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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GAD2 Gene

protein-coding   GIFtS: 69
GCID: GC10P026545

Glutamate Decarboxylase 2 (Pancreatic Islets And Brain,...

(Previous names: glutamate decarboxylase 2 (pancreatic islets and brain,...)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Glutamate Decarboxylase 2 (Pancreatic Islets And Brain, 65kDa)1 2     EC 4.1.1.153 8
Glutamate Decarboxylase 65 KDa Isoform2 3     Glutamate Decarboxylase 2 (Pancreatic Islets And Brain, 65kD)1
65 KDa Glutamic Acid Decarboxylase2 3     Glutamate Decarboxylase 22
GAD-652 3     Glutamate Decarboxylase-2 (Pancreas)2
GAD652 3     EC 4.1.18

External Ids:    HGNC: 40931   Entrez Gene: 25722   Ensembl: ENSG000001367507   OMIM: 1382755   UniProtKB: Q053293   

Export aliases for GAD2 gene to outside databases

Previous GC identifers: GC10P026240 GC10P026655 GC10P026509 GC10P026508


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Synaptic Neurotransmission: GABAergic Inhibition and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. GO annotations related to this gene include glutamate binding and protein heterodimerization activity. An important paralog of this gene is DDC.

UniProtKB/Swiss-Prot: DCE2_HUMAN, Q05329
Function: Catalyzes the production of GABA

Gene Wiki entry for GAD2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GAD2 gene promoter:
         HOXA9   HOXA9B   NRSF form 1   NRSF form 2   HNF-1A   Evi-1   Meis-1b   HSF2   HNF-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GAD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GAD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p11.23   Ensembl cytogenetic band:  10p12.1   HGNC cytogenetic band: 10p13-p11.2

GAD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAD2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P026545:  view genomic region     (about GC identifiers)

Start:
26,505,236 bp from pter      End:
26,593,491 bp from pter
Size:
88,256 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DCE2_HUMAN, Q05329 (See protein sequence)
Recommended Name: Glutamate decarboxylase 2  
Size: 585 amino acids; 65411 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
Subcellular location: 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
Sequence caution: Sequence=CAA49554.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for GAD2:
1ES0 (3D)        2OKK (3D)    
Secondary accessions: Q9UD87

Explore the universe of human proteins at neXtProt for GAD2: NX_Q05329

Explore proteomics data for GAD2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated; which does not affect kinetic parameters or subcellular location
  • UniProtKB: Palmitoylated; which is required for presynaptic clustering
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q05329

  • 4/20 DME Specific Peptides for GAD2 (Q05329) (see all 20)
     SYDTGDK  YLFQQDK  FTSEHSH  VPFLVSAT 

    GAD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GAD2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000809.1  NP_001127838.1  

    ENSEMBL proteins: 
     ENSP00000365437   ENSP00000259271   ENSP00000390434   ENSP00000365424  
    Reactome Protein details: Q05329
    Human Recombinant Protein Products for GAD2: 
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    Sino Biological Cell Lysate for GAD2 
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    Cloud-Clone Corp. Proteins for GAD2 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0030054cell junction IEA--
    GO:0030424axon IEA--

    GAD2 for ontologies           About GeneDecksing



    GAD2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Glutamic acid decarboxylase 2 
    Decarboxylases

    5 InterPro protein domains:
     IPR002129 PyrdxlP-dep_de-COase
     IPR021115 Pyridoxal-P_BS
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry Q05329

    ProtoNet protein and cluster: Q05329

    UniProtKB/Swiss-Prot: DCE2_HUMAN, Q05329
    Similarity: Belongs to the group II decarboxylase family


    GAD2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DCE2_HUMAN, Q05329
    Function: Catalyzes the production of GABA
    Catalytic activity: L-glutamate = 4-aminobutanoate + CO(2)
    Biophysicochemical properties: Kinetic parameters: KM=2.15 mM for glutamate;

         Genatlas biochemistry entry for GAD2:
    glutamate decarboxylase 2,islet beta cell,65kDa autoantigen in insulin-dependent diabetes mellitus and immunogen
    for autoreactive B cells

         Enzyme Numbers (IUBMB): EC 4.1.1.151 2 EC 4.1.12

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004351glutamate decarboxylase activity IEA--
    GO:0005515protein binding IPI10671565
    GO:0016595glutamate binding IEA--
    GO:0016831carboxy-lyase activity ----
    GO:0030170pyridoxal phosphate binding IEA--
         
    GAD2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GAD2:
     Decreased POU5F1-GFP protein e 

