GABRG2

Chr 5AD

gamma-aminobutyric acid type A receptor subunit gamma2

Also known as: CAE2, DEE74, ECA2, EIEE74, FEB8, GEFSP3

NCBI Gene: 2566 ENSG00000113327 UniProt: P18507 OMIM: 137164

The gene encodes the gamma-2 subunit of GABA-A receptors, which are pentameric ligand-gated chloride channels that mediate inhibitory neurotransmission in the brain. Mutations cause autosomal dominant epilepsy syndromes including developmental and epileptic encephalopathy, generalized epilepsy with febrile seizures plus, and familial febrile seizures. Disease can result from multiple mechanisms depending on the specific variant, with some mutations causing loss of receptor function while others may produce dominant-negative or gain-of-function effects.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 74MIM #618396

Febrile seizures, familial, 8MIM #607681

Generalized epilepsy with febrile seizures plus, type 3MIM #607681

UniProtEpilepsy, childhood absence 2

Clinical highlights

Gene-disease validity (ClinGen)

epilepsy · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Both loss of function and dominant negative mechanisms are described for this gene and which one applies is variant-dependent. Do not assume a null variant is — or isn't — the pathogenic class without checking the specific variant against curated evidence.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.40

LOEUF

LOF/DN*

Mechanism· annotated

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GeneReview available — GABRG2