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Aliases for GAD2 Gene

Aliases for GAD2 Gene

  • Glutamate Decarboxylase 2 (Pancreatic Islets And Brain, 65kDa) 2 3
  • Glutamate Decarboxylase 65 KDa Isoform 3 4
  • 65 KDa Glutamic Acid Decarboxylase 3 4
  • EC 4 63
  • GAD-65 3 4
  • GAD65 3 4
  • Glutamate Decarboxylase 2 (Pancreatic Islets And Brain, 65kD) 2
  • Glutamate Decarboxylase-2 (Pancreas) 3
  • Glutamate Decarboxylase 2 3
  • EC 4.1.1 63

External Ids for GAD2 Gene

Previous GeneCards Identifiers for GAD2 Gene

  • 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 (Pancreatic Islets And Brain, 65kDa)) is a Protein Coding gene. Diseases associated with GAD2 include autoimmune polyglandular syndrome type 2 and spastic cerebral palsy. Among its related pathways are Metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include protein heterodimerization activity and glutamate binding. An important paralog of this gene is DDC.

UniProtKB/Swiss-Prot for GAD2 Gene

  • Catalyzes the production of GABA

Gene Wiki entry for GAD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAD2 Gene

Genomics for GAD2 Gene

Regulatory Elements for GAD2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GAD2 Gene

26,216,307 bp from pter
26,304,562 bp from pter
88,256 bases
Plus strand

Genomic View for GAD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for GAD2 Gene at MOPED

Post-translational modifications for GAD2 Gene

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

Other Protein References for GAD2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GAD2 (GAD2)

Domains for GAD2 Gene

Gene Families for GAD2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q05329
  • 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

GENATLAS Biochemistry:
glutamate decarboxylase 2,islet beta cell,65kDa autoantigen in insulin-dependent diabetes mellitus and immunogen for autoreactive B cells
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.15 mM for glutamate {ECO:0000269 PubMed:8999827};
UniProtKB/Swiss-Prot CatalyticActivity:
L-glutamate = 4-aminobutanoate + CO(2)
UniProtKB/Swiss-Prot Function:
Catalyzes the production of GABA

Enzyme Numbers (IUBMB) for GAD2 Gene

Gene Ontology (GO) - Molecular Function for GAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004351 glutamate decarboxylase activity IEA --
GO:0005515 protein binding IPI 10671565
GO:0016595 glutamate binding IEA --
GO:0016831 carboxy-lyase activity --
GO:0030170 pyridoxal phosphate binding 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:

Animal Model Products

No data available for miRNA , Transcription Factor Targeting 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

Jensen Localization Image for GAD2 Gene COMPARTMENTS Subcellular localization image for GAD2 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 4
nucleus 3
cytoskeleton 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GAD2: view

Pathways for GAD2 Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for GAD2 Gene

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

Compounds for GAD2 Gene

(11) HMDB Compounds for GAD2 Gene

Compound Synonyms Cas Number PubMed IDs
  • 3-Sulphino-L-alanine
  • 2-Carboxyethylamine
Carbon dioxide
  • Carbon oxide
Cysteic acid
  • 2-Amino-3-sulfopropionate
  • Amfamox

(1) Drugbank Compounds for GAD2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(34) Novoseek inferred chemical compound relationships for GAD2 Gene

Compound -log(P) Hits PubMed IDs
glutamate 88.5 128
gaba 75.1 68
c-peptide 61.5 7
pyridoxal 5-phosphate 57.8 14
tyrosine 42.8 30
genes like me logo Genes that share compounds with GAD2: view

Transcripts for GAD2 Gene

Unigene Clusters for GAD2 Gene

Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GAD2

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GAD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GAD2 Gene

mRNA expression in normal human tissues for GAD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (10.4), Brain - Putamen (basal ganglia) (8.4), Brain - Caudate (basal ganglia) (8.0), Brain - Hypothalamus (5.9), and Brain - Anterior cingulate cortex (BA24) (4.5).

