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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:602851 Ensembl IDEnsembl:ENSG00000164199 HGNC IDHGNC:HGNC:17416 PHARMGKB IDPA134960779 Map Location5q14.3 | |||||
GO terms in ADGRV1
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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 |
Gene expression in normal tissue: ADGRV1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ADGRV1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP117 | GPCRs, Other |
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Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ADGRV1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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