ADGRV1
Chr 5ADARDigenic dominantadhesion G protein-coupled receptor V1
The protein is a G-protein coupled receptor essential for hearing and vision development that regulates cAMP signaling, hair bundle formation in cochlear cells, and photoreceptor function. Mutations cause Usher syndrome type 2C (progressive hearing loss and retinitis pigmentosa) and familial febrile seizures, with inheritance patterns including autosomal recessive, autosomal dominant, and digenic forms. The gene is not highly constrained against loss-of-function variants and affects multiple systems including auditory, visual, and neurological function.
Disputed — evidence questions this relationship
2 total gene-disease associations curated
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADGRV1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools