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GAD2 (glutamate decarboxylase 2)

Identity

Alias_namesglutamate decarboxylase 2 (pancreatic islets and brain, 65kD)
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
Alias_symbol (synonym)GAD65
Other alias
HGNC (Hugo) GAD2
LocusID (NCBI) 2572
Atlas_Id 42996
Location 10p12.1  [Link to chromosome band 10p12]
Location_base_pair Starts at 26216307 and ends at 26304562 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Stiff-person syndrome


External links

Nomenclature
HGNC (Hugo)GAD2   4093
Cards
Entrez_Gene (NCBI)GAD2  2572  glutamate decarboxylase 2
AliasesGAD65
GeneCards (Weizmann)GAD2
Ensembl hg19 (Hinxton)ENSG00000136750 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136750 [Gene_View]  chr10:26216307-26304562 [Contig_View]  GAD2 [Vega]
ICGC DataPortalENSG00000136750
TCGA cBioPortalGAD2
AceView (NCBI)GAD2
Genatlas (Paris)GAD2
WikiGenes2572
SOURCE (Princeton)GAD2
Genetics Home Reference (NIH)GAD2
Genomic and cartography
GoldenPath hg38 (UCSC)GAD2  -     chr10:26216307-26304562 +  10p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GAD2  -     10p12.1   [Description]    (hg19-Feb_2009)
EnsemblGAD2 - 10p12.1 [CytoView hg19]  GAD2 - 10p12.1 [CytoView hg38]
Mapping of homologs : NCBIGAD2 [Mapview hg19]  GAD2 [Mapview hg38]
OMIM138275   
Gene and transcription
Genbank (Entrez)AJ251501 AK127375 BC029517 BC039038 BC047899
RefSeq transcript (Entrez)NM_000818 NM_001134366
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GAD2
Cluster EST : UnigeneHs.231829 [ NCBI ]
CGAP (NCI)Hs.231829
Alternative Splicing GalleryENSG00000136750
Gene ExpressionGAD2 [ NCBI-GEO ]   GAD2 [ EBI - ARRAY_EXPRESS ]   GAD2 [ SEEK ]   GAD2 [ MEM ]
Gene Expression Viewer (FireBrowse)GAD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2572
GTEX Portal (Tissue expression)GAD2
Human Protein AtlasENSG00000136750-GAD2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05329   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05329  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05329
Splice isoforms : SwissVarQ05329
Catalytic activity : Enzyme4.1.1.15 [ Enzyme-Expasy ]   4.1.1.154.1.1.15 [ IntEnz-EBI ]   4.1.1.15 [ BRENDA ]   4.1.1.15 [ KEGG ]   
PhosPhoSitePlusQ05329
Domaine pattern : Prosite (Expaxy)DDC_GAD_HDC_YDC (PS00392)   
Domains : Interpro (EBI)PyrdxlP-dep_de-COase    PyrdxlP-dep_Trfase    PyrdxlP-dep_Trfase_major_sub1    PyrdxlP-dep_Trfase_major_sub2    Pyridoxal-P_BS   
Domain families : Pfam (Sanger)Pyridoxal_deC (PF00282)   
Domain families : Pfam (NCBI)pfam00282   
Conserved Domain (NCBI)GAD2
DMDM Disease mutations2572
Blocks (Seattle)GAD2
PDB (SRS)1ES0    2OKK   
PDB (PDBSum)1ES0    2OKK   
PDB (IMB)1ES0    2OKK   
PDB (RSDB)1ES0    2OKK   
Structural Biology KnowledgeBase1ES0    2OKK   
SCOP (Structural Classification of Proteins)1ES0    2OKK   
CATH (Classification of proteins structures)1ES0    2OKK   
SuperfamilyQ05329
Human Protein Atlas [tissue]ENSG00000136750-GAD2 [tissue]
Peptide AtlasQ05329
HPRD11817
IPIIPI00012796   IPI00444513   IPI00641751   
Protein Interaction databases
DIP (DOE-UCLA)Q05329
IntAct (EBI)Q05329
FunCoupENSG00000136750
BioGRIDGAD2
STRING (EMBL)GAD2
ZODIACGAD2
Ontologies - Pathways
QuickGOQ05329
Ontology : AmiGOGolgi membrane  glutamate decarboxylase activity  protein binding  cytosol  plasma membrane  glutamate decarboxylation to succinate  chemical synaptic transmission  neurotransmitter secretion  glutamate binding  cell junction  pyridoxal phosphate binding  axon  synaptic vesicle membrane  anchored component of membrane  neurotransmitter biosynthetic process  response to drug  presynaptic membrane  protein heterodimerization activity  perinuclear region of cytoplasm  inhibitory synapse  clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  
Ontology : EGO-EBIGolgi membrane  glutamate decarboxylase activity  protein binding  cytosol  plasma membrane  glutamate decarboxylation to succinate  chemical synaptic transmission  neurotransmitter secretion  glutamate binding  cell junction  pyridoxal phosphate binding  axon  synaptic vesicle membrane  anchored component of membrane  neurotransmitter biosynthetic process  response to drug  presynaptic membrane  protein heterodimerization activity  perinuclear region of cytoplasm  inhibitory synapse  clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    beta-Alanine metabolism    Taurine and hypotaurine metabolism    Butanoate metabolism    GABAergic synapse    Type I diabetes mellitus   
NDEx NetworkGAD2
Atlas of Cancer Signalling NetworkGAD2
Wikipedia pathwaysGAD2
Orthology - Evolution
OrthoDB2572
GeneTree (enSembl)ENSG00000136750
Phylogenetic Trees/Animal Genes : TreeFamGAD2
HOVERGENQ05329
HOGENOMQ05329
Homologs : HomoloGeneGAD2
Homology/Alignments : Family Browser (UCSC)GAD2
Gene fusions - Rearrangements
Tumor Fusion PortalGAD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGAD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GAD2
dbVarGAD2
ClinVarGAD2
1000_GenomesGAD2 
Exome Variant ServerGAD2
ExAC (Exome Aggregation Consortium)ENSG00000136750
GNOMAD BrowserENSG00000136750
Genetic variants : HAPMAP2572
Genomic Variants (DGV)GAD2 [DGVbeta]
DECIPHERGAD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGAD2 
Mutations
ICGC Data PortalGAD2 
TCGA Data PortalGAD2 
Broad Tumor PortalGAD2
OASIS PortalGAD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGAD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGAD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GAD2
DgiDB (Drug Gene Interaction Database)GAD2
DoCM (Curated mutations)GAD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GAD2 (select a term)
intoGenGAD2
Cancer3DGAD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138275   
Orphanet
DisGeNETGAD2
MedgenGAD2
Genetic Testing Registry GAD2
NextProtQ05329 [Medical]
TSGene2572
GENETestsGAD2
Target ValidationGAD2
Huge Navigator GAD2 [HugePedia]
snp3D : Map Gene to Disease2572
BioCentury BCIQGAD2
ClinGenGAD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2572
Chemical/Pharm GKB GenePA28508
Clinical trialGAD2
Miscellaneous
canSAR (ICR)GAD2 (select the gene name)
Probes
Litterature
PubMed107 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGAD2
EVEXGAD2
GoPubMedGAD2
iHOPGAD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:14:06 CET 2017

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