InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GABRG2

Summary

InnateDB Protein

IDBP-56455.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GABRG2

Protein Name

gamma-aminobutyric acid (GABA) A receptor, gamma 2

Synonyms

CAE2; ECA2; GEFSP3;

Species

Homo sapiens

Ensembl Protein

ENSP00000354651

InnateDB Gene

IDBG-56451 (GABRG2)

Protein Structure

UniProt Annotation

Function

Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel. {ECO:0000269PubMed:2538761}.

Subcellular Localization

Cell junction, synapse, postsynaptic cell membrane {ECO:0000269PubMed:2538761}; Multi-pass membrane protein {ECO:0000269PubMed:2538761}. Cell membrane {ECO:0000269PubMed:2538761}; Multi-pass membrane protein {ECO:0000269PubMed:2538761}.

Disease Associations

Epilepsy, childhood absence 2 (ECA2) [MIM:607681]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. {ECO:0000269PubMed:11326275}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Febrile seizures, familial, 8 (FEB8) [MIM:611277]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269PubMed:16924025}. Note=The disease is caused by mutations affecting the gene represented in this entry.Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269PubMed:11326274}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004890	GABA-A receptor activity
GO:0005230	extracellular ligand-gated ion channel activity
GO:0005254	chloride channel activity
GO:0005515	protein binding
GO:0008503	benzodiazepine receptor activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006821	chloride transport
GO:0007214	gamma-aminobutyric acid signaling pathway
GO:0007268	synaptic transmission
GO:0034220	ion transmembrane transport
GO:0051932	synaptic transmission, GABAergic
GO:0055085	transmembrane transport
GO:0071420	cellular response to histamine
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030054	cell junction
GO:0032590	dendrite membrane
GO:0034707	chloride channel complex
GO:0045202	synapse
GO:0045211	postsynaptic membrane
GO:1902711	GABA-A receptor complex

Protein Structure and Domains

PDB ID

InterPro

IPR001390 Gamma-aminobutyric-acid A receptor, alpha subunit
IPR005437 Gamma-aminobutyric-acid A receptor, gamma subunit
IPR005439 Gamma-aminobutyric-acid A receptor, gamma 2 subunit
IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
IPR006201 Neurotransmitter-gated ion-channel
IPR006202 Neurotransmitter-gated ion-channel ligand-binding

PFAM

PF02932
PF02931

PRINTS

PR01079
PR01620
PR01622
PR00253
PR00252

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P18507