Entity Details

Primary name GABRB2
Entity type gene
Source Source Link

Details

PrimaryID2561
RefseqGeneNG_047050
SymbolGABRB2
Namegamma-aminobutyric acid type A receptor subunit beta2
Chromosome5
Location5q34
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-06-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGBRB2_HUMAN

GO terms

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GOName
GO:0004890 GABA-A receptor activity
GO:0005237 inhibitory extracellular ligand-gated ion channel activity
GO:0005254 chloride channel activity
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007165 signal transduction
GO:0007214 gamma-aminobutyric acid signaling pathway
GO:0007268 chemical synaptic transmission
GO:0007605 sensory perception of sound
GO:0022851 GABA-gated chloride ion channel activity
GO:0030594 neurotransmitter receptor activity
GO:0030659 cytoplasmic vesicle membrane
GO:0034220 ion transmembrane transport
GO:0034707 chloride channel complex
GO:0042391 regulation of membrane potential
GO:0043005 neuron projection
GO:0043524 negative regulation of neuron apoptotic process
GO:0045202 synapse
GO:0050877 nervous system process
GO:0051932 synaptic transmission, GABAergic
GO:0060119 inner ear receptor cell development
GO:0060384 innervation
GO:0070062 extracellular exosome
GO:0071420 cellular response to histamine
GO:0090102 cochlea development
GO:0098982 GABA-ergic synapse
GO:0099060 integral component of postsynaptic specialization membrane
GO:1902476 chloride transmembrane transport
GO:1902711 GABA-A receptor complex
GO:1904315 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential
GO:1904862 inhibitory synapse assembly

Diseases

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Disease IDSourceNameDescription
617829 OMIMEpileptic encephalopathy, infantile or early childhood, 2 (IECEE2)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years. The disease is caused by variants affecting the gene represented in this entry.