| Connectivity | 6 |
|---|---|
| Notes | Gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain, mediates neuronal inhibition by binding to GABA receptors. The type A GABA receptors are pentameric chloride channels assembled from among many genetic variants of GABA(A) subunits. This gene encodes the gamma 2 subunit of GABA(A) receptor. Mutations in this gene have been associated with epilepsy and febrile seizures. Alternative splicing of this gene results in transcript variants encoding different isoforms. |
| Hugo ID | 4087 |
| Name | GABRG2 |
| Description | gamma-aminobutyric acid (GABA) A receptor, gamma 2 |
| URN | urn:agi-llid:2566 |
| GO Cellular Component | integral to membrane |
|---|---|
| integral to plasma membrane | |
| membrane | |
| postsynaptic membrane |
| Cell Localization | Plasma membrane |
|---|---|
| Cytoplasm |
| GO Biological Process | chloride transport |
|---|---|
| gamma-aminobutyric acid signaling pathway | |
| ion transport | |
| synaptic transmission | |
| transport | |
| regulation of synapse |
| Microarray ID | L08497cds_at |
|---|---|
| 93163_at | |
| 1418177_at | |
| 129572_f_at | |
| 138346_at | |
| 166127_f_at | |
| 169450_f_at | |
| 1437147_at | |
| m62374_s_at | |
| Msa.671.0_at | |
| A_51_P202084 | |
| NM_008073 | |
| A_65_P04618 | |
| L0816H01-3 | |
| X15376 | |
| 36762_at | |
| 206849_at | |
| 84886_at | |
| X15376_at | |
| A_23_P410482 | |
| NM_000816.1 | |
| A_23_P213920 | |
| I_958506 |
| State | gamma-aminobutyric acid A receptor, gamma 2 isoform 2 precursor |
|---|---|
| gamma-aminobutyric acid A receptor, gamma 2 isoform 3 | |
| gamma-aminobutyric acid A receptor, gamma 2 isoform 1 precursor |
| State Description | Transcript Variant: This variant (2) is missing a small coding exon at the 3' end compared to transcript variant 1. The reading frame however remains the same, resulting in an isoform (2) lacking an internal 8 aa segment compared to isoform 1. |
|---|---|
| Transcript Variant: This variant (3) uses a different acceptor splice site at the 3rd exon, and is missing a small coding exon at the 3' end compared to transcript variant 1. This results in translation initiation from a downstream AUG and a shorter is... | |
| Transcript Variant: This variant (1) encodes the longest isoform (1). |
| MGI ID | 95623 |
|---|
| GO Molecular Function | extracellular ligand-gated ion channel activity |
|---|---|
| ion channel activity | |
| GABA-A receptor activity | |
| protein binding | |
| receptor activity | |
| neurotransmitter receptor activity | |
| benzodiazepine receptor activity |
| GO ID | GO:0005230 |
|---|---|
| GO:0005216 | |
| GO:0004890 | |
| GO:0005515 | |
| GO:0004872 | |
| GO:0030594 | |
| GO:0006821 | |
| GO:0007214 | |
| GO:0007273 | |
| GO:0006810 | |
| GO:0006811 | |
| GO:0007268 | |
| GO:0016020 | |
| GO:0016021 | |
| GO:0005887 | |
| GO:0008503 |
| Swiss-Prot Accession | P18507 |
|---|
| OMIM ID | OMIM:137164 |
|---|---|
| OMIM:607681 | |
| OMIM:604233 | |
| OMIM:607208 |
| Alias | Gabrg2 |
|---|---|
| gamma-aminobutyric acid A receptor, gamma 2 | |
| gamma2 | |
| Gabrg-2 | |
| AI851231 | |
| gamma-aminobutyric acid (GABA-A) receptor, subunit gamma 2 | |
| ECA2 | |
| GEFSP3 | |
| gamma-aminobutyric acid (GABA) A receptor, gamma 2 | |
| (GABA) A receptor, gamma 2 | |
| (GABA) A receptor, gamma II | |
| gamma-aminobutyric acid (GABA) A receptor, gamma II | |
| gamma-aminobutyric acid (GABA-A) receptor, subunit gamma II | |
| Gamma-aminobutyric-acid receptor gamma-2 subunit precursor | |
| gamma-aminobutyric acid A receptor, gamma | |
| gamma-aminobutyric acid A receptor, gamma 2 precursor |
| Organism | Rattus norvegicus |
|---|---|
| Mus musculus | |
| Human |
| LocusLink ID | 29709 |
|---|---|
| 14406 | |
| 103867 | |
| 104699 | |
| 2566 |
| RGD ID | 61966 |
|---|
| Pathway | path |
|---|---|
| path2 | |
| path1 | |
| path3 | |
| path4 | |
| path5 | |
| path6 | |
| path7 | |
| Copy of 'path8' | |
| path8 | |
| pathfeb |
| Unigene ID | Rn.45653 |
|---|---|
| Mm.5309 | |
| Hs.7195 | |
| Rn.101362 |