Homo sapiens Gene: GABRG2
Summary
InnateDB Gene IDBG-56451.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GABRG2
Gene Name gamma-aminobutyric acid (GABA) A receptor, gamma 2
Synonyms CAE2; ECA2; GEFSP3;
Species Homo sapiens
Ensembl Gene ENSG00000113327
Encoded Proteins
gamma-aminobutyric acid (GABA) A receptor, gamma 2
gamma-aminobutyric acid (GABA) A receptor, gamma 2
gamma-aminobutyric acid (GABA) A receptor, gamma 2
gamma-aminobutyric acid (GABA) A receptor, gamma 2
gamma-aminobutyric acid (GABA) A receptor, gamma 2
gamma-aminobutyric acid (GABA) A receptor, gamma 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:162067540-162155536
Strand Forward strand
Band q34
Transcripts
ENST00000356592 ENSP00000349000
ENST00000361925 ENSP00000354651
ENST00000414552 ENSP00000410732
ENST00000522990 ENSP00000430732
ENST00000523372 ENSP00000430124
ENST00000522053 ENSP00000430182
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:0009791 post-embryonic development
GO:0030534 adult behavior
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:0005737 cytoplasm
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:0030424 axon
GO:0032590 dendrite membrane
GO:0034707 chloride channel complex
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0060077 inhibitory synapse
GO:1902711 GABA-A receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Ligand-gated ion channel transport pathway
Neuronal System pathway
GABA receptor activation pathway
Orphan transporters pathway
Ion channel transport pathway
Transmission across Chemical Synapses pathway
GABA A receptor activation pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
KEGG
Neuroactive ligand-receptor interaction pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL E5RIG3
UniProt Splice Variant
Entrez Gene 2566
UniGene Hs.629040 Hs.7195
RefSeq NM_000816 NM_198903 NM_198904
HUGO HGNC:4087
OMIM 137164
CCDS CCDS4358 CCDS4359 CCDS47333
HPRD 00663
IMGT
EMBL AC008611 AC091926 AC091984
GenPept
RNA Seq Atlas 2566