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 ... See more...

Aliases for GAD2 Gene

Aliases for GAD2 Gene

  • Glutamate Decarboxylase 2 2 3 4 5
  • GAD65 2 3 4
  • Glutamate Decarboxylase 2 (Pancreatic Islets And Brain, 65kDa) 2 3
  • 65 KDa Glutamic Acid Decarboxylase 3 4
  • EC 4 50
  • GAD-65 3 4
  • Glutamate Decarboxylase 2 (Pancreatic Islets And Brain, 65kD) 2
  • Glutamate Decarboxylase 65 KDa Isoform 4
  • Glutamate Decarboxylase-2 (Pancreas) 3
  • EC 4.1.1 50
  • GAD2 5

External Ids for GAD2 Gene

Previous GeneCards Identifiers for GAD2 Gene

  • GC10P026240
  • GC10P026655
  • GC10P026509
  • GC10P026508
  • GC10P026545

Summaries for GAD2 Gene

Entrez Gene Summary for GAD2 Gene

  • 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]

GeneCards Summary for GAD2 Gene

GAD2 (Glutamate Decarboxylase 2) is a Protein Coding gene. Diseases associated with GAD2 include Autoimmune Polyendocrine Syndrome, Type Ii and Stiff-Person Syndrome. Among its related pathways are Beta-alanine metabolism (TR) and Butanoate metabolism. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and carboxy-lyase activity. An important paralog of this gene is GAD1.

UniProtKB/Swiss-Prot Summary for GAD2 Gene

Gene Wiki entry for GAD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAD2 Gene

Genomics for GAD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GAD2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J026216 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 250.7 -0.3 -271 0.6 ZNF600 ZBTB10 REST ZNF341 SIN3A KLF9 SP2 YY1 KLF16 ZBTB48 GAD2 HSALNG0076790 lnc-ABI1-10 NONHSAG005433.2 MYO3A
GH10J026217 Promoter 0.9 EPDnew 250.7 +0.1 131 0.1 ZNF600 REST KLF9 SP2 SAFB KLF16 ZBTB48 ZNF398 EGR1 ZNF785 GAD2 HSALNG0076790 lnc-ABI1-10 APBB1IP
GH10J026213 Enhancer 0.7 FANTOM5 Ensembl ENCODE 254.1 -1.9 -1941 1.1 YY1 NANOG EZH2 GAD2 lnc-ABI1-10 MYO3A NONHSAG005433.2
GH10J026220 Promoter 0.7 EPDnew 250.7 +0.4 383 0.1 SAFB ZNF785 POLR2A ZBTB20 EZH2 ZNF335 ZBTB26 GAD2 HSALNG0076790 lnc-ABI1-10 APBB1IP
GH10J026218 Enhancer 0.4 ENCODE 250.7 +1.5 1525 0.1 POLR2A EZH2 ZNF335 GAD2 HSALNG0076790 lnc-ABI1-10 piR-35674-045 APBB1IP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAD2

Top Transcription factor binding sites by QIAGEN in the GAD2 gene promoter:
  • Evi-1
  • HNF-1
  • HNF-1A
  • HOXA9
  • HOXA9B
  • HSF2
  • Meis-1
  • Meis-1b
  • NRSF form 1
  • NRSF form 2

Genomic Locations for GAD2 Gene

Latest Assembly
88,187 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
88,187 bases
Plus strand

(GRCh37/hg19 by Ensembl)
88,252 bases
Plus strand

Genomic View for GAD2 Gene

Genes around GAD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAD2 Gene

Proteins for GAD2 Gene

  • Protein details for GAD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glutamate decarboxylase 2
    Protein Accession:
    Secondary Accessions:
    • Q9UD87

    Protein attributes for GAD2 Gene

    585 amino acids
    Molecular mass:
    65411 Da
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    • Sequence=CAA49554.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GAD2 Gene

neXtProt entry for GAD2 Gene

Selected DME Specific Peptides for GAD2 Gene


Post-translational modifications for GAD2 Gene

  • Phosphorylated; which does not affect kinetic parameters or subcellular location.
  • Palmitoylated; which is required for presynaptic clustering.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GAD2 Gene

Antibodies for research

Domains & Families for GAD2 Gene

Gene Families for GAD2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GAD2 Gene

