Identity
HGNC
LOCATION
5q34
LOCUSID
ALIAS
CAE2,DEE74,ECA2,EIEE74,FEB8,GEFSP3
FUSION GENES
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
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38357846 | 2024 | Differential inflammation responses determine the variable phenotypes of epilepsy induced by GABRG2 mutations. | 2 |
| 38357846 | 2024 | Differential inflammation responses determine the variable phenotypes of epilepsy induced by GABRG2 mutations. | 2 |
| 36979350 | 2023 | GABRG2 Variants Associated with Febrile Seizures. | 3 |
| 37703949 | 2023 | Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human. | 0 |
| 38176934 | 2023 | Association between GABRG2 Gene Single Nucleotide Polymorphisms and Susceptibility to Ischemic Stroke in a Chinese Population. | 0 |
| 36979350 | 2023 | GABRG2 Variants Associated with Febrile Seizures. | 3 |
| 37703949 | 2023 | Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human. | 0 |
| 38176934 | 2023 | Association between GABRG2 Gene Single Nucleotide Polymorphisms and Susceptibility to Ischemic Stroke in a Chinese Population. | 0 |
| 34957497 | 2022 | An epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish. | 2 |
| 35150350 | 2022 | Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study. | 2 |
| 35486215 | 2022 | Rare variants in GABRG2 associated with sleep-related hypermotor epilepsy. | 2 |
| 36425336 | 2022 | GABRG2 C588T Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort. | 2 |
| 34957497 | 2022 | An epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish. | 2 |
| 35150350 | 2022 | Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study. | 2 |
| 35486215 | 2022 | Rare 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/gabrg2-(gamma-aminobutyric-acid-type-a-receptor-subunit-gamma2)
