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gamma-aminobutyric acid receptor subunit gamma-2; GABA(A) receptor subunit gamma-2 (GABRG2)
Function:
- GABA-A receptor gamma subunit
- this subunit carries the benzodiazepine binding site
- palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering &/or cell surface stability (putative)
Structure:
- belongs to the ligand-gated ionic channel (TC 1.A.9) family
Compartment:
- cell junction, synapse, postsynaptic cell membrane
Pathology:
- defects in GABRG2 are the cause of:
a) childhood absence epilepsy type 2
b) familial febrile convulsions type 8
c) generalized epilepsy with febrile seizures plus type 3
d) severe myoclonic epilepsy in infancy
General
gamma-aminobutyric acid (GABA) A receptor, gamma
glycoprotein
transmembrane 4e protein
Properties
SIZE: entity length = 467 aa
MW = 54 kD
COMPARTMENT: plasma membrane
MOTIF: exoplasmic domain {1-273}
MOTIF: signal sequence {1-39}
N-glycosylation site {N52}
N-glycosylation site {N129}
cysteine residue {C190}
MODIFICATION: cysteine residue {C204}
cysteine residue {C204}
MODIFICATION: cysteine residue {C190}
N-glycosylation site {N247}
transmembrane domain {274-296}
cytoplasmic loop {297-299}
transmembrane domain {300-322}
exoplasmic loop {323-333}
transmembrane domain {334-356}
cytoplasmic loop {357-443}
MOTIF: GABARAP interaction {425-442}
transmembrane domain {444-466}
exoplasmic domain {466-467}
Database Correlations
OMIM correlations
MORBIDMAP 137164
UniProt P18507
PFAM correlations
Entrez Gene 2566
Kegg hsa:2566
References
- UniProt :accession P18507
- Protein Spotlight; Note: forbidden fruit -
Issue 56 of March 2005
http://www.expasy.org/spotlight/back_issues/sptlt056.shtml