ADGRV1 gene

adhesion G protein-coupled receptor V1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]

From UniProt:

Receptor that may have an important role in the development of the central nervous system.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Febrile seizures, familial, 4
  • Usher syndrome, type 2C

From UniProt:

Febrile 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. [MIM:604352]

Usher 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. [MIM:605472]

Cytogenetic Location: 5q14.3, which is the long (q) arm of chromosome 5 at position 14.3

Molecular Location: base pairs 90,558,681 to 91,164,226 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q14.3, which is the long (q) arm of chromosome 5 at position 14.3
  • FEB4
  • GPR98
  • MASS1
  • USH2B
  • USH2C
  • VLGR1
  • VLGR1b