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DDX4 Gene

protein-coding   GIFtS: 56
GCID: GC05P055069

DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 4

(Previous name: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4)
  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)
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Aliases
DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 41 2     DEAD Box Protein 42 3
VASA2 3 5     Probable ATP-Dependent RNA Helicase DDX42
DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 41 2     EC 3.6.4.133
Vasa Homolog2 3     EC 3.6.18

External Ids:    HGNC: 187001   Entrez Gene: 545142   Ensembl: ENSG000001526707   OMIM: 6052815   UniProtKB: Q9NQI03   

Export aliases for DDX4 gene to outside databases

Previous GC identifers: GC05P055195 GC05P056462 GC05P055004 GC05P055049 GC05P055050 GC05P052007


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DDX4 Gene:
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They
are implicated in a number of cellular processes involving alteration of RNA secondary structure such as
translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their
distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis,
and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in
Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes
and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Oct 2009)

GeneCards Summary for DDX4 Gene:
DDX4 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 4) is a protein-coding gene. Diseases associated with DDX4 include aortitis, and spermatocele. GO annotations related to this gene include ATP-dependent helicase activity and nucleic acid binding. An important paralog of this gene is DDX3X.

UniProtKB/Swiss-Prot: DDX4_HUMAN, Q9NQI0
Function: May play a role in germ cell development. May play a role in sperm motility




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DDX4 gene promoter:
         ER-alpha   MEF-2A   FOXF2   POU3F2 (N-Oct-5a)   aMEF-2   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDX4 promoter sequence
   Search Chromatin IP Primers for DDX4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDX4


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

Entrez Gene cytogenetic band: 5p15.2-p13.1   Ensembl cytogenetic band:  5q11.2   HGNC cytogenetic band: 5p15.2-p13.1

DDX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDX4 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P055069:  view genomic region     (about GC identifiers)

Start:
55,033,845 bp from pter      End:
55,112,985 bp from pter
Size:
79,141 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DDX4_HUMAN, Q9NQI0 (See protein sequence)
Recommended Name: Probable ATP-dependent RNA helicase DDX4  
Size: 724 amino acids; 79308 Da
Subunit: Found in a mRNP complex, at least composed of TDRD1, TDRD6, TDRD7 and DDX4. N-terminus interacts with
RANBP9. Interacts with PIWIL2 and MAEL (By similarity)
Secondary accessions: A8K8Q2 B3KSF4 D6RDK4 E9PCD8 Q5M7Z3 Q86VX0 Q9NT92 Q9NYB1
Alternative splicing: 4 isoforms:  Q9NQI0-1   Q9NQI0-2   Q9NQI0-3   Q9NQI0-4   (No experimental confirmation available. Gene prediction based on cDNA data)

Explore the universe of human proteins at neXtProt for DDX4: NX_Q9NQI0

Explore proteomics data for DDX4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DDX4 (Q9NQI0) (see all 24)
     GGYRDGN  NVQHVIN  GINFDKY  DEADRML 


    See DDX4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001136021.1  NP_001160005.1  NP_001160006.1  NP_077726.1  

    ENSEMBL proteins: 
     ENSP00000424838   ENSP00000427167   ENSP00000424779   ENSP00000421960   ENSP00000424112  
     ENSP00000347087   ENSP00000427522   ENSP00000423102   ENSP00000423123   ENSP00000430431  
     ENSP00000334167   ENSP00000425359  

    DDX4 Human Recombinant Protein Products:

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    Novus Biologicals DDX4 Proteins
    Novus Biologicals DDX4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DDX4

    DDX4 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DDX4
    R&D Systems Antibodies for DDX4 (VASA)
    Cell Signaling Technology (CST) Antibodies for DDX4 
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    LSBio Antibodies in human, mouse, rat for DDX4

    DDX4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for DDX4
    Cloud-Clone Corp. CLIAs for DDX4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DDX: DEAD-boxes

