Gamma-Aminobutyric Acid Receptor, Alpha-2

Alternative Names

  • GABRA2
  • GABA-A Receptor, Alpha-2 Polypeptide
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OMIM Number

137140

NCBI Gene ID

2555

Uniprot ID

P47869

Length

146,753 bases

No. of Exons

14

No. of isoforms

2

Protein Name

Gamma-aminobutyric acid receptor subunit alpha-2

Molecular Mass

51326 Da

Amino Acid Count

451

Genomic Location

chr4:46,243,547-46,390,299

Gene Map Locus
4p12

Description

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000807.4:c.256-3190G>TArab; United Arab Emir...NC_000004.12:g.46315906C>ANG_012835.2:g.79134G>T; NM_000807.4:c.256-3190G>T; NP_000798.2:p.?279856
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