GeneID: 315



Names

Common Name: ADGRV1 Type: Gene
Chromosome: 5 (NC_000005.10) Locus: NG_007083.2 (ADGRV1)
HUGO Symbol: ADGRV1 Full Name: adhesion G protein-coupled receptor V1
Exons: 90 Introns: 89

Description:
This gene encodes a member of the G-protein coupled, 7-transmembrane receptor (GPCR) superfamily. The adhesion family of GPCRs (aGPCRs) is unique among all GPCR families with long N-termini and multiple domains that are implicated in cell-cell and cell-matrix interactions. The encoded protein is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Genetic variance in ADGRV1 gene associated with episodes of pain in patients with sickle cell disease.

Synonyms: FEB4 , GPR98 , MASS1 , USH2B , USH2C , VLGR1 , VLGR1b

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
  2. Langenhan T, Piao X, Monk KR, Adhesion G protein-coupled receptors in nervous system development and disease., Nat. Rev. Neurosci., 17(9), 550-61, 2016 PubMed
  3. Krishnan A, Nijmeijer S, de Graaf C, Schiöth HB, Classification, Nomenclature, and Structural Aspects of Adhesion GPCRs., Handb Exp Pharmacol, 234(0), 15-41, 2016 PubMed
Created on 2019-11-27 09:34:24, Last reviewed on (Show full history)


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