adhesion G protein-coupled receptor V1

Summary
Gene Symbol
  • ADGRV1
Aliases
  • DKFZp761P0710
  • FEB4
  • KIAA0686
  • VLGR1
Organism
Homo sapiens (human)
NCBI Gene
84059
HGNC
17416
PubChem
84059
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Calcium
  • Cell membrane
  • Cell projection
  • Disulfide bond
  • G-protein coupled receptor
  • Hydrolase
  • Reference proteome
  • Repeat
  • Retinitis pigmentosa
  • Signal
  • Transmembrane helix
  • Usher syndrome
  • Vision
Proteins
Displaying 1 entry
UniProt Protein Name
Q8WXG9
  • G-protein coupled receptor 98
  • Monogenic audiogenic seizure susceptibility protein 1 homolog
  • Usher syndrome type-2C protein
  • Very large G-protein coupled receptor 1
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
adhesion G-protein coupled receptor V1
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0110839 Usher syndrome type 2C
DOID:0111305 familial febrile seizures 4
The Human Phenotype Ontology
Displaying entries 1 - 10 of 56 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000359 Abnormality of the inner ear
HP:0000407 Sensorineural hearing impairment
HP:0000510 Rod-cone dystrophy
HP:0000512 Abnormal electroretinogram
HP:0000518 Cataract
HP:0000545 Myopia
HP:0000572 Visual loss
HP:0000575 Scotoma
Displaying all 4 entries
Disease ID Disease Name
ORPHA:36387
  • generalized epilepsy with febrile seizures plus
OMIM:605472
  • Usher syndrome type 2C
ORPHA:231178
  • Usher syndrome type 2
OMIM:604352
  • febrile seizures, familial, 4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025