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

DDX43 Gene

protein-coding   GIFtS: 49
GCID: GC06P074104

DEAD (Asp-Glu-Ala-Asp) box polypeptide 43

 Explore 5 diseases affiliated with
DDX43 via our new
 Human Malady Compendium 
Biological research products
for DDX43
    

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

Aliases
DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 431 2     DEAD Box Protein HAGE2 3
HAGE1 2 3 5     DKFZp434H21141
CT131 2 3     DEAD-Box Protein 432
Cancer/Testis Antigen 132 3     Probable ATP-Dependent RNA Helicase DDX432
Helical Antigen2 3     EC 3.6.4.133
DEAD Box Protein 432 3     EC 3.6.18

External Ids:    HGNC: 186771   Entrez Gene: 555102   Ensembl: ENSG000000800077   OMIM: 6062865   UniProtKB: Q9NXZ23   

Export aliases for DDX43 gene to outside databases

Previous GC identifers: GC06P074054 GC06P074100 GC06P074161 GC06P071302


(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 DDX43:
The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific
expression. (provided by RefSeq, Jul 2008)

Gene Wiki entry for DDX43


(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_000006.11  NC_018917.1  NT_007299.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DDX43 gene promoter:
         ER-alpha   AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDX43 promoter sequence
   Search SABiosciences Chromatin IP Primers for DDX43

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DDX43


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

Entrez Gene cytogenetic band: 6q12-q13   Ensembl cytogenetic band:  6q13   HGNC cytogenetic band: 6q12-q13

DDX43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDX43 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P074104:  view genomic region     (about GC identifiers)

Start:
74,104,285 bp from pter      End:
74,127,292 bp from pter
Size:
23,008 bases      Orientation:
plus 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: DDX43_HUMAN, Q9NXZ2 (See protein sequence)
Recommended Name: Probable ATP-dependent RNA helicase DDX43  
Size: 648 amino acids; 72844 Da
Secondary accessions: Q6NXR1

Explore the universe of human proteins at neXtProt for DDX43: NX_Q9NXZ2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NXZ2

  • 4/11 DME Specific Peptides for DDX43 (Q9NXZ2) (see all 11)
     TPTRELA  TDLASRG  GRTGRAG  DMGFEPQ 

    DDX43 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_061135.2  
    ENSEMBL proteins: 
     ENSP00000359361   ENSP00000441636  

    Human Recombinant Protein Products: 
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    Uscn Proteins for DDX43

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--


    DDX43 for ontologies           About GeneDecksing



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

    DDX43 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR004087 KH_dom
     IPR014014 RNA_helicase_DEAD_Q_motif
     IPR004088 KH_dom_type_1
     IPR000629 RNA-helicase_DEAD-box_CS

    Graphical View of Domain Structure for InterPro Entry Q9NXZ2

    ProtoNet protein and cluster: Q9NXZ2

    2 Blocks protein families:
    IPB000629 ATP-dependent helicase
    IPB004087 KH domain


    UniProtKB/Swiss-Prot: DDX43_HUMAN, Q9NXZ2
    Similarity: Belongs to the DEAD box helicase family
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain
    Similarity: Contains 1 KH 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

    Function Summary:

         UniProtKB/Swiss-Prot: DDX43_HUMAN, Q9NXZ2
    Catalytic activity: ATP + H(2)O = ADP + phosphate

    Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131

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    hsa-miR-3658 hsa-miR-186 hsa-miR-1236 hsa-miR-485-3p hsa-miR-3653 hsa-miR-3133 hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidDDX43 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004004ATP-dependent RNA helicase activity TAS10919659
    GO:0004386helicase activity ----
    GO:0005524ATP binding IEA--


    DDX43 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for DDX43:
     Synthetic lethal with Ras 


    (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 DDX43

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for DDX43 (ENSP000003593614) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DKC1ENSP000003585634STRING: ENSP00000358563
    GAR1ENSP000002267964STRING: ENSP00000226796
    About this table

    (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 DDX43
    Search CenterWatch for drugs/clinical trials and news about DDX43 

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 DDX43 gene: 
    NM_018665.2  

    Unigene Cluster for DDX43:

    DEAD (Asp-Glu-Ala-Asp) box polypeptide 43
    Hs.125507  [show with all ESTs]
    Unigene Representative Sequence: NM_018665
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370336(uc011dyn.1 uc003pgw.3) ENST00000464221 ENST00000479773
    ENST00000539829

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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate DDX43:
    hsa-miR-3658 hsa-miR-186 hsa-miR-1236 hsa-miR-485-3p hsa-miR-3653 hsa-miR-3133 hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidDDX43 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AJ278110.1 AK303324.1 AK313686.1 AL136751.1 BC056879.1 BC066938.1 

    3 DOTS entries:

    DT.400485  DT.121355947  DT.121355885 

    24/29 AceView cDNA sequences (see all 29):

    AI521173 BC056879 BQ020439 CB114540 BU171821 BC066938 BX281294 AA948168 
    AW593728 BV205400 AI637624 BG772793 AI638049 BE144935 AL043701 AI378017 
    BV205399 BX646425 BQ023352 AL136751 NM_018665 AA883800 BG724057 BE907039 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for DDX43    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                          -                                                                                                   
    SP2:                          -           -                                                                                       
    SP3:                                                                                                                              


    ECgene alternative splicing isoforms for DDX43

    (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

    DDX43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image

    DDX43 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleSecondary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DDX43 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DDX43

    SOURCE GeneReport for Unigene cluster: Hs.125507

    UniProtKB/Swiss-Prot: DDX43_HUMAN, Q9NXZ2
    Tissue specificity: Expressed in testis. Expressed in many tumors of various histological types at a level that is
    100-fold higher than the level observed in normal tissues except testis

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    In Situ
    Assay Products:
     

     
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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 eukaryotes.

