ADGRV1
Summary: This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| adhesion G protein-coupled receptor V1 | MIM:602851 | Ensembl:ENSG00000164199 | HGNC:HGNC:17416 | PA134960779 | 5q14.3 |
GO terms in ADGRV1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | NAS | GO:0004930 | G-protein coupled receptor activity |
| MF | IDA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| BP | IEA | GO:0007166 | cell surface receptor signaling pathway |
| BP | IEA | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | NAS | GO:0007399 | nervous system development |
| BP | IEA | GO:0007601 | visual perception |
| BP | IMP | GO:0007605 | sensory perception of sound |
| BP | IMP | GO:0045494 | photoreceptor cell maintenance |
| BP | IMP | GO:0048496 | maintenance of animal organ identity |
| BP | IMP | GO:0050877 | nervous system process |
| BP | IMP | GO:0050953 | sensory perception of light stimulus |
| BP | NAS | GO:0098609 | cell-cell adhesion |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0009986 | cell surface |
| CC | NAS | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0032420 | stereocilium |
| CC | IDA | GO:0043235 | receptor complex |
| CC | IEA | GO:0045202 | synapse |
| CC | HDA | GO:0070062 | extracellular exosome |
Gene expression in normal tissue: ADGRV1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD748 | PHA-665752 | 1 |
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ADGRV1
CLASSFICATION
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