GABRG2 Chromosome 5
Gamma-aminobutyric acid type A receptor subunit gamma2
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What This Gene Does
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]
Gene Info
Gene Group
Gamma-aminobutyric acid type A receptor subunits
Locus Type
gene with protein product
Location
5q34
Ensembl
ENSG00000113327
Associated Conditions (21)
EPILEPSY
CHILDHOOD ABSENCE
SUSCEPTIBILITY TO
2
Febrile seizures
familial
8
Inborn genetic diseases
GABRG2-related disorder
Seizure
Developmental and epileptic encephalopathy
74
Intellectual disability
Charcot-Marie-Tooth disease
Self-limited epilepsy with centrotemporal spikes
Epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy
Sudden unexplained death in childhood
Generalized epilepsy with febrile seizures plus 3
Lennox-Gastaut syndrome
+1 more conditions
Key Variants
RS1025917717
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS113085352
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS115126975
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1262705178
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1369739056
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS143295869
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1445637165
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS150727562
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1554097879
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1554100507
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 74
Health Risk
RS1761390378
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1764627724
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
All Variants (152)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2532775398 | Health Risk | Pathogenic/Likely pathogenic | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO |
| RS796052505 | Health Risk | Pathogenic/Likely pathogenic | Febrile seizures, familial, 8 |