GABRB2 gene

gamma-aminobutyric acid type A receptor beta2 subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

From NCBI Gene:

  • EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

From UniProt:

Epileptic 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. [MIM:617829]

Cytogenetic Location: 5q34, which is the long (q) arm of chromosome 5 at position 34

Molecular Location: base pairs 161,288,429 to 161,548,124 on chromosome 5 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 5q34, which is the long (q) arm of chromosome 5 at position 34