GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3)

2007-02-01  

Identity

HGNC
LOCATION
15q12
LOCUSID
ALIAS
DEE43,ECA5,EIEE43
FUSION GENES

Other Information

Locus ID:

NCBI: 2562
MIM: 137192
HGNC: 4083
Ensembl: ENSG00000166206

Variants:

dbSNP: 2562
ClinVar: 2562
TCGA: ENSG00000166206
COSMIC: GABRB3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166206ENST00000299267P28472
ENSG00000166206ENST00000299267X5DQY4
ENSG00000166206ENST00000311550P28472
ENSG00000166206ENST00000400188P28472
ENSG00000166206ENST00000541819F5H7N0
ENSG00000166206ENST00000545868P28472
ENSG00000166206ENST00000554556G3V373
ENSG00000166206ENST00000555632G3V4W7
ENSG00000166206ENST00000556636H0YJU6
ENSG00000166206ENST00000622697P28472
ENSG00000166206ENST00000628124P28472
ENSG00000166206ENST00000635994A0A1B0GU30
ENSG00000166206ENST00000636466P28472
ENSG00000166206ENST00000638099A0A1B0GVW3

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Serotonergic synapseKEGGhsa04726
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

References

Pubmed IDYearTitleCitations
174712872008Alterations in GABA-related transcriptome in the dorsolateral prefrontal cortex of subjects with schizophrenia.214
188210082009GABA(A) receptor downregulation in brains of subjects with autism.157
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
156157692005Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.134
160801142005Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.107
119201582002Association between a GABRB3 polymorphism and autism.93
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
17339270200715q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.86
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62

Citation

Dessen P

GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46123/gabrb3