| Entrez Gene ID | 2566 |
|---|---|
| Official Gene Symbol | GABRG2 (GeneCards) |
| Full name | gamma-aminobutyric acid type A receptor gamma2 subunit |
| Location | 5q34 |
| Other ids | Vega : OTTHUMG00000130350 MIM : 137164 HGNC : HGNC:4087 Ensembl : ENSG00000113327 |
| Other names | CAE2, ECA2, GEFSP3 |
| Summary | This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
Found 18 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 999 | 2566 | GABRG2 | 5 | 161522518 | 161522518 | Human Skin Fibroblasts | HiSeq 2500 |
| 7798 | 2566 | GABRG2 | 5 | 162213280 | 162213280 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 7818 | 2566 | GABRG2 | 5 | 162189814 | 162189814 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 7936 | 2566 | GABRG2 | 5 | 161785450 | 161785450 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 8003 | 2566 | GABRG2 | 5 | 162527750 | 162527750 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 8028 | 2566 | GABRG2 | 5 | 162647440 | 162647440 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 8146 | 2566 | GABRG2 | 5 | 162765048 | 162765048 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 8379 | 2566 | GABRG2 | 5 | 162513812 | 162513812 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 8863 | 2566 | GABRG2 | 5 | 161775141 | 161775141 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten |
| 8895 | 2566 | GABRG2 | 5 | 162273137 | 162273137 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten |
| 22987 | 2566 | GABRG2 | 5 | 161635847 | 161635847 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 23061 | 2566 | GABRG2 | 5 | 161934162 | 161934162 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 23070 | 2566 | GABRG2 | 5 | 162341536 | 162341536 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25818 | 2566 | GABRG2 | 5 | 161975411 | 161975411 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 26016 | 2566 | GABRG2 | 5 | 161604911 | 161604911 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 29264 | 2566 | GABRG2 | 5 | 161522685 | 161522685 | Autism Spectrum Disorders | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning PASM |
| 29778 | 2566 | GABRG2 | 5 | 161524765 | 161524765 | Autism Spectrum Disorders | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning PASM NextSeq500 |
| 30205 | 2566 | GABRG2 | 5 | 161522522 | 161522522 | Febrile Seizures | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning PASM NextSeq500 Raindance Emulsion PCR |