         14 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Gad2):
     behavior/neurological  craniofacial  digestive/alimentary  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 
     no phenotypic analysis  normal  reproductive system  respiratory system 

    GAD2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GAD2: Gad2tm1Bae Gad2tm1Miya Gad2tm1Oba

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GAD2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GAD2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GAD2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GAD2 

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    SwitchGear 3'UTR luciferase reporter plasmidGAD2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAD2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GAD2 About   (see all 17)                                                                                              See pathways by source

    SuperPathContained pathways About
    1GABA A receptor activation
    Synaptic Neurotransmission: GABAergic Inhibition0.45
    GABA signaling in brain0.32
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    3GABA synthesis, release, reuptake and degradation
    GABA synthesis, release, reuptake and degradation0.53
    Neurotransmitter Release Cycle0.53
    4Beta-alanine metabolism
    Beta-alanine metabolism0.90
    5Allograft rejection
    Type I diabetes mellitus0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for GAD2
        Beta-alanine metabolism
    GABA signaling in brain
    Glutamic acid signaling

    1 R&D Systems Pathway for GAD2
        Synaptic Neurotransmission: GABAergic Inhibition


    2 Cell Signaling Technology (CST) Pathways for GAD2
        Neuroscience
    Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for GAD2
        Beta-alanine metabolism

    2 BioSystems Pathways for GAD2
        Biogenic Amine Synthesis
    Alanine and aspartate metabolism


    5        Reactome Pathways for GAD2
        Transmission across Chemical Synapses
    GABA synthesis, release, reuptake and degradation
    Neurotransmitter Release Cycle
    GABA synthesis
    Neuronal System


    5/7         Kegg Pathways  (Kegg details for GAD2) (see all 7):
        Alanine, aspartate and glutamate metabolism
    beta-Alanine metabolism
    Taurine and hypotaurine metabolism
    Butanoate metabolism
    Metabolic pathways


    GAD2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GAD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/48 Interacting proteins for GAD2 (Q053293 ENSP000002592714) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCEQ021563, ENSP000003061244I2D: score=2 STRING: ENSP00000306124
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    ZDHHC17Q8IUH53, ENSP000004033974I2D: score=1 STRING: ENSP00000403397
    F10P007423, ENSP000003647094I2D: score=1 STRING: ENSP00000364709
    GAD1Q992593, ENSP000003509284I2D: score=2 STRING: ENSP00000350928
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006540glutamate decarboxylation to succinate IEA--
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--
    GO:0019752carboxylic acid metabolic process ----
    GO:0042136neurotransmitter biosynthetic process IEA--

    GAD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GAD2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GAD2 (DCE2)

    10/11 HMDB Compounds for GAD2 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Sulfinoalanine3-Sulphino-L-alanine (see all 9)1115-65-7--
    Beta-Alanine2-Carboxyethylamine (see all 21)107-95-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Cysteic acid2-Amino-3-sulfopropionate (see all 19)498-40-8--
    FamotidineAmfamox (see all 83)76824-35-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--
    Hypotaurine2-Aminoethylsulfinate (see all 9)300-84-5--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    1 DrugBank Compound for GAD2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor8499653 17139284 16075246 17016423 10978228

    10/34 Novoseek inferred chemical compound relationships for GAD2 gene (see all 34)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 88.5 308 8243826 (3), 8566695 (2), 11455199 (2), 11561218 (2) (see all 99)
    gaba 75.1 108 17362888 (5), 10441235 (4), 10950838 (3), 8034788 (3) (see all 48)
    c-peptide 61.5 10 18725905 (1), 7926302 (1), 17448127 (1), 9405979 (1) (see all 7)
    pyridoxal 5-phosphate 57.8 22 12535612 (6), 11034389 (2), 9605314 (1), 15686475 (1) (see all 8)
    tyrosine 42.8 32 10480509 (2), 11473034 (2), 10333047 (2), 15829408 (2) (see all 26)
    cysteine sulfinic acid 40.2 1 15070923 (1)
    gliadin 27.9 4 11561218 (3), 19298606 (1)
    mptp 27.2 13 9266773 (4), 8804732 (2), 15882945 (2), 12518298 (1) (see all 5)
    pyridoxal 23.9 2 15381280 (1), 17384644 (1)
    glucose 10.8 17 8504767 (3), 10333047 (3), 20350527 (2), 10950838 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about GAD2 / DCE2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for GAD2 gene (2 alternative transcripts): 
    NM_000818.2  NM_001134366.1  

    Unigene Cluster for GAD2:

    Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
    Hs.231829  [show with all ESTs]
    Unigene Representative Sequence: NM_000818
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376261(uc009xkr.3 uc001isp.2 uc001isq.2) ENST00000259271
    ENST00000428517 ENST00000376248
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AJ251501.1 AK127375.1 BC029517.1 BC126327.1 BC126329.1 M74826.1 M81882.1 X69936.1 

    7 DOTS entries:

    DT.100030691  DT.97813086  DT.309213  DT.40106160  DT.99992369  DT.95271608  DT.97803322 

    24/72 AceView cDNA sequences (see all 72):

    BQ632241 CA868081 CA867379 BM129659 CA773573 BU947707 CA841672 CK902513 
    BM129726 BQ286666 CA866890 BQ271408 BM352037 BQ631948 AJ251501 CA868327 
    BQ288018 BQ270007 AW593824 BQ271116 CA866626 BC029517 CA943538 BI711462 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GAD2 expression in normal human tissues (normalized intensities)      GAD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCAACCTG
    GAD2 Expression
    About this image


    GAD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 33 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             Thalamus
             Forebrain GABA neurons ( Generation of forebrain and spinal gamma-aminobutyric acid...
             striatum   
     
     Eye (Sensory Organs)    fully expand to see all 11 entries
             Dopaminergic Amacrine Cells Inner Nuclear Layer
             Retina
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Telencephalon
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See GAD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GAD2

    SOURCE GeneReport for Unigene cluster: Hs.231829
        SABiosciences Expression via Pathway-Focused PCR Arrays including GAD2: 
              Cell Lineage Identification in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Drug Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GAD2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gad21 , 5 glutamic acid decarboxylase 21, 5 90.09(n)1
    95.73(a)1
      2 (15.15 cM)5
    144171  NM_008078.21  NP_032104.21 
     226222055 
    chicken
    (Gallus gallus)
    Aves GAD21 glutamate decarboxylase 2 (pancreatic islets and brain, more 83.4(n)
    93.27(a)
      395395  XM_418596.3  XP_418596.2 
    lizard
    (Anolis carolinensis)
    Reptilia GAD26
    Uncharacterized protein
    87(a)
    1 ↔ 1
    6(14802068-14844648)
    zebrafish
    (Danio rerio)
    Actinopterygii gad21 glutamate decarboxylase 2 72.86(n)
    79.17(a)
      550403  NM_001017708.2  NP_001017708.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gad13 larval locomotory behavior glutamate
    decarboxylase
    54(a)
    (best of 2)
      64A5   --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-253 Pyridoxal-dependent decarboxylase
    conserved domain
    52(a)   III(13013945-13020998)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GAD2 gene
    DDC2  GAD12  GADL12  HDC2  CSAD2  
    5 SIMAP similar genes for GAD2 using alignment to 5 protein entries:     DCE2_HUMAN (see all proteins):
    GAD65    pcap    GAD1    GADL1    CSAD

    GAD2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2192 SNPs in GAD2 are shown (see all 2192)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1450456661,2
    Cuntested126518625(+) ATGATC/TGCACG 4 I syn11Minor allele frequency- T:0.00NA 4550
    rs2011414591,2
    --26503360(+) AAAAG-/AAAAAA 2 -- us2k10--------
    rs78981971,2
    C,F--26503410(+) TTGGGG/AGTTTT 2 -- us2k12Minor allele frequency- A:0.07NA WA 120
    rs1431694241,2
    C--26503462(+) AACCAC/TTCATC 2 -- us2k10--------
    rs1511322181,2
    --26503585(+) GAGCTC/GCCATG 2 -- us2k10--------
    rs735943221,2
    C--26503594(+) TGCCTG/TAAGTG 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1907598721,2
    --26503638(+) GAGTTA/GTTATT 2 -- us2k10--------
    rs81905821,2
    C,F,A,H--26503735(+) CCTGGA/TACAGA 2 -- us2k1 tfbs39Minor allele frequency- T:0.39NS WA NA CSA EA 546
    rs1133032021,2
    C--26503792(+) CGCCCG/AACTGG 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs28396691,2
    C,F,A,H--26503802(+) GTTTCC/TTGCTC 2 -- us2k115Minor allele frequency- T:0.22EU NS NA WA EA 1412

    HapMap Linkage Disequilibrium report for GAD2 (26505236 - 26593491 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GAD2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv894975CNV Gain21882294


    Human Gene Mutation Database (HGMD): GAD2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 138275    OMIM disorders: --