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, and MOPED for GAD2 Gene

SOURCE GeneReport for Unigene cluster for GAD2 Gene Hs.231829

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

Expression partners for GAD2 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
(Bos Taurus)
Mammalia GAD2 35
  • 91.74 (n)
  • 96.07 (a)
GAD2 36
  • 96 (a)
(Canis familiaris)
Mammalia GAD2 35
  • 92.19 (n)
  • 96.75 (a)
GAD2 36
  • 96 (a)
(Mus musculus)
Mammalia Gad2 35
  • 90.09 (n)
  • 95.73 (a)
Gad2 16
Gad2 36
  • 96 (a)
(Pan troglodytes)
Mammalia GAD2 35
  • 99.32 (n)
  • 99.66 (a)
GAD2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Gad2 35
  • 89.12 (n)
  • 96.07 (a)
(Monodelphis domestica)
Mammalia GAD2 36
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia GAD2 36
  • 92 (a)
(Gallus gallus)
Aves GAD2 35
  • 85.02 (n)
  • 94.44 (a)
GAD2 36
  • 90 (a)
(Anolis carolinensis)
Reptilia GAD2 36
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gad2 35
  • 76.18 (n)
  • 83.08 (a)
(Danio rerio)
Actinopterygii gad2 35
  • 73.29 (n)
  • 79.62 (a)
gad2 36
  • 79 (a)
fruit fly
(Drosophila melanogaster)
Insecta b 37
  • 46 (a)
Gad1 37
  • 54 (a)
Gad1 36
  • 53 (a)
(Caenorhabditis elegans)
Secernentea unc-25 37
  • 52 (a)
unc-25 36
  • 52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.19 36
  • 54 (a)
Species with no ortholog for GAD2:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for GAD2 Gene

Paralogs for GAD2 Gene

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

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

Variants for GAD2 Gene

Sequence variations from dbSNP and Humsavar for GAD2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs870341 -- 26,300,498(-) TCTAG(C/T)ATTGG intron-variant
rs870342 -- 26,300,456(-) GGGGC(A/G)TTTTC intron-variant
rs913962 -- 26,277,306(+) AGAAG(C/T)CTTGG intron-variant
rs913963 -- 26,277,363(+) TCTTT(C/T)CACGA intron-variant
rs913964 -- 26,298,612(+) GGATT(A/G)CCCAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv894975 CNV Gain 21882294

Relevant External Links for GAD2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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

Disorders for GAD2 Gene

(40) Novoseek inferred disease relationships for GAD2 Gene

Disease -log(P) Hits PubMed IDs
stiff-man syndrome 88.1 22
diabetes mellitus insulin-dependent 85.8 52
diabetes autoimmune 83.7 20
autoimmunity 79.9 36
autoimmune diseases 66.9 17

Relevant External Links for GAD2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with GAD2: view

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

Publications for GAD2 Gene

  1. Differential expression of GAD65 and GAD67 in human, rat, and mouse pancreatic islets. (PMID: 8243826) Kim J. … Baekkeskov S. (Diabetes 1993) 3 4 23
  2. Phosphorylation of serine residues 3, 6, 10, and 13 distinguishes membrane anchored from soluble glutamic acid decarboxylase 65 and is restricted to glutamic acid decarboxylase 65alpha. (PMID: 8999827) Namchuk M. … Baekkeskov S. (J. Biol. Chem. 1997) 3 4 23
  3. The exon-intron organization of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD67 and GAD65) suggests that they derive from a common ancestral GAD. (PMID: 8088791) Bu D.-F. … Tobin A.J. (Genomics 1994) 3 4 23
  4. A comprehensive, statistically powered analysis of GAD2 in type 1 diabetes. (PMID: 12196483) Johnson G.C. … Todd J.A. (Diabetes 2002) 3 23 48
  5. A combination of three distinct trafficking signals mediates axonal targeting and presynaptic clustering of GAD65. (PMID: 12356867) Kanaani J. … Baekkeskov S. (J. Cell Biol. 2002) 3 4 23

Products for GAD2 Gene

Sources for GAD2 Gene

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