
| iGMDRD221 | Tamoxifen | 1 |
| iGMDRD231 | Importazole | 2 |
| iGMDRD85 | Ursolic acid | 2 |
| iGMDRD351 | GW843682X | 1 |
| iGMDRD84 | Lovastatin acid | 2 |
| iGMDRD116 | CD437 | 1 |
| iGMDRD150 | RITA | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AMHR2
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