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 |
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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 |