ADGRV1

adhesion G protein-coupled receptor V1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000164199
UniProt:: Q8WXG9
OMIM:: 602851
Synonyms:: DKFZP761P0710, FEB4, GPR98, KIAA0686, MASS1, USH2C, VLGR1

Cilia effects upon perturbation of ADGRV1

Cilia number / % ciliated:: Decreased cilia number
Loss-of-function effect:: Shorter cilia

Ciliogenesis screen results (1 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: decreased prepulse inhibition, abnormal startle reflex, hyperactivity, decreased startle reflex

Ciliopathy associations

Usher Syndrome

References: PMID:35076463, PMID:35353227, PMID:30531642, PMID:39016003, PMID:14740321

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:40103630

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Signaling (Hedgehog, GPCRs, ion channels)

Function

GPR98. USH2C (OMIM :602851). Mutation causes Usher syndrome type IIC.

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