Homo sapiens Gene: GABRA4
Summary
InnateDB Gene IDBG-16546.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GABRA4
Gene Name gamma-aminobutyric acid (GABA) A receptor, alpha 4
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000109158
Encoded Proteins
gamma-aminobutyric acid (GABA) A receptor, alpha 4
gamma-aminobutyric acid (GABA) A receptor, alpha 4
gamma-aminobutyric acid (GABA) A receptor, alpha 4
gamma-aminobutyric acid (GABA) A receptor, alpha 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:46918900-46994407
Strand Reverse strand
Band p12
Transcripts
ENST00000264318 ENSP00000264318
ENST00000511523 ENSP00000422152
ENST00000508560 ENSP00000425445
ENST00000502874 ENSP00000424386
ENST00000509316
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
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:0008503 benzodiazepine receptor activity
Biological Process
GO:0006810 transport
GO:0006811 ion transport
GO:0007214 gamma-aminobutyric acid signaling pathway
GO:0007268 synaptic transmission
GO:0007417 central nervous system development
GO:0034220 ion transmembrane transport
GO:0055085 transmembrane transport
GO:1902476 chloride transmembrane transport
GO:2001023 regulation of response to drug
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:0034707 chloride channel complex
GO:0045211 postsynaptic membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
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
Gamma-aminobutyric acid receptor life cycle pathway [Biocarta view]
Cardiac protection against ros [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.248112
RefSeq NM_000809 NM_001204266 NM_001204267 XM_006714003
HUGO
OMIM
CCDS CCDS3473
HPRD 08839
IMGT
EMBL
GenPept
RNA Seq Atlas