GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2)

2016-10-01 Affiliation

Identity

HGNC

GABRG2

LOCATION

5q34

LOCUSID

2566

ALIAS

CAE2,DEE74,ECA2,EIEE74,FEB8,GEFSP3

FUSION GENES

Show Gene Fusions

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: 2566
MIM: 137164
HGNC: 4087
Ensembl: ENSG00000113327

Variants:

dbSNP: 2566
ClinVar: 2566
TCGA: ENSG00000113327
COSMIC: GABRG2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000113327	ENST00000356592	A0A1X7SBS5
ENSG00000113327	ENST00000361925	A0A1X7SBZ8
ENSG00000113327	ENST00000414552	P18507
ENSG00000113327	ENST00000522990	E5RIG3
ENSG00000113327	ENST00000523372	E5RGJ0
ENSG00000113327	ENST00000638552	A8MWU7
ENSG00000113327	ENST00000638660	A0A1W2PSF4
ENSG00000113327	ENST00000638772	A0A1W2PPS4
ENSG00000113327	ENST00000638877	A0A1W2PQA6
ENSG00000113327	ENST00000639046	A0A1W2PRU1
ENSG00000113327	ENST00000639111	P18507
ENSG00000113327	ENST00000639213	P18507
ENSG00000113327	ENST00000639278	A0A1W2PQX1
ENSG00000113327	ENST00000639384	A0A1W2PPN5
ENSG00000113327	ENST00000639424	A0A1W2PP56
ENSG00000113327	ENST00000639683	A0A1W2PRN4
ENSG00000113327	ENST00000639975	A0A1W2PR49
ENSG00000113327	ENST00000640574	A0A1W2PQ81
ENSG00000113327	ENST00000640757	A0A1W2PRM8
ENSG00000113327	ENST00000640910	A0A1W2PRY3
ENSG00000113327	ENST00000640985	A0A1W2PQR9
ENSG00000113327	ENST00000641017	A0A286YFI6

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
Neuroactive ligand-receptor interaction	KEGG	hsa04080
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
11748509	2002	Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.	96
19874574	2009	Genetical genomic determinants of alcohol consumption in rats and humans.	93
12117362	2002	A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.	66
12117362	2002	A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.	66
15016806	2004	Gating allosterism at a single class of etomidate sites on alpha1beta2gamma2L GABA A receptors accounts for both direct activation and agonist modulation.	62
15470132	2004	The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.	54
19650112	2009	Decreased GABAA receptors and benzodiazepine binding sites in the anterior cingulate cortex in autism.	51
16172613	2005	Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.	48
19078961	2010	Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.	47
29950725	2018	Structure of a human synaptic GABA<sub>A</sub> receptor.	44

Citation

Dessen P

GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56154/gabrg2