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

2007-02-01  

Identity

HGNC
GABRB3
LOCATION
15q12
LOCUSID
2562
ALIAS
DEE43,ECA5,EIEE43
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
376477662024Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.1
382873092024Integrated analysis identifies GABRB3 as a biomarker in prostate cancer.0
386239672024Role of β3 subunit of the GABA type A receptor in triple negative breast cancer proliferation, migration, and cell cycle progression.0
376477662024Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.1
382873092024Integrated analysis identifies GABRB3 as a biomarker in prostate cancer.0
386239672024Role of β3 subunit of the GABA type A receptor in triple negative breast cancer proliferation, migration, and cell cycle progression.0
364463822023Gabrb3 is required for the functional integration of pyramidal neuron subtypes in the somatosensory cortex.4
370193192023Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder.1
364463822023Gabrb3 is required for the functional integration of pyramidal neuron subtypes in the somatosensory cortex.4
370193192023Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder.1
346989332022GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.6
349064992022Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.10
353831562022Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.25
355625222022GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.3
346989332022GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.6

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