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

2016-10-01  

Identity

HGNC
GABRG2
LOCATION
5q34
LOCUSID
2566
ALIAS
CAE2,DEE74,ECA2,EIEE74,FEB8,GEFSP3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2566
MIM: 137164
HGNC: 4087
Ensembl: ENSG00000113327

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113327ENST00000356592A0A1X7SBS5
ENSG00000113327ENST00000361925A0A1X7SBZ8
ENSG00000113327ENST00000414552P18507
ENSG00000113327ENST00000522990E5RIG3
ENSG00000113327ENST00000523372E5RGJ0
ENSG00000113327ENST00000638552A8MWU7
ENSG00000113327ENST00000638660A0A1W2PSF4
ENSG00000113327ENST00000638772A0A1W2PPS4
ENSG00000113327ENST00000638877A0A1W2PQA6
ENSG00000113327ENST00000639046A0A1W2PRU1
ENSG00000113327ENST00000639111P18507
ENSG00000113327ENST00000639213P18507
ENSG00000113327ENST00000639278A0A1W2PQX1
ENSG00000113327ENST00000639384A0A1W2PPN5
ENSG00000113327ENST00000639424A0A1W2PP56
ENSG00000113327ENST00000639683A0A1W2PRN4
ENSG00000113327ENST00000639975A0A1W2PR49
ENSG00000113327ENST00000640574A0A1W2PQ81
ENSG00000113327ENST00000640757A0A1W2PRM8
ENSG00000113327ENST00000640910A0A1W2PRY3
ENSG00000113327ENST00000640985A0A1W2PQR9
ENSG00000113327ENST00000641017A0A286YFI6

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
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
383578462024Differential inflammation responses determine the variable phenotypes of epilepsy induced by GABRG2 mutations.2
383578462024Differential inflammation responses determine the variable phenotypes of epilepsy induced by GABRG2 mutations.2
369793502023GABRG2 Variants Associated with Febrile Seizures.3
377039492023Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.0
381769342023Association between GABRG2 Gene Single Nucleotide Polymorphisms and Susceptibility to Ischemic Stroke in a Chinese Population.0
369793502023GABRG2 Variants Associated with Febrile Seizures.3
377039492023Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.0
381769342023Association between GABRG2 Gene Single Nucleotide Polymorphisms and Susceptibility to Ischemic Stroke in a Chinese Population.0
349574972022An epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish.2
351503502022Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.2
354862152022Rare variants in GABRG2 associated with sleep-related hypermotor epilepsy.2
364253362022GABRG2 C588T Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort.2
349574972022An epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish.2
351503502022Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.2
354862152022Rare variants in GABRG2 associated with sleep-related hypermotor epilepsy.2

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/case-report-explorer/teaching-explorer/js/lib/zoomerang.js