Entity Details

Primary name GABRA2
Entity type gene
Source Source Link

Details

PrimaryID2555
RefseqGeneNG_012835
SymbolGABRA2
Namegamma-aminobutyric acid type A receptor subunit alpha2
Chromosome4
Location4p12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-06-03
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsGBRA2_HUMAN

GO terms

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GOName
GO:0001505 regulation of neurotransmitter levels
GO:0004890 GABA-A receptor activity
GO:0005237 inhibitory extracellular ligand-gated ion channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006836 neurotransmitter transport
GO:0007165 signal transduction
GO:0007214 gamma-aminobutyric acid signaling pathway
GO:0007268 chemical synaptic transmission
GO:0008503 benzodiazepine receptor activity
GO:0022851 GABA-gated chloride ion channel activity
GO:0030285 integral component of synaptic vesicle membrane
GO:0030594 neurotransmitter receptor activity
GO:0032590 dendrite membrane
GO:0034220 ion transmembrane transport
GO:0034707 chloride channel complex
GO:0042391 regulation of membrane potential
GO:0043005 neuron projection
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0050877 nervous system process
GO:0051932 synaptic transmission, GABAergic
GO:0060078 regulation of postsynaptic membrane potential
GO:0098794 postsynapse
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
618557 OMIMDevelopmental and epileptic encephalopathy 78 (DEE78)A form of epileptic encephalopathy, a heterogeneous group of severe early-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. DEE78 is an autosomal dominant form characterized by onset of refractory seizures in the first days or months of life. Clinical features include severe developmental delay, hypotonia, microcephaly, cortical visual impairment and profound intellectual disability. Some patients manifest a less severe phenotype characterized by pharmacoresponsive epilepsy, autism spectrum disorder and moderate intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
GABRA2UBQLN1BioGRID11528422 details
GABRA2GABRG2BioGRID31080408 details
GABRA2MDM2IntAct20195357 details