    20/71 diseases for GAD2 (see all 71):    About MalaCards
    autoimmune polyglandular syndrome type 2    spastic cerebral palsy    congenital rubella    diabetic ketoacidosis
    stiff-person syndrome    rubella    limbic encephalitis    type 1 diabetes
    type 1 diabetes mellitus    paranoid schizophrenia    autoimmune polyendocrine syndrome    cerebral palsy
    endocrine diseases    autoimmune thyroiditis    diabetic neuropathy    autonomic neuropathy
    neuronal ceroid lipofuscinosis    idiopathic generalized epilepsy    anxiety disorder    renal tubular acidosis

    9 diseases from the University of Copenhagen DISEASES database for GAD2:
    Stiff-Person syndrome     Diabetes mellitus     Cerebellar ataxia     Hypersensitivity reaction type II disease
    Schizophrenia     Encephalitis     Huntington's disease     Thyroiditis
    Parkinson's disease

    GAD2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/40 Novoseek inferred disease relationships for GAD2 gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    stiff-man syndrome 88.1 23 7519242 (2), 10753043 (2), 8904930 (2), 14610143 (2) (see all 17)
    diabetes mellitus insulin-dependent 85.8 57 8486775 (3), 7519242 (2), 10596966 (2), 8904930 (2) (see all 47)
    diabetes autoimmune 83.7 24 16734550 (1), 18706702 (1), 12021124 (1), 18487477 (1) (see all 20)
    autoimmunity 79.9 38 16970217 (2), 20016201 (2), 7532577 (2), 10868936 (2) (see all 31)
    autoimmune diseases 66.9 18 20016201 (2), 9253351 (2), 11756577 (1), 10330300 (1) (see all 15)
    autoimmune response 65.9 13 7519242 (1), 17130560 (1), 18706702 (1), 19120313 (1) (see all 12)
    autoimmune syndrome type ii polyglandular 64.2 6 7578849 (3), 12296864 (1)
    coxsackie virus 63.6 8 9498628 (2), 9153283 (1), 9084973 (1), 12021098 (1) (see all 6)
    mimicry 60.2 13 9498628 (3), 9645372 (2), 12021103 (2), 11274421 (1) (see all 9)
    enterovirus infections 59.7 3 15170642 (1), 10459165 (1)

    Genetic Association Database (GAD): GAD2
    Human Genome Epidemiology (HuGE) Navigator: GAD2 (34 documents)

    Export disorders for GAD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GAD2 gene, integrated from 9 sources (see all 472):
    (articles sorted by number of sources associating them with GAD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Differential expression of GAD65 and GAD67 in human, rat, and mouse pancreatic islets. (PubMed id 8243826)1, 2, 9 Kim J.... Baekkeskov S. (1993)
    2. GAD2 on chromosome 10p12 is a candidate gene for human obesity. (PubMed id 14691540)1, 4, 9 Boutin P....Froguel P. (2003)
    3. Mutation screen of the GAD2 gene and association study of alcoholism in three populations. (PubMed id 17034009)1, 4, 9 Lappalainen J....Gelernter J. (2007)
    4. Is glutamate decarboxylase 2 (GAD2) a genetic link between low birth weight and subsequent development of obesity in children? (PubMed id 15671113)1, 4, 9 Meyre D....Froguel P. (2005)
    5. 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. (PubMed id 8088791)1, 2, 9 Bu D.-F. and Tobin A.J. (1994)
    6. GAD2 gene sequence variations are associated with eat ing behaviors and weight gain in women from the Quebec family study. (PubMed id 19686769)1, 4, 9 Choquette A.C....PAcrusse L. (2009)
    7. Cloning and primary structure of a human islet isoform of glutamic acid decarboxylase from chromosome 10. (PubMed id 1924293)1, 2, 9 Karlsen A.E....Lernmark A. (1991)
    8. Lack of support for the association between GAD2 polymorphisms and severe human obesity. (PubMed id 16122350)1, 4, 9 Swarbrick M.M....Vaisse C. (2005)
    9. A combination of three distinct trafficking signals mediates axonal targeting and presynaptic clustering of GAD65. (PubMed id 12356867)1, 2, 9 Kanaani J.... Baekkeskov S. (2002)
    10. A comprehensive, statistically powered analysis of GAD2 in type 1 diabetes. (PubMed id 12196483)1, 4, 9 Johnson G.C....Todd J.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2572 HGNC: 4093 AceView: GAD2 Ensembl:ENSG00000136750 euGenes: HUgn2572
    ECgene: GAD2 Kegg: 2572 H-InvDB: GAD2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GAD2 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/gad2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GAD2 gene:
    Search GeneIP for patents involving GAD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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