• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ADGRV1 (HGNC:17416) HGNC Entrez Ensembl OMIM Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
adhesion G protein-coupled receptor V1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
USH2C, MASS1, GPR98
Alias symbols
DKFZp761P0710, KIAA0686, FEB4, VLGR1
%HI
25.58(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.52(Read more about gnomAD LOEUF score)
Cytoband
5q14.3
Genomic Coordinates
GRCh37/hg19: chr5:89854614-90460254 NCBI Ensembl UCSC
GRCh38/hg38: chr5:90558797-91164437 NCBI Ensembl UCSC
MANE Select Transcript
NM_032119.4 ENST00000405460.9 (Read more about MANE Select)
Function
G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inh... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10384
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/23/2021

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variants in ADGRV1 have been reported in association with Usher syndrome type 2C, an autosomal recessive condition. Furthermore, the overall evidence that ADGRV1, when altered, causes Usher syndrome 2 has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE in February 2017.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)