GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2)

2016-10-01  

Identity

HGNC
LOCATION
4p12
LOCUSID
ALIAS
DEE78,EIEE78
FUSION GENES

Other Information

Locus ID:

NCBI: 2555
MIM: 137140
HGNC: 4076
Ensembl: ENSG00000151834

Variants:

dbSNP: 2555
ClinVar: 2555
TCGA: ENSG00000151834
COSMIC: GABRA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151834ENST00000356504P47869
ENSG00000151834ENST00000356504A0A024R9X6
ENSG00000151834ENST00000381620P47869
ENSG00000151834ENST00000381620A0A024R9X6
ENSG00000151834ENST00000503806D6RB77
ENSG00000151834ENST00000506961D6RBL7
ENSG00000151834ENST00000507069E9PBQ7
ENSG00000151834ENST00000507460D6RAA9
ENSG00000151834ENST00000510233D6RBK9
ENSG00000151834ENST00000510861P47869
ENSG00000151834ENST00000510861A0A024R9X6
ENSG00000151834ENST00000513005D6RCS5
ENSG00000151834ENST00000514090P47869
ENSG00000151834ENST00000514090A0A024R9X6
ENSG00000151834ENST00000514193D6RCS5
ENSG00000151834ENST00000514236H0Y9V8
ENSG00000151834ENST00000515082G5E9Z6
ENSG00000151834ENST00000540012A0A0A0MTM5
ENSG00000151834ENST00000630416D6RCS5

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Taste transductionKEGGko04742
Neuroactive ligand-receptor interactionKEGGhsa04080
Taste transductionKEGGhsa04742
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
GABA receptor activationREACTOMER-HSA-977443
GABA A receptor activationREACTOMER-HSA-977441
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ligand-gated ion channel transportREACTOMER-HSA-975298

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446878Cocaine-Related DisordersDiseaseClinicalAnnotationassociatedPD
PA449072cocaineChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
364699772023Novel variants in GABA(A) receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy.2
364699772023Novel variants in GABA(A) receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy.2
364221922022Prospective DNA Methylation Analysis of the CpG GABRA2 Receptor Subunit in Alcohol Dependence during Detoxification.0
364221922022Prospective DNA Methylation Analysis of the CpG GABRA2 Receptor Subunit in Alcohol Dependence during Detoxification.0
331288452021Longitudinal Links between Adolescent and Peer Conduct Problems and Moderation by a Sensitivity Genetic Index.1
340860812021Gabra2 is a genetic modifier of Dravet syndrome in mice.12
331288452021Longitudinal Links between Adolescent and Peer Conduct Problems and Moderation by a Sensitivity Genetic Index.1
340860812021Gabra2 is a genetic modifier of Dravet syndrome in mice.12
323760742020Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia.5
324462462020FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome.6
331404512020Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse.14
323760742020Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia.5
324462462020FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome.6
331404512020Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse.14
317903482019Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior.0

Citation

Dessen P

GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56060/gabra2-(gamma-aminobutyric-acid-type-a-receptor-subunit-alpha2)