ADGRV1

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]

Description

adhesion G protein-coupled receptor V1

Protein family

Disease related genes, G-protein coupled receptors, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Peptideatlas), Transporters

Chromosome

5:q14.3 (90529344 - 91164437)

Ensembl ID

ENSG00000164199  (ver. 99.38)

Orthologs

Mouse Adgrv1: ENSMUSG00000069170

UniProt

Q8WXG9

neXtProt

NX_Q8WXG9

Human splice variants
Mouse splice variants