GAD2
Chr 10glutamate decarboxylase 2
Also known as: GAD65
The protein catalyzes the production of GABA (gamma-aminobutyric acid) from glutamic acid, serving as a key enzyme in GABAergic neurotransmission. Mutations cause early-onset epileptic encephalopathy, typically presenting in infancy with seizures and developmental delays. The gene shows high constraint against loss-of-function variants (LOEUF 0.372), and inheritance follows an autosomal recessive pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
105 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 78 | 2 | 0 | 80 |
Likely Benign | 0 | 2 | 1 | 1 | 4 |
Benign | 0 | 2 | 2 | 3 | 7 |
| Total | 0 | 82 | 16 | 4 | 102 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GAD2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Stabilization of Circadian Rhythms in Delirious ICU Patients Through Light Intervention
RECRUITINGTranscranial Magnetic Stimulation and Inhibitory Control Training to Reduce Binge Eating: Brain and Behavioral Changes
RECRUITINGInhibitory Control Training and iTBS for Excess Weight: Behavioral and Brain Changes (InhibE).
RECRUITINGExternal Resources
Links to major genomics databases and tools