GABRG3 (gamma-aminobutyric acid type A receptor subunit gamma3)

2014-11-01  

Identity

HGNC
LOCATION
15q12
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 2567
MIM: 600233
HGNC: 4088
Ensembl: ENSG00000182256

Variants:

dbSNP: 2567
ClinVar: 2567
TCGA: ENSG00000182256
COSMIC: GABRG3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182256ENST00000333743A0A0A0MR73
ENSG00000182256ENST00000451330H7BZQ0
ENSG00000182256ENST00000554696H0YJP1
ENSG00000182256ENST00000555083Q99928
ENSG00000182256ENST00000557596H0YJ81
ENSG00000182256ENST00000615808Q99928

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
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
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD21808285
PA452233antipsychoticsChemicalClinicalAnnotationassociatedPD21808285

References

Pubmed IDYearTitleCitations
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
160801142005Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.107
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190789612010Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.47
147452962004Association of GABRG3 with alcohol dependence.46
197270252009Genome-wide association study of exercise behavior in Dutch and American adults.35
197270252009Genome-wide association study of exercise behavior in Dutch and American adults.35
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

Citation

Dessen P

GABRG3 (gamma-aminobutyric acid type A receptor subunit gamma3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63656/gabrg3