GABRB2

Chr 5AD

gamma-aminobutyric acid type A receptor subunit beta2

Also known as: DEE92, ICEE2

NCBI Gene: 2561 ENSG00000145864 UniProt: P47870 OMIM: 600232

The GABA A receptor beta 2 subunit forms part of chloride channels that mediate fast inhibitory synaptic transmission in the central nervous system. Mutations cause developmental and epileptic encephalopathy 92 through an autosomal dominant inheritance pattern via a gain-of-function mechanism. The protein localizes to the postsynaptic cell membrane where it functions as a critical component of GABAergic inhibitory signaling.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 92MIM #617829

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.39

LOEUF

Multiple*

Mechanism· predicted