    Selected InterPro protein domains (see all 6):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR000629 RNA-helicase_DEAD-box_CS
     IPR027417 P-loop_NTPase
     IPR014014 RNA_helicase_DEAD_Q_motif
     IPR014001 Helicase_ATP-bd

    Graphical View of Domain Structure for InterPro Entry Q9NQI0

    ProtoNet protein and cluster: Q9NQI0

    1 Blocks protein domain: IPB000629 ATP-dependent helicase

    UniProtKB/Swiss-Prot: DDX4_HUMAN, Q9NQI0
    Similarity: Belongs to the DEAD box helicase family. DDX4/VASA subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    DDX4 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DDX4_HUMAN, Q9NQI0
    Function: May play a role in germ cell development. May play a role in sperm motility
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0004386helicase activity ----
    GO:0005524ATP binding IEA--
    GO:0008026ATP-dependent helicase activity IEA--
         
    DDX4 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ddx4):
     cellular  endocrine/exocrine gland  reproductive system 

    DDX4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DDX4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DDX4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DDX4

    miRNA
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    Block miRNA regulation of human, mouse, rat DDX4 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate DDX4:
    hsa-miR-21* hsa-miR-656 hsa-miR-1323 hsa-miR-708* hsa-miR-548o hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidDDX4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DDX4
    Predesigned siRNA for gene silencing in human, mouse, rat DDX4

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for DDX4

    Clone
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    OriGene clones in human, mouse for DDX4 (see all 24)
    OriGene ORF clones in mouse, rat for DDX4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DDX4 (NM_014829)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDX4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDX4

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DDX4_HUMAN, Q9NQI0: Cytoplasm. Cytoplasm, perinuclear region (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0030529ribonucleoprotein complex ----
    GO:0033391chromatoid body IEA--
    GO:0048471perinuclear region of cytoplasm IEA--

    DDX4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for DDX4 About    
    See pathways by source

    SuperPathContained pathways About
    1Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DDX4
        Translational Control



    DDX4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including DDX4: 
              Embryonic Stem Cells in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for DDX4

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

    Selected Interacting proteins for DDX4 (Q9NQI02, 3 ENSP000003470874) via UniProtKB, MINT, STRING, and/or I2D (see all 146)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRCP129312, 3, ENSP000003509414MINT-7302740 I2D: score=1 STRING: ENSP00000350941
    BICD1Q96G013, ENSP000002814744I2D: score=1 STRING: ENSP00000281474
    CARM1Q86X553, ENSP000003256904I2D: score=1 STRING: ENSP00000325690
    PIWIL2Q8TC593, ENSP000003492084I2D: score=1 STRING: ENSP00000349208
    RANBP9Q96S593, ENSP000000116194I2D: score=1 STRING: ENSP00000011619
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007141male meiosis I IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0030317sperm motility IMP--
    GO:0032880regulation of protein localization IEA--

    DDX4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DDX4

    2 Novoseek inferred chemical compound relationships for DDX4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vas-a 92.6 91 18088417 (11), 20123973 (8), 18805576 (7), 11850529 (6) (see all 20)
    atp 1.67 2 16630807 (1), 14747711 (1)



    DDX4 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DDX4 gene (5 alternative transcripts): 
    NM_019039.1  NM_001142549.1  NM_001166533.1  NM_001166534.1  NM_024415.2  

    Unigene Cluster for DDX4:

    DEAD (Asp-Glu-Ala-Asp) box polypeptide 4
    Hs.223581  [show with all ESTs]
    Unigene Representative Sequence: NM_024415
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000505374(uc003jqg.4 uc010ivz.3) ENST00000506511 ENST00000508580
    ENST00000515709 ENST00000506848 ENST00000514679 ENST00000354991 ENST00000511491
    ENST00000503129 ENST00000511853 ENST00000507645 ENST00000509312 ENST00000353507(uc003jqh.4 uc003jqj.3)
    ENST00000514278
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate DDX4:
    hsa-miR-21* hsa-miR-656 hsa-miR-1323 hsa-miR-708* hsa-miR-548o hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidDDX4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DDX4
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DDX4 (NM_014829)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDX4
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DDX4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DDX4
      QuantiTect SYBR Green Assays in human, mouse, rat DDX4
      QuantiFast Probe-based Assays in human, mouse, rat DDX4

