GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4)

2014-11-01 Affiliation

Identity

HGNC

GABRA4

LOCATION

4p12

LOCUSID

2557

ALIAS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2557
MIM: 137141
HGNC: 4078
Ensembl: ENSG00000109158

Variants:

dbSNP: 2557
ClinVar: 2557
TCGA: ENSG00000109158
COSMIC: GABRA4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000109158	ENST00000264318	P48169
ENSG00000109158	ENST00000264318	X5D7F5
ENSG00000109158	ENST00000502874	D6RB66
ENSG00000109158	ENST00000508560	D6R924
ENSG00000109158	ENST00000511523	D6R924

Expression (GTEx)

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

Pathway	Source	External ID
Neuroactive ligand-receptor interaction	KEGG	ko04080
Taste transduction	KEGG	ko04742
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Taste transduction	KEGG	hsa04742
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Morphine addiction	KEGG	hsa05032
Morphine addiction	KEGG	ko05032
Nicotine addiction	KEGG	hsa05033
Nicotine addiction	KEGG	ko05033
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
GABA receptor activation	REACTOME	R-HSA-977443
GABA A receptor activation	REACTOME	R-HSA-977441
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Ligand-gated ion channel transport	REACTOME	R-HSA-975298

References

Pubmed ID	Year	Title	Citations
35152403	2022	A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.	7
35152403	2022	A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.	7
32028044	2020	Further evidence of GABRA4 and TOP3B as autism susceptibility genes.	10
32028044	2020	Further evidence of GABRA4 and TOP3B as autism susceptibility genes.	10
31690811	2019	Steady-state activation of the high-affinity isoform of the α4β2δ GABA(A) receptor.	7
31690811	2019	Steady-state activation of the high-affinity isoform of the α4β2δ GABA(A) receptor.	7
29135068	2018	Contribution of genes in the GABAergic pathway to bipolar disorder and its executive function deficit in the Chinese Han population.	1
29151244	2018	Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.	3
29299688	2018	Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.	6
29720720	2018	Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.	10
29135068	2018	Contribution of genes in the GABAergic pathway to bipolar disorder and its executive function deficit in the Chinese Han population.	1
29151244	2018	Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.	3
29299688	2018	Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.	6
29720720	2018	Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.	10
26239769	2015	Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD).	8

Citation

Dessen P

GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63648