Entity Details

Primary name GABRB3
Entity type gene
Source Source Link

Details

PrimaryID2562
RefseqGeneNG_012836
SymbolGABRB3
Namegamma-aminobutyric acid type A receptor subunit beta3
Chromosome15
Location15q12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1991-11-06
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGBRB3_HUMAN

GO terms

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GOName
GO:0004890 GABA-A receptor activity
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: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:0042802 identical protein binding
GO:0043005 neuron projection
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0050877 nervous system process
GO:0060021 roof of mouth development
GO:0071420 cellular response to histamine
GO:1902476 chloride transmembrane transport
GO:1902711 GABA-A receptor complex
GO:1904862 inhibitory synapse assembly

Diseases

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Disease IDSourceNameDescription
617113 OMIMDevelopmental and epileptic encephalopathy 43 (DEE43)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. DEE43 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
612269 OMIMEpilepsy, childhood absence 5 (ECA5)A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. Disease susceptibility is associated with variants affecting the gene represented in this entry.