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

GDAP2 Gene

protein-coding   GIFtS: 47
GCID: GC01M118406

ganglioside induced differentiation associated protein 2

 Explore 2 diseases affiliated with
GDAP2 via our new
 Human Malady Compendium 
Biological research products
for GDAP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ganglioside Induced Differentiation Associated Protein 21 2
MACROD31 2
DJ776P7.11
FLJ201421
Ganglioside-Induced Differentiation-Associated Protein 22

External Ids:    HGNC: 180101   Entrez Gene: 548342   Ensembl: ENSG000001965057   UniProtKB: Q9NXN43   

Export aliases for GDAP2 gene to outside databases

Previous GC identifers: GC01M118870 GC01M117249 GC01M117559 GC01M117758 GC01M118124 GC01M118213 GC01M116262


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GDAP2 gene promoter:
         Max1   AML1a   FOXD3   HNF-4alpha1   Roaz   GATA-1   HEN1   Pax-3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGDAP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GDAP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GDAP2


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

Entrez Gene cytogenetic band: 1p12   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1q11

GDAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GDAP2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M118406:  view genomic region     (about GC identifiers)

Start:
118,406,107 bp from pter      End:
118,472,302 bp from pter
Size:
66,196 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GDAP2_HUMAN, Q9NXN4 (See protein sequence)
Recommended Name: Ganglioside-induced differentiation-associated protein 2  
Size: 497 amino acids; 56225 Da
Secondary accessions: Q96DZ0
Alternative splicing: 2 isoforms:  Q9NXN4-1   Q9NXN4-2   

Explore the universe of human proteins at neXtProt for GDAP2: NX_Q9NXN4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NXN4

  • GDAP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129061.1  NP_060156.1  

    ENSEMBL proteins: 
     ENSP00000358451   ENSP00000358450  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GDAP2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001251 CRAL-TRIO_dom
     IPR002589 A1pp

    Graphical View of Domain Structure for InterPro Entry Q9NXN4

    ProtoNet protein and cluster: Q9NXN4

    1 Blocks protein family: IPB002589 Protein of unknown function Appr-1

    UniProtKB/Swiss-Prot: GDAP2_HUMAN, Q9NXN4
    Similarity: Belongs to the GDAP2 family
    Similarity: Contains 1 CRAL-TRIO domain
    Similarity: Contains 1 Macro domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-607 hsa-miR-300 hsa-miR-578 hsa-miR-149 hsa-miR-4293 hsa-miR-455-5p hsa-miR-130a* hsa-miR-23c
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GDAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/20 Interacting proteins for GDAP2 (Q9NXN43 ENSP000003584514) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C12orf4Q9NQ893I2D: score=2 
    ACOT7ENSP000003670864STRING: ENSP00000367086
    AKR7A2ENSP000002358354STRING: ENSP00000235835
    ARTNENSP000003919984STRING: ENSP00000391998
    ENSG00000231041ENSP000004106354STRING: ENSP00000410635
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032526response to retinoic acid IEA--


    GDAP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GDAP2
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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GDAP2 gene (2 alternative transcripts): 
    NM_001135589.1  NM_017686.3  

    Unigene Cluster for GDAP2:

    Ganglioside induced differentiation associated protein 2
    Hs.594430  [show with all ESTs]
    Unigene Representative Sequence: NM_017686
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369443(uc001ehf.3) ENST00000491626 ENST00000369442(uc001ehg.3)
    ENST00000464026 ENST00000493555 ENST00000494224

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    8/77 QIAGEN miScript miRNA Assays for microRNAs that regulate GDAP2 (see all 77):
    hsa-miR-607 hsa-miR-300 hsa-miR-578 hsa-miR-149 hsa-miR-4293 hsa-miR-455-5p hsa-miR-130a* hsa-miR-23c
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK000149.1 BC013132.1 BC013324.1 BX647355.1 

    15 DOTS entries:

    DT.302646  DT.405566  DT.95204507  DT.108555  DT.75163720  DT.100060953  DT.100728323  DT.121463810 
    DT.206491  DT.40216038  DT.97776638  DT.97840091  DT.100807858  DT.100856937  DT.91915546 

