Entity Details

Primary name ADGRV1
Entity type gene
Source Source Link

Details

PrimaryID84059
RefseqGeneNG_007083
SymbolADGRV1
Nameadhesion G protein-coupled receptor V1
Chromosome5
Location5q14.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAGRV1_HUMAN

GO terms

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GOName
GO:0001917 photoreceptor inner segment
GO:0001965 G-protein alpha-subunit binding
GO:0002141 stereocilia ankle link
GO:0002142 stereocilia ankle link complex
GO:0004930 G protein-coupled receptor activity
GO:0005509 calcium ion binding
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007194 negative regulation of adenylate cyclase activity
GO:0007399 nervous system development
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0009986 cell surface
GO:0010739 positive regulation of protein kinase A signaling
GO:0010855 adenylate cyclase inhibitor activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016787 hydrolase activity
GO:0030501 positive regulation of bone mineralization
GO:0031647 regulation of protein stability
GO:0043235 receptor complex
GO:0045184 establishment of protein localization
GO:0045202 synapse
GO:0045494 photoreceptor cell maintenance
GO:0048496 maintenance of animal organ identity
GO:0048839 inner ear development
GO:0050877 nervous system process
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0050953 sensory perception of light stimulus
GO:0060122 inner ear receptor cell stereocilium organization
GO:0060171 stereocilium membrane
GO:0070062 extracellular exosome
GO:0071277 cellular response to calcium ion
GO:0090037 positive regulation of protein kinase C signaling
GO:0097264 self proteolysis
GO:0098609 cell-cell adhesion
GO:1990075 periciliary membrane compartment
GO:1990696 USH2 complex

Diseases

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Disease IDSourceNameDescription
605472 OMIMUsher syndrome 2C (USH2C)USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. The disease is caused by variants affecting the gene represented in this entry.
604352 OMIMFebrile seizures, familial, 4 (FEB4)Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. The disease may be caused by variants affecting the gene represented in this entry.