Protein : GABRG2

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

GenBank ID L08497
AAC42036
NP_899156
M62374
AK049857
NT_039515
NM_008073
NP_032099
NM_177408
NP_803127
AF233775
AAK71573
AF233776
AAK71574
AF233777
AAK71575
AF233778
AAK71576
AF233779
AAK71577
AF233780
AAK71578
AF233781
AAK71579
AF233782
AAK71580
AF233783
AAK71581
AF233784
AAK71582
AF233785
AAK71583
AF233786
AAK71584
AF233787
AAK71585
AF233788
AAK71586
AF233789
AAK71587
AF233790
AAK71588
AF233791
AAK71589
AF233792
AAK71590
AF233793
AAK71591
AF233794
AAK71592
AF233795
AAK71593
AF233796
AAK71594
AF233797
AAK71595
AF233798
AAK71596
AF233799
AAK71597
AF233800
AAK71598
AF233801
AAK71599
AF233802
AAK71600
AK034338
AK047085
BAC32956
BAC33961
AK078261
BC031762
AAH31762
AAA37653
M86572
AAB59635
P22723
BC052926
BC059389
CD013897
AK123394
CD013896
NT_023133
NM_000816
NP_000807
AF165124
AAD50273
BC036030
AAH59389
X15376
CAA33437
P18507
NP_944493
NP_944494

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