    24/77 AceView cDNA sequences (see all 77):

    BX097755 BU172470 AI093725 CB215945 BM974974 BE552139 AI189593 CR608212 
    BC013132 CN481299 CN479023 AI589069 AA281184 CR601966 AI373061 BM462998 
    AA788854 AI125031 BM459136 BG252723 AA281062 BP351406 BX362126 BP380501 

    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

    GDAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAGATTGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See GDAP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GDAP2

    SOURCE GeneReport for Unigene cluster: Hs.594430
        SABiosciences Custom PCR Arrays for GDAP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDAP2

    (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 last universal common ancestor (LUCA).

    Orthologs for GDAP2 gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves GDAP21 ganglioside induced differentiation associated protein more 77.8(n)
    86.12(a)
      425913  XM_423602.3  XP_423602.3 
    lizard
    (Anolis carolinensis)
    Reptilia GDAP26
    --
    80(a)
    1 ↔ 1
    GL343218.1(915916-933332)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.257462 Xenopus laevis transcribed sequence with moderate similarity more 75.59(n)    48027994 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.44182 Transcribed sequence with weak similarity to protein more 73.12(n)    CK028217.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG188121 , 3 CG188121 43(a)
    (best of 2)3
    50.03(n)1
    43.61(a)1
      591731  NM_165552.31  NP_724597.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G693401 appr-1-p processing enzyme-like protein 46.67(n)
    37.92(a)
      843266  NM_105601.3  NP_564960.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g04444001 hypothetical protein 47.32(n)
    38.78(a)
      4348739  NM_001071241.1  NP_001064706.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria ymdB6
    O-acetyl-ADP-ribose deacetylase; RNase III inhibit...
    30(a)
    possible ortholog
    Chromosome(1105043-1105576)


    ENSEMBL Gene Tree for GDAP2 (if available)
    TreeFam Gene Tree for GDAP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GDAP2 gene
    MACROD22  MACROD12  

    GDAP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/976 NCBI SNPs in GDAP2 are shown (see all 976    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs741130641,2
    C,--118405752(+) TGGAGT/CAGTTT 1 -- ds50012Minor allele frequency- C:0.08WA 120
    rs759213571,2
    F,--118405930(+) GATGTT/ATTACA 1 -- ds50011Minor allele frequency- A:0.03NA 120
    rs2015539091,2
    --118405994(+) CTGAT-/GGGGGG 1 -- ds50010--------
    rs1432188371,2
    --118406078(+) ATGCAA/TGAGAA 1 -- ds50010--------
    rs785520411,2
    --118406197(+) ACATCA/GTACAA 1 -- ut313Minor allele frequency- G:0.03CSA NA EA 242
    rs13711,2
    C,F,O,H,--118406208(+) TTTTTA/CAAAGG 1 -- ut3116Minor allele frequency- C:0.06MN NS EA NA WA 2316
    rs1462155501,2
    --118406272(+) TGAGAA/CAATAT 1 -- ut310--------
    rs118041341,2
    C,H,--118406467(+) TATTAA/TTTCTA 1 -- ut311Minor allele frequency- T:0.00NA 2
    rs1917713111,2
    --118406594(+) ACTGAA/GGTTCA 1 -- ut310--------
    rs767583911,2
    F,--118406700(+) CATGCA/GAAATC 1 -- ut312Minor allele frequency- G:0.03NA EA 240

    HapMap Linkage Disequilibrium report for GDAP2 (118406107 - 118472302 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for GDAP2
         2 CNVs: 97481 47888

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GDAP2 for disorders           About GeneDecksing

    2 diseases for GDAP2:    About MalaCards
    tuberculosis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: GDAP2 (1 document)

    Export disorders for GDAP2 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 GDAP2 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with GDAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    2. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    3. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 54834 HGNC: 18010 AceView: GDAP2 Ensembl:ENSG00000196505 euGenes: HUgn54834
    ECgene: GDAP2 H-InvDB: GDAP2

    (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 GDAP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GDAP2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GDAP2 gene:
    Search GeneIP for patents involving GDAP2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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