Mus musculus Gene: Gabrb3
Summary
InnateDB Gene IDBG-190262.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Gabrb3
Gene Name gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
Synonyms A230092K12Rik; AW049585; beta3; Cp1; Gabrb-3
Species Mus musculus
Ensembl Gene ENSMUSG00000033676
Encoded Proteins
gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000166206:
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2010]
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:57590518-57828802
Strand Forward strand
Band B5
Transcripts
ENSMUST00000085240 ENSMUSP00000082337
ENSMUST00000039697 ENSMUSP00000038051
ENSMUST00000156375
ENSMUST00000138350 ENSMUSP00000118835
ENSMUST00000136033
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Predicted by orthology
Total 5 [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
Biological Process
GO:0006810 transport
GO:0006811 ion transport
GO:0007214 gamma-aminobutyric acid signaling pathway
GO:0007605 sensory perception of sound
GO:0034220 ion transmembrane transport
GO:0043523 regulation of neuron apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0048666 neuron development
GO:0060119 inner ear receptor cell development
GO:0060384 innervation
GO:0071420 cellular response to histamine
GO:0090102 cochlea development
GO:1901215 negative regulation of neuron death
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:0034707 chloride channel complex
GO:0045202 synapse
GO:0045211 postsynaptic membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
GABA A receptor activation pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
Orphan transporters pathway
Ligand-gated ion channel transport pathway
Ion channel transport pathway
Transmembrane transport of small molecules pathway
GABA receptor activation pathway
Neuronal System pathway
Transmission across Chemical Synapses pathway
KEGG
Neuroactive ligand-receptor interaction pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.470437 Mm.8004
RefSeq NM_001038701 NM_008071
OMIM
CCDS CCDS21323 CCDS21324
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas