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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GAD2
glutamate decarboxylase 2
Chromosome 10 · 10p12.1
NCBI Gene: 2572Ensembl: ENSG00000136750.13HGNC: HGNC:4093UniProt: Q05329
128PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingglutamate decarboxylase activityGABA shuntGABA biosynthetic processtype 2 diabetes mellitusneuroinflammatory disorderdiabetes mellitustype 1 diabetes mellitus
✦AI Summary

GAD2 encodes glutamate decarboxylase 2 (GAD65), a cytoplasmic enzyme catalyzing GABA synthesis for vesicular release at presynaptic terminals 1. The gene produces multiple alternative transcripts whose expression is regulated by CREB and activity-dependent epigenetic mechanisms 1. GAD2 functions primarily in GABAergic neurotransmission, with dysregulation implicated in multiple neuropsychiatric conditions. In schizophrenia and bipolar disorder, reduced full-length GAD2 transcript expression in the dorsolateral prefrontal cortex correlates with decreased GABA synthesis capacity 2. Increased GAD2 truncated transcripts appear elevated in bipolar disorder but decreased in schizophrenia 2. Autoimmunity targeting GAD65 (the GAD2 protein product) causes diverse CNS hyperexcitability disorders. GAD65 antibodies are biomarkers for limbic encephalitis, epilepsy, cerebellar ataxia, and stiff-person syndrome, with ~70% of affected patients having coexisting autoimmune conditions including type 1 diabetes 3. Approximately 60-80% of stiff-person syndrome patients carry anti-GAD65 antibodies 4. GAD65 autoimmunity in seizure disorders correlates with increased risk for chr10 epilepsy 5. Clinically, immunotherapy responses are variable (~50% improvement) across GAD65-associated neurological phenotypes 3. Emerging evidence suggests GAD2 expression influences cancer cell proliferation through altered GABA signaling 6, though population-based associations with alcoholism remain inconsistent 7.

Sources cited
1
GAD2 encodes GAD65 localized to presynaptic terminals for GABA synthesis; transcription regulated by CREB and activity-dependent epigenetic modification
PMID: 22414751
2
GAD2 full-length transcript expression decreased in dorsolateral prefrontal cortex of schizophrenia and bipolar disorder patients; truncated transcript patterns differ between disorders
PMID: 26848839
3
GAD65 antibodies are biomarkers for autoimmune CNS disorders including limbic encephalitis, epilepsy, ataxia, and stiff-person syndrome; ~70% have coexisting autoimmune diseases; ~50% respond to immunotherapy
PMID: 28063151
4
Anti-GAD65 antibodies present in 60-80% of stiff-person syndrome patients; good evidence for autoimmune etiology
PMID: 19349711
5
GAD65 antibodies linked to limbic encephalitis causing seizures and increased risk for chronic epilepsy
PMID: 23526548
6
GAD2 expression levels influence cancer cell proliferation and survival through GABA signaling mechanisms
PMID: 40849687
7
GAD2 genetic variation shows modest association with alcoholism in some populations but not consistently across populations
PMID: 17034009
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.28Weak
neuroinflammatory disorderOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.10Weak
type 1 diabetes mellitusOpen Targets
0.10Weak
obesityOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
generalised epilepsyOpen Targets
0.07Suggestive
developmental and epileptic encephalopathy, 9Open Targets
0.07Suggestive
schizophreniaOpen Targets
0.07Suggestive
Stiff-Person syndromeOpen Targets
0.07Suggestive
genetic developmental and epileptic encephalopathyOpen Targets
0.06Suggestive
autosomal dominant epilepsy with auditory featuresOpen Targets
0.06Suggestive
infantile spasmsOpen Targets
0.06Suggestive
juvenile myoclonic epilepsyOpen Targets
0.06Suggestive
myoclonus-dystonia syndromeOpen Targets
0.06Suggestive
undetermined early-onset epileptic encephalopathyOpen Targets
0.06Suggestive
spinal cord injuryOpen Targets
0.06Suggestive
Generalized epilepsy with febrile seizures-plusOpen Targets
0.06Suggestive
Rolandic epilepsyOpen Targets
0.05Suggestive
neuroendocrine neoplasmOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC12A5Protein interaction99%ADOProtein interaction99%GOT1Protein interaction98%PTPRNProtein interaction97%SLC30A8Protein interaction97%GGT6Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Ovary
0%
Liver
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
GAD2SLC12A5ADOGOT1PTPRNSLC30A8GGT6
PROTEIN STRUCTURE
Preparing viewer…
PDB2OKK · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.17–0.39]
RankingsWhere GAD2 stands among ~20K protein-coding genes
  • #3,652of 20,598
    Most Researched128 · top quartile
  • #1,909of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedGAD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GAD65 neurological autoimmunity.
PMID: 28063151
Muscle Nerve · 2017
1.00
2
Transcriptional control of Gad2.
PMID: 22414751
Transcription · 2012
0.90
3
GAD2 Alternative Transcripts in the Human Prefrontal Cortex, and in Schizophrenia and Affective Disorders.
PMID: 26848839
PLoS One · 2016
0.80
4
GAD65 autoimmunity-clinical studies.
PMID: 19111163
Adv Immunol · 2008
0.70
5
Antibodies in epilepsy.
PMID: 23526548
Curr Neurol Neurosci Rep · 2013
0.60