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ADGRV1

Chr 5q14.3

adhesion G protein-coupled receptor V1

Aliases:
DKFZp761P0710, KIAA0686, FEB4, VLGR1
MANE:
ENST00000405460.9
OMIM: 602851 ↗NCBI: 84059 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Early onset or syndromic epilepsy

  • Glaucoma (developmental)

  • Intellectual disability

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Primary ciliary disorders

    Unknown

  • Rare multisystem ciliopathy disorders

  • Skeletal dysplasia

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Disease associations (Open Targets)

  • Usher syndrome type 2

    0.77

  • Usher syndrome

    0.75

  • Febrile seizure (within the age range of 3 months to 6 years)

    0.67

  • Rare genetic deafness

    0.56

  • Retinal dystrophy

    0.55

  • Usher syndrome type 2A

    0.49

  • retinitis pigmentosa

    0.46

  • idiopathic generalized epilepsy

    0.46

  • retinal disorder

    0.43

  • nonsyndromic deafness

    0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Adhesion G protein-coupled receptor V1

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 inhibiting the ubiquitination of MAG, thus enhancing the stability of this protein in myelin-forming cells of the auditory pathway. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. Involved in the regulation of bone metabolism

Diseases associated with ADGRV1

Curated MONDO disease pages that list ADGRV1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.