GenScript: Design optimal peptide antigens:
  • Glutamate decarboxylase 65 kDa isoform (DCE2_HUMAN)
  • GAD2 protein (Q4G154_HUMAN)
  • Glutamate decarboxylase 2 (Pancreatic islets and brain, 65kDa), isoform CRA_b (Q5VZ30_HUMAN)
  • Glutamic acid decarboxylase (Q9UGI5_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the group II decarboxylase family.
  • Belongs to the group II decarboxylase family.
genes like me logo Genes that share domains with GAD2: view

Function for GAD2 Gene

Molecular function for GAD2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the production of GABA.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + L-glutamate = 4-aminobutanoate + CO2; Xref=Rhea:RHEA:17785, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:29985, ChEBI:CHEBI:59888; EC=;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.15 mM for glutamate {ECO:0000269|PubMed:8999827};
GENATLAS Biochemistry:
glutamate decarboxylase 2,islet beta cell,65kDa autoantigen in insulin-dependent diabetes mellitus and immunogen for autoreactive B cells

Enzyme Numbers (IUBMB) for GAD2 Gene

Phenotypes From GWAS Catalog for GAD2 Gene

Gene Ontology (GO) - Molecular Function for GAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004351 glutamate decarboxylase activity IEA --
GO:0005515 protein binding IPI 10671565
GO:0016595 glutamate binding IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with GAD2: view
genes like me logo Genes that share phenotypes with GAD2: view

Animal Models for GAD2 Gene

MGI Knock Outs for GAD2:
  • Gad2 Gad2<tm1Bae>
  • Gad2 Gad2<tm1b(EUCOMM)Wtsi>
  • Gad2 Gad2<tm1Miya>
  • Gad2 Gad2<tm1Oba>

Animal Models for research

  • Taconic Biosciences Mouse Models for GAD2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAD2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GAD2 Gene

Localization for GAD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAD2 Gene

Cytoplasm, cytosol. Cytoplasmic vesicle. Cell junction, synapse, presynaptic cell membrane. Lipid-anchor. Golgi apparatus membrane. Peripheral membrane protein. Cytoplasmic side. Note=Associated to cytoplasmic vesicles. In neurons, cytosolic leaflet of Golgi membranes and presynaptic clusters.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAD2 gene
Compartment Confidence
plasma membrane 4
cytosol 4
golgi apparatus 4
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with GAD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GAD2 Gene

Pathways & Interactions for GAD2 Gene

genes like me logo Genes that share pathways with GAD2: view

Gene Ontology (GO) - Biological Process for GAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006540 glutamate decarboxylation to succinate TAS,IEA --
GO:0007268 chemical synaptic transmission TAS 8954991
GO:0007269 neurotransmitter secretion TAS --
GO:0019752 carboxylic acid metabolic process IEA --
GO:0042136 neurotransmitter biosynthetic process IEA --
genes like me logo Genes that share ontologies with GAD2: view

No data available for SIGNOR curated interactions for GAD2 Gene

Drugs & Compounds for GAD2 Gene

(37) Drugs for GAD2 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenelzine Approved Pharma Target, inhibitor 10
Glutamic acid Approved Nutra Target 324
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 18
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 99

(10) Additional Compounds for GAD2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GAD2: view

Transcripts for GAD2 Gene

mRNA/cDNA for GAD2 Gene

12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAD2

Alternative Splicing Database (ASD) splice patterns (SP) for GAD2 Gene

No ASD Table

Relevant External Links for GAD2 Gene

GeneLoc Exon Structure for

Expression for GAD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GAD2 Gene

mRNA differential expression in normal tissues according to GTEx for GAD2 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x10.4), Brain - Putamen (basal ganglia) (x8.4), Brain - Caudate (basal ganglia) (x8.0), Brain - Hypothalamus (x5.9), and Brain - Anterior cingulate cortex (BA24) (x4.5).

