ADGRV1 |
- 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:
- Usher Syndrome Type 2 Monarch
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)