Gene
ADGRV1
adhesion G protein-coupled receptor V1
- HGNC 17416↗(opens in a new tab)
- Ensembl gene ENSG00000164199↗(opens in a new tab)
- NCBI Gene 84059↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q14.3
- Coordinates
- Chromosome 5: 90,558,797–91,164,437 (GRCh38)
- Exons
- 90 exons across 605.6 kb
- Protein
- 6,306 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- DKFZp761P0710, KIAA0686, FEB4, VLGR1
- Previous symbols
- USH2C, MASS1, GPR98
- MANE Select transcript
- ENST00000405460.9NM_032119.4
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Usher Syndrome
- Autosomal recessive
A group of recessive conditions (types 1 to 4) causing sensorineural hearing loss, progressive retinitis pigmentosa and, in some types, balance problems, linked to genes such as USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 and ARSG.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
An early diagnosis helps with decisions about the timing of cochlear implants, eye monitoring and eligibility for retinal therapy trials, and is relevant to carrier screening.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How ADGRV1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 19.6 kb of the gene's 605.6 kb; 18,921 of those bases code for the protein.
How a genome test reads ADGRV1
160
positions in ADGRV1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 605.6 kb of ADGRV1, introns included, not only the 19.6 kb of exons.
Genes linked to the same conditions
- ARSGarylsulfatase GShares 1 condition
- CDH23cadherin related 23Shares 1 condition
- CLRN1clarin 1Shares 1 condition
- HARS1histidyl-tRNA synthetase 1Shares 1 condition
- MYO7Amyosin VIIAShares 1 condition
- PCDH15protocadherin related 15Shares 1 condition
- USH1CUSH1 protein network component harmoninShares 1 condition
- USH1GUSH1 protein network component sansShares 1 condition
- USH2AusherinShares 1 condition
- WHRNwhirlinShares 1 condition
Traits linked to ADGRV1
The Human Phenotype Ontology lists these as features of the rare conditions ADGRV1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Generalized-onset seizure
- Brief seizures with staring spells
- Difficulty sleeping
- Febrile seizure (within the age range of 3 months to 6 years)
- Abnormality of balance
- Anxiety
- Ataxia
- Atypical absence status epilepticus
Show 19 more traits
- Cognitive impairment
- Cortical dysplasia
- Depression
- EEG with spike-wave complexes
- Generalized cerebral degeneration/underdevelopment
- Generalized myoclonic seizure
- Grand mal seizures
- Incoordination
- Loss of developmental milestones
- Poor fine motor coordination
- Sudden loss of muscle tone
- Autism spectrum disorder
- Focal impaired awareness seizure
- Obsessive-compulsive trait
- Repeated seizures without recovery between them
- Seizure affecting one half of brain
- Slow movements
- Tremor
- Generalized tonic seizure
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ADGRV1 gene: adhesion G protein-coupled receptor V1. Retrieved 17 October 2026, from https://dantelabs.com/genes/adgrv1
Dante Labs. ADGRV1 gene: adhesion G protein-coupled receptor V1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/adgrv1
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