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FLASH GENE
Symbol GABRB2 contributors: mct - updated : 18-11-2016
HGNC name gamma-aminobutyric acid (GABA) A receptor, beta 2
HGNC id 4082
ASSOCIATED DISORDERS
corresponding disease(s) SMEI4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
contribute to neurological and developmental dysfunction
Susceptibility
  • to psychosis, the core symptom and an endophenotype of schizophrenia
  • to epilepsy susceptibility
  • to Developmental and epileptic encephalopathy (DEE)
  • Variant & Polymorphism other
  • heterozygous missense variant in exon 4 of GABRB2 (c.236T>C; p.M79T)associated with intellectual disability and epilepsy
  • SNP in GABRB2 associated with psychosis, the core symptom and an endophenotype of schizophrenia
  • involvement of beta (GABRB2) subunits of GABA(A) receptor in epilepsy susceptibility
  • de novo missense variants, p.Thr287Pro, has been found to reduce cell-surface expression and peak current amplitudes of GABAA channels, and can cause a DEE
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS