GAD2
Chr 10glutamate decarboxylase 2
Also known as: GAD65
This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants 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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Inhibitory Control Training and iTBS for Excess Weight: Behavioral and Brain Changes (InhibE).
RECRUITINGStabilization of Circadian Rhythms in Delirious ICU Patients Through Light Intervention
RECRUITINGAssessing Molecular Mechanisms and Effects of Music Therapy in Youth With Sickle Cell Disease Using Single-cell RNA-sequencing
RECRUITINGTranscranial Magnetic Stimulation and Inhibitory Control Training to Reduce Binge Eating: Brain and Behavioral Changes
RECRUITINGExternal Resources
Links to major genomics databases and tools