    Additional mRNA sequence: 

    AK093439.1 AK292417.1 AK308300.1 AL137462.1 AY004154.1 BC030638.1 BC047455.1 BC088362.1 

    7 DOTS entries:

    DT.120851717  DT.99927731  DT.95167229  DT.95167231  DT.75179347  DT.120851772  DT.120851718 

    Selected AceView cDNA sequences (see all 59):

    CD557531 CD557160 BE550307 BX282689 NM_019039 CD358073 AF262962 AI953070 
    AA383535 AL137462 BE550448 NM_024415 AI337133 AI969018 AA758412 BG717354 
    BG771822 BI463846 CD251828 BI462207 AI217144 AA399611 CD557137 BC030638 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DDX4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGATTAAAGC
    DDX4 Expression
    About this image


    DDX4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Gonad (Reproductive System)    fully expand to see all 12 entries
             Primordial Germ Cells Primitive Gonad
             Fetal Gonadal Stromal Cell
             Human oogonial stem cells
     
     Ovary (Reproductive System)    fully expand to see all 7 entries
             XX Germ Cells Ovigerous Cord
             Ovarian tissue-dissociated cells (human)
             Oocytes
     
     Germ Cells (Reproductive System)    fully expand to see all 4 entries
             Human oogonial stem cells
     
     Testis (Reproductive System)    fully expand to see all 6 entries
             XY Germ Cells Testis Cord
             Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hematopoietic Stem Cells Liver Bud
    DDX4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDX4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.223581

    UniProtKB/Swiss-Prot: DDX4_HUMAN, Q9NQI0
    Tissue specificity: Expressed only in ovary and testis. Expressed in migratory primordial germ cells in the region
    of the gonadal ridge in both sexes

        Pathway & Disease-focused RT2 Profiler PCR Array including DDX4: 
              Embryonic Stem Cells in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX4

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DDX4 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddx41 , 5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41, 5 87.98(n)1
    89.6(a)1
      13 (63.87 cM)5
    132061  NM_001145885.11  NP_001139357.11 
     1125983335 
    chicken
    (Gallus gallus)
    Aves DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 71.37(n)
    69.71(a)
      395447  NM_204708.1  NP_990039.1 
    lizard
    (Anolis carolinensis)
    Reptilia DDX46
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 4
    64(a)
    1 ↔ 1
    2(2332314-2363510)
    African clawed frog
    (Xenopus laevis)
    Amphibia VLG12 DEAD box protein 77.43(n)    AF046043.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vasa2 vasa homolog 74.39(n)   30263  Y12007.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta vas1 , 3 dorsal appendage formation ATP
    dependent helicase3
    vasa1
    51(a)3
    54.39(n)1
    53.1(a)1
      35C13
    348841  NM_001273529.11  NP_001260458.11 
    worm
    (Caenorhabditis elegans)
    Secernentea vbh-13   -- 47(a)
    (best of 7)
      I(3159765-3162284)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DED16
    ATP-dependent DEAD (Asp-Glu-Ala-Asp)-box RNA helic...
    41(a)
    1 → many
    XV(722911-724725) YOR204W


    ENSEMBL Gene Tree for DDX4 (if available)
    TreeFam Gene Tree for DDX4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDX4 gene
    DDX3X2  DDX12  DDX3Y2  
    8 SIMAP similar genes for DDX4 using alignment to 8 protein entries:     DDX4_HUMAN (see all proteins):
    DKFZp686J01190    DDX56    DDX54    EIF4A2    DDX5    DDX3X
    DDX17    DDX3Y

    DDX4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DDX4
    PGOHUM00000235728


