Gene: GABRB2

Alternate names for this Gene: ICEE2

Gene Summary: The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion.

Gene is located in Chromosome: 5

Location in Chromosome : 5q34

Description of this Gene: gamma-aminobutyric acid type A receptor subunit beta2

Type of Gene: protein-coding

rs1554093884 in GABRB2 gene and EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 PMID 25124326 2014 A novel variant in GABRB2 associated with intellectual disability and epilepsy.

PMID 27789573 2017 A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

rs1554094278 in GABRB2 gene and Muscle hypotonia PMID 27789573 2017 A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

PMID 25194483 2014 Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.

PMID 25124326 2014 A novel variant in GABRB2 associated with intellectual disability and epilepsy.

PMID 23038269 2012 Structure, function, and modulation of GABA(A) receptors.

PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 26050032 2015 The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

rs62381574 in GABRB2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.