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
Not yet available
Pathways
NETPATH
REACTOME
Ligand-gated ion channel transport pathway
GABA A receptor activation pathway
Transmembrane transport of small molecules pathway
Neuronal System pathway
GABA receptor activation pathway
Orphan transporters pathway
Ion channel transport pathway
Transmission across Chemical Synapses pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
KEGG
Neuroactive ligand-receptor interaction pathway
INOH
PID NCI
Cross-References
SwissProt P18507
TrEMBL
UniProt Splice Variant
Entrez Gene 2566
UniGene Hs.629040 Hs.7195
RefSeq NM_198903 NM_000816 NM_198904
HUGO HGNC:4087
OMIM 137164
CCDS CCDS47333 CCDS4358 CCDS4359
HPRD 00663
IMGT
EMBL AC008611 AC091926 AC091984 AF165124 BC059389 BC069348 BC074795 X15376
GenPept AAD50273 AAH59389 AAH69348 AAH74795 CAA33437
RNA Seq Atlas 2566