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Aliases for GAD2 Gene

Aliases for GAD2 Gene

  • Glutamate Decarboxylase 2 2 3 5
  • 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 4.1.1.15 4 63
  • GAD-65 3 4
  • GAD65 3 4
  • Glutamate Decarboxylase 2 (Pancreatic Islets And Brain, 65kD) 2
  • Glutamate Decarboxylase-2 (Pancreas) 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) is a Protein Coding gene. Diseases associated with GAD2 include Stiff-Person Syndrome and Autoimmune Polyglandular Syndrome Type 2. Among its related pathways are Glucose / Energy Metabolism and Taurine and hypotaurine metabolism. GO annotations related to this gene include protein heterodimerization activity and carboxy-lyase activity. 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

Enhancers for GAD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GAD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GAD2 Gene

Chromosome:
10
Start:
26,216,307 bp from pter
End:
26,304,562 bp from pter
Size:
88,256 bases
Orientation:
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:
    Q05329-DCE2_HUMAN
    Recommended name:
    Glutamate decarboxylase 2
    Protein Accession:
    Q05329
    Secondary Accessions:
    • Q9UD87

    Protein attributes for GAD2 Gene

    Size:
    585 amino acids
    Molecular mass:
    65411 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • 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

Antibody Products

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

Domains & Families for GAD2 Gene

Gene Families for GAD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q05329

UniProtKB/Swiss-Prot:

DCE2_HUMAN :
  • Belongs to the group II decarboxylase family.
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

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

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

Animal Models for GAD2 Gene

MGI Knock Outs for GAD2:

Animal Model Products

  • Taconic Biosciences Mouse Models for GAD2

No data available for Gene Ontology (GO) - Molecular Function , 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

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

Gene Ontology (GO) - Cellular Components for GAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0030672 synaptic vesicle membrane IEA --
GO:0031225 anchored component of membrane IEA --
GO:0060077 inhibitory synapse IEA --
genes like me logo Genes that share ontologies with GAD2: view

Pathways & Interactions for GAD2 Gene

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

Gene Ontology (GO) - Biological Process for GAD2 Gene

None

No data available for SIGNOR curated interactions for GAD2 Gene

Drugs & Compounds for GAD2 Gene

(32) 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 6
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
L-Aspartic acid Approved Nutra NMDA agonist 0
3-Sulfinoalanine Experimental Pharma 0
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0

(15) Additional Compounds for GAD2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Cysteic acid
  • 2-Amino-3-sulfopropanoate
  • 2-Amino-3-sulfopropanoic acid
  • 2-Amino-3-sulfopropionate
  • 2-Amino-3-sulfopropionic acid
  • 3-Sulfoalanine
498-40-8
Hypotaurine
  • 2-Amino-Ethanesulfinate
  • 2-Amino-Ethanesulfinic acid
  • 2-Aminoethanesulfinate
  • 2-Aminoethanesulfinic acid
  • 2-Aminoethylsulfinate
300-84-5
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:

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

No ASD Table

Relevant External Links for GAD2 Gene

GeneLoc Exon Structure for
GAD2
ECgene alternative splicing isoforms for
GAD2

Expression for GAD2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for GAD2 Gene



SOURCE GeneReport for Unigene cluster for GAD2 Gene Hs.231829

genes like me logo Genes that share expression patterns with GAD2: view

Protein tissue co-expression partners for GAD2 Gene

- Elite partner

Primer 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
cow
(Bos Taurus)
Mammalia GAD2 35
  • 91.74 (n)
  • 96.07 (a)
GAD2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAD2 35
  • 92.19 (n)
  • 96.75 (a)
GAD2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gad2 35
  • 90.09 (n)
  • 95.73 (a)
Gad2 16
Gad2 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GAD2 35
  • 99.32 (n)
  • 99.66 (a)
GAD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gad2 35
  • 89.12 (n)
  • 96.07 (a)
oppossum
(Monodelphis domestica)
Mammalia GAD2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAD2 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAD2 35
  • 85.02 (n)
  • 94.44 (a)
GAD2 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAD2 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gad2 35
  • 76.18 (n)
  • 83.08 (a)
zebrafish
(Danio rerio)
Actinopterygii gad2 35
  • 73.29 (n)
  • 79.62 (a)
gad2 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta b 37
  • 46 (a)
Gad1 37
  • 54 (a)
Gad1 36
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-25 37
  • 52 (a)
unc-25 36
  • 52 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.19 36
  • 54 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GAD2 (if available)
TreeFam:
Gene Tree for GAD2 (if available)

Paralogs for GAD2 Gene

Paralogs for GAD2 Gene

(5) 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
rs8190591 - 26,216,843(+) CTTTC(C/G)GGTCG reference, missense
rs8190600 - 26,219,128(+) GTGAA(A/C)AGTTT reference, missense
rs8190671 - 26,245,937(+) TCTCA(A/G)GAAGG reference, missense
rs8190730 - 26,273,667(+) GTCCC(A/G/T)AAAAC reference, missense
rs2839672 - 26,219,214(+) CCAAC(A/C)ACAAA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv894975 CNV Gain 21882294

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)

Relevant External Links for GAD2 Gene

Human Gene Mutation Database (HGMD)
GAD2

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

Disorders for GAD2 Gene

MalaCards: The human disease database

(25) MalaCards diseases for GAD2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
stiff-person syndrome
  • stiff man syndrome
autoimmune polyglandular syndrome type 2
  • autoimmune polyendocrine syndrome type 2
diabetes mellitus, insulin-dependent
  • diabetes, type 1
diabetic ketoacidosis
  • diabetes mellitus, ketosis-prone
neuronitis
- elite association - COSMIC cancer census association via MalaCards
Search GAD2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GAD2

Genetic Association Database (GAD)
GAD2
Human Genome Epidemiology (HuGE) Navigator
GAD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GAD2
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. Differential expression of GAD65 and GAD67 in human, rat, and mouse pancreatic islets. (PMID: 8243826) Kim J. … Baekkeskov S. (Diabetes 1993) 3 4 23 67
  2. Activity-dependent cleavage of brain glutamic acid decarboxylase 65 by calpain. (PMID: 16879709) Wei J. … Wu J.Y. (J. Neurochem. 2006) 23 25 26
  3. The PEVKEK region of the pyridoxal phosphate binding domain of GAD65 expresses a dominant B cell epitope for type 1 diabetes sera. (PMID: 12021103) Tong J.C. … Rowley M.J. (Ann. N. Y. Acad. Sci. 2002) 3 23 25
  4. The diabetic antigen glutamic acid decarboxylase (GAD 65) in the human peripheral blood. (PMID: 20016201) Tilz G.P. … Wiltgen M. (Int. Arch. Allergy Immunol. 2010) 3 23
  5. Evidence for molecular mimicry between human T cell epitopes in rotavirus and pancreatic islet autoantigens. (PMID: 20083660) Honeyman M.C. … Harrison L.C. (J. Immunol. 2010) 3 23

Products for GAD2 Gene

Sources for GAD2 Gene

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