    Orthologs for DDX43 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DDX431 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 63.02(n)
    60.95(a)
      428637  XM_426195.3  XP_426195.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    59(a)
    1 → many
    GL343341.1(166536-195221)
    zebrafish
    (Danio rerio)
    Actinopterygii ddx436
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 43
    48(a)
    1 → many
    13(27556546-27577923)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG78781 CG7878 52.82(n)
    51.76(a)
      40959  NM_141510.3  NP_649767.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y54G11A.31 Protein Y54G11A.3 49.1(n)
    45.14(a)
      175083  NM_064572.3  NP_496973.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DRH16
    AT5G146106
    (see all 3)
    DEAD-box ATP-dependent RNA helicase 46
    (see all 3)
    29(a)
    25(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    3(212518-216671)
    5(4710563-4715069)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    DEAD-box ATP-dependent RNA helicase 14, putative, ...
    DEAD-box ATP-dependent RNA helicase 40, putative, ...
    (see all 3)
    24(a)
    23(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    1(3712687-3717637)
    1(20521402-20527198)


    ENSEMBL Gene Tree for DDX43 (if available)
    TreeFam Gene Tree for DDX43 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DDX43 gene
    DDX12  DDX412  DDX52  DDX172  DDX532  
    12 SIMAP similar genes for DDX43 using alignment to 2 protein entries:     DDX43_HUMAN (see all proteins):
    DDX53    DDX5    DDX17    DDX4    DDX46    DKFZp686J01190
    EIF4A2    DDX23    DDX42    DDX41    DDX3Y    DDX3X

    DDX43 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for DDX43
    PGOHUM00000235363 PGOHUM00000232685 PGOHUM00000232903


    (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

    10/445 NCBI SNPs in DDX43 are shown (see all 445    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs94468961,2
    --74102459(+) aagcaA/Gttatt 1 -- us2k10--------
    rs1888852941,2
    --74102499(+) ACAGGC/TGCACA 1 -- us2k10--------
    rs93430411,2
    C,A,H,--74102551(+) GGTTTC/TACCAT 1 -- us2k13Minor allele frequency- T:0.17NA WA 6
    rs93504961,2
    C,A,H,--74102597(+) ATCCAC/GCCGCC 1 -- us2k15Minor allele frequency- G:0.00NA WA CSA 9
    rs122051471,2
    C,--74102649(+) catccA/TgccAA 1 -- us2k13Minor allele frequency- T:0.04NA EA 242
    rs5264161,2
    C,F,A,H,--74102745(+) CTCACG/ATTCCC 1 -- us2k110Minor allele frequency- A:0.32NA WA CSA EA 372
    rs1813634111,2
    --74102763(+) TGGGAC/TTACAG 1 -- us2k10--------
    rs1150334711,2
    F,--74102957(+) CACCTC/TAGCCT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1385620961,2
    C,--74103007(+) CAGGG-/TTCTCA 1 -- us2k10--------
    rs1866460641,2
    --74103054(+) AAGAGA/GTCCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DDX43 (74104285 - 74127292 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DDX43: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DDX43
    DNA2.0 Custom Variant and Variant Library Synthesis for DDX43

    (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

    DDX43 for disorders           About GeneDecksing

    OMIM gene information: 606286    OMIM disorders: --

    5 diseases for DDX43:    About MalaCards
    chronic myeloid leukemia    myeloid leukemia    leukemia    sarcoma
    melanoma


    Export disorders for DDX43 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 DDX43 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with DDX43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification on a human sarcoma of two new genes with tumor- specific expression. (PubMed id 10919659)1, 2, 3, 9 Martelange V.M.F.... Boon T. (2000)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    4. Aberrant hypomethylation of DDX43 promoter in myelodys plastic syndrome. (PubMed id 22563673)1 Chen Q....Li Y. (2012)
    5. The helicase HAGE expressed by malignant melanoma-init iating cells is required for tumor cell proliferation in vivo. (PubMed id 22393060)1 Linley A.J....Regad T. (2012)
    6. Gene expression of helicase antigen in patients with a cute and chronic myeloid leukemia. (PubMed id 22040965)1 Chen Q....Xiao G.F. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. HAGE, a cancer/testis antigen expressed at the protei n level in a variety of cancers. (PubMed id 20058853)1 Mathieu M.G....McArdle S.E. (2010)
    9. Epigenetic regulation of human cancer/testis antigen gene, HAGE, in chronic myeloid leukemia. (PubMed id 17296563)1 Roman-Gomez J....Torres A. (2007)
    10. HAGE, a cancer/testis antigen with potential for melanoma immunotherapy: identification of several MHC class I/II HAGE-derived immunogenic peptides. (PubMed id 17487488)1 Mathieu M.G....McArdle S.E. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55510 HGNC: 18677 AceView: DDX43 Ensembl:ENSG00000080007 euGenes: HUgn55510
    ECgene: DDX43 H-InvDB: DDX43

    (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 DDX43 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DDX43 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 DDX43 gene:
    Search GeneIP for patents involving DDX43

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



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