Protein differential expression in normal tissues from HIPED for GAD2 Gene

This gene is overexpressed in Frontal cortex (22.5), Brain (14.8), Retina (14.0), and Islet of Langerhans (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GAD2 Gene

Protein tissue co-expression partners for GAD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAD2

SOURCE GeneReport for Unigene cluster for GAD2 Gene:


Evidence on tissue expression from TISSUES for GAD2 Gene

  • Pancreas(4.9)
  • Nervous system(3.4)
  • Eye(2.5)
  • Skin(2.5)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with GAD2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAD2 Gene

Orthologs for GAD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GAD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GAD2 29 30
  • 99.32 (n)
(Canis familiaris)
Mammalia GAD2 29 30
  • 92.19 (n)
(Ornithorhynchus anatinus)
Mammalia GAD2 30
  • 92 (a)
(Bos Taurus)
Mammalia GAD2 29 30
  • 91.74 (n)
(Mus musculus)
Mammalia Gad2 29 16 30
  • 90.09 (n)
(Rattus norvegicus)
Mammalia Gad2 29
  • 89.12 (n)
(Monodelphis domestica)
Mammalia GAD2 30
  • 86 (a)
(Gallus gallus)
Aves GAD2 29 30
  • 85.02 (n)
(Anolis carolinensis)
Reptilia GAD2 30
  • 87 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gad2 29
  • 76.18 (n)
(Danio rerio)
Actinopterygii gad2 29 30
  • 73.29 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Gad1 30 31
  • 53 (a)
b 31
  • 46 (a)
(Caenorhabditis elegans)
Secernentea unc-25 30 31
  • 52 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.19 30
  • 54 (a)
Species where no ortholog for GAD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GAD2 Gene

Gene Tree for GAD2 (if available)
Gene Tree for GAD2 (if available)
Evolutionary constrained regions (ECRs) for GAD2: view image
Alliance of Genome Resources:
Additional Orthologs for GAD2

Paralogs for GAD2 Gene

Paralogs for GAD2 Gene

(5) SIMAP similar genes for GAD2 Gene using alignment to 5 proteins:

  • Q4G154_HUMAN
  • Q5VZ29_HUMAN
  • Q5VZ30_HUMAN
  • Q5VZ31_HUMAN
genes like me logo Genes that share paralogs with GAD2: view

Variants for GAD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAD2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs143186590 Benign: not provided 26,224,610(+) T/C
NM_001134366.2(GAD2):c.683T>C (p.Ile228Thr)
rs2229845 Benign: not provided 26,217,930(+) C/T
NM_001134366.2(GAD2):c.225C>T (p.Cys75=)
rs2839672 Benign: not provided 26,219,214(+) C/Ap.Pro153Gln
NM_001134366.2(GAD2):c.458C>A (p.Pro153Gln)
rs2839673 Benign: not provided 26,224,622(+) G/Ap.Gly232Glu
NM_001134366.2(GAD2):c.695G>A (p.Gly232Glu)
rs377665668 Likely Benign: not provided 26,219,284(+) C/T

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GAD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GAD2 Gene

Variant ID Type Subtype PubMed ID
esv3335357 CNV insertion 20981092
esv3576316 CNV gain 25503493

Variation tolerance for GAD2 Gene

Residual Variation Intolerance Score: 19.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.84; 48.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAD2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAD2 Gene

Disorders for GAD2 Gene

MalaCards: The human disease database

(47) MalaCards diseases for GAD2 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GAD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GAD2

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GAD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GAD2 Gene

Publications for GAD2 Gene

  1. GAD2 gene sequence variations are associated with eating behaviors and weight gain in women from the Quebec family study. (PMID: 19686769) Choquette AC … Pérusse L (Physiology & behavior 2009) 3 22 40
  2. Association analysis of the glutamic acid decarboxylase 2 and the glutamine synthetase genes (GAD2, GLUL) with schizophrenia. (PMID: 19125103) Arai S … Fukumaki Y (Psychiatric genetics 2009) 3 22 40
  3. Mutation screen of the GAD2 gene and association study of alcoholism in three populations. (PMID: 17034009) Lappalainen J … Gelernter J (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 22 40
  4. GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop. (PMID: 17384644) Fenalti G … Whisstock JC (Nature structural & molecular biology 2007) 3 4 22
  5. A -243A-->G polymorphism upstream of the gene encoding GAD65 associates with lower levels of body mass index and glycaemia in a population-based sample of 5857 middle-aged White subjects. (PMID: 17459095) Boesgaard TW … Pedersen O (Diabetic medicine : a journal of the British Diabetic Association 2007) 3 22 40

Products for GAD2 Gene

Sources for GAD2 Gene