GABRA6 (gamma-aminobutyric acid type A receptor subunit alpha6)

2014-11-01  

Identity

HGNC
LOCATION
5q34
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 2559
MIM: 137143
HGNC: 4080
Ensembl: ENSG00000145863

Variants:

dbSNP: 2559
ClinVar: 2559
TCGA: ENSG00000145863
COSMIC: GABRA6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145863ENST00000274545Q16445
ENSG00000145863ENST00000517823H0YBS7
ENSG00000145863ENST00000520000H0YBP3
ENSG00000145863ENST00000523217E7EV53
ENSG00000145863ENST00000523691H0YAS3

Expression (GTEx)

0
50
100
150
200
250
300
350

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713257Selective serotonin reuptake inhibitorsChemicalClinicalAnnotationassociatedPD23394390
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD23394390
PA451866venlafaxineChemicalClinicalAnnotationassociatedPD23394390
PA452229antidepressantsChemicalClinicalAnnotationassociatedPD23394390

References

Pubmed IDYearTitleCitations
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
201006212010Prefrontal GABA(A) receptor alpha-subunit expression in normal postnatal human development and schizophrenia.79
161726132005Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.48
210416082011Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.48
190789612010Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.47
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
151973992004GABRA6 gene polymorphism and an attenuated stress response.30
151973992004GABRA6 gene polymorphism and an attenuated stress response.30
155426982004Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians.30

Citation

Dessen P

GABRA6 (gamma-aminobutyric acid type A receptor subunit alpha6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63650/gabra6