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Gene: GABRG2 (gamma-aminobutyric acid type A receptor gamma2 subunit) Homo sapiens
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Symbol: GABRG2
Name: gamma-aminobutyric acid type A receptor gamma2 subunit
Description: This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAE2; ECA2; EIEE74; FEB8; GABA(A) receptor subunit gamma-2; GABA(A) receptor, gamma 2; gamma-aminobutyric acid (GABA) A receptor, gamma 2; gamma-aminobutyric acid receptor subunit gamma-2; GEFSP3
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385162,067,642 - 162,155,539 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375161,494,648 - 161,582,545 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365161,427,295 - 161,515,106 (+)NCBINCBI36hg18NCBI36
Build 345161,427,294 - 161,515,106NCBI
Celera5157,525,645 - 157,613,546 (+)NCBI
Cytogenetic Map5q34NCBI
HuRef5156,587,110 - 156,675,113 (+)NCBIHuRef
CHM1_15160,927,088 - 161,014,986 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on GABRG2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1344590
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-09-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.