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DDX4 (see all 1650)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1904439671,2
    --55031929(+) TTTTTA/TAAAAA 3 -- us2k10--------
    rs573351491,2
    C--55032014(+) AGGAGG/TTTGAG 3 -- us2k14Minor allele frequency- T:0.18CSA WA NA EA 360
    rs1808882191,2
    --55032103(+) ATAAAC/TAAAAA 3 -- us2k10--------
    rs1141031681,2
    C,F--55032107(+) ATAAAA/TAATAT 3 -- us2k11Minor allele frequency- T:0.04WA 118
    rs752184121,2
    C,F--55032243(+) TTTATC/ACTTTA 3 -- us2k11Minor allele frequency- A:0.02NA 120
    rs566647191,2
    --55032432(+) GATCTC/TGGCTC 3 -- us2k10--------
    rs1896984981,2
    --55032619(+) GGCCTC/TCCCAA 3 -- us2k10--------
    rs1488948391,2
    --55032640(+) TACAGA/GCAGAC 3 -- us2k10--------
    rs753038551,2
    C,F--55032679(+) CTACAC/TTTTTA 3 -- us2k13Minor allele frequency- T:0.10CSA WA NA 240
    rs1434552801,2
    C--55032682(+) CACTTC/TTAAAA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for DDX4 (55033845 - 55112985 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for DDX4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4835CNV Insertion18451855
    nsv881699CNV Loss21882294
    nsv830305CNV Loss17160897
    nsv525146CNV Loss19592680
    nsv10698CNV Gain18304495
    nsv830306CNV Gain17160897
    dgv1799e1CNV Complex17122850

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605281    OMIM disorders: --

    11 diseases for DDX4:    
    About MalaCards
    aortitis    spermatocele    diabetic neuropathy    polyneuropathy
    male infertility    azoospermia    infertility    neuropathy
    ovarian cancer    malaria    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for DDX4:
    Male infertility     Infertility

    DDX4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DDX4

    Export disorders for DDX4 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)
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    PubMed articles for DDX4 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with DDX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human VASA gene is specifically expressed in the germ cell lineage. (PubMed id 10920202)1, 2, 3, 9 Castrillon D.H.... Crum C.P. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. VASA is a specific marker for both normal and malignant human germ cells. (PubMed id 11850529)1, 3, 9 Zeeman A.M....Looijenga L.H. ( a journal of technical methods and pathology 2002)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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. (Genome Res. 2004)
    5. Germ cell specific protein VASA is over-expressed in epithelial ovarian cancer and disrupts DNA damage-induced G2 checkpoint. (PubMed id 18805576)1, 9 Hashimoto H....Nishimura R. (Gynecol. Oncol. 2008)
    6. Tissue-specific differentially methylated regions of the human VASA gene are potentially associated with maturation arrest phenotype in the testis. (PubMed id 19629140)1, 9 Sugimoto K....Namiki M. (J. Hum. Genet. 2009)
    7. The infant and pubertal human ovary: Balbiani's body-associated VASA expression, immunohistochemical detection of apoptosis-related BCL2 and BAX proteins, and DNA fragmentation. (PubMed id 23315064)1 Albamonte M.I....Vitullo A.D. (Hum. Reprod. 2013)
    8. Divergent RNA-binding proteins, DAZL and VASA, induce meiotic progression in human germ cells derived in vitro. (PubMed id 22162380)1 Medrano J.V....Reijo Pera R.A. (Stem Cells 2012)
    9. NANOS3 function in human germ cell development. (PubMed id 21421998)2 Julaton V.T. and Reijo Pera R.A. (Hum. Mol. Genet. 2011)
    10. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 54514 HGNC: 18700 AceView: DDX4 Ensembl:ENSG00000152670 euGenes: HUgn54514
    ECgene: DDX4 H-InvDB: DDX4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DDX4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DDX4 gene:
    Search GeneIP for patents involving DDX4

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



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