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DHX40 Gene

protein-coding   GIFtS: 51
GCID: GC17P057642

DEAH (Asp-Glu-Ala-His) Box Polypeptide 40

(Previous name: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase))
(Previous symbol: DDX40)
  See related disease
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
DEAH (Asp-Glu-Ala-His) Box Polypeptide 401 2     Probable ATP-Dependent RNA Helicase DHX402
DDX401 2 3 5     EC 3.6.4.133
DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 40 (RNA Helicase)1 2     Protein PAD3
DEAH Box Protein 402 3     EC 3.6.18
PAD2     

External Ids:    HGNC: 180181   Entrez Gene: 796652   Ensembl: ENSG000001084067   OMIM: 6075705   UniProtKB: Q8IX183   

Export aliases for DHX40 gene to outside databases

Previous GC identifers: GC17P057984 GC17P058117 GC17P054997 GC17P053003


(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 DHX40 Gene:
This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in
RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on
chromosome 17.(provided by RefSeq, Oct 2009)

GeneCards Summary for DHX40 Gene:
DHX40 (DEAH (Asp-Glu-Ala-His) box polypeptide 40) is a protein-coding gene. Diseases associated with DHX40 include norum disease. GO annotations related to this gene include ATP-dependent helicase activity and nucleic acid binding. An important paralog of this gene is DHX38.

UniProtKB/Swiss-Prot: DHX40_HUMAN, Q8IX18
Function: Probable ATP-dependent RNA helicase (By similarity)




(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_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHX40 gene promoter:
         MEF-2A   POU2F1   FOXF2   NRSF form 1   POU2F1a   aMEF-2   NRSF form 2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDHX40 promoter sequence
   Search Chromatin IP Primers for DHX40

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHX40


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

Entrez Gene cytogenetic band: 17q23.1   Ensembl cytogenetic band:  17q23.1   HGNC cytogenetic band: 17q22

DHX40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHX40 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P057642:  view genomic region     (about GC identifiers)

Start:
57,642,886 bp from pter      End:
57,685,713 bp from pter
Size:
42,828 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DHX40_HUMAN, Q8IX18 (See protein sequence)
Recommended Name: Probable ATP-dependent RNA helicase DHX40  
Size: 779 amino acids; 88560 Da
Sequence caution: Sequence=AAF70326.1; Type=Frameshift; Positions=758; Sequence=AAK32122.1; Type=Erroneous
initiation; Sequence=BAB15226.1; Type=Erroneous initiation;
Secondary accessions: B3KTJ5 C9JR60 Q5JPH4 Q8TC86 Q8WY53 Q9BXM1 Q9H6M9
Alternative splicing: 4 isoforms:  Q8IX18-1   Q8IX18-2   Q8IX18-3   Q8IX18-4   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for DHX40: NX_Q8IX18

Explore proteomics data for DHX40 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys387
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DHX40 (Q8IX18) (see all 8)
     TDILFGL  IKYMTDG  LDEAHERT  DEAHERTL 


    See DHX40 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159773.1  NP_078888.4  

    ENSEMBL proteins: 
     ENSP00000251241   ENSP00000462702   ENSP00000462246   ENSP00000388749   ENSP00000463025  
     ENSP00000462686   ENSP00000437958   ENSP00000396039  

    DHX40 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for DHX40
    OriGene Protein Over-expression Lysate for DHX40
    OriGene MassSpec for DHX40
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    GenScript Custom Purified and Recombinant Proteins Services for DHX40
    Novus Biologicals DHX40 Protein
    Novus Biologicals DHX40 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DHX40

    DHX40 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for DHX40
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    Search ThermoFisher Antibodies for DHX40
    LSBio Antibodies in human, mouse, rat for DHX40

    DHX40 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for DHX40
    Cloud-Clone Corp. CLIAs for DHX40


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

    Selected InterPro protein domains (see all 7):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR002464 DNA/RNA_helicase_DEAH_CS
     IPR007502 Helicase-assoc_dom
     IPR011709 DUF1605
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q8IX18

    ProtoNet protein and cluster: Q8IX18

    2 Blocks protein domains:
    IPB002464 ATP-dependent helicase
    IPB007502 Helicase-associated region


    UniProtKB/Swiss-Prot: DHX40_HUMAN, Q8IX18
    Similarity: Belongs to the DEAD box helicase family. DEAH subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    DHX40 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: DHX40_HUMAN, Q8IX18
    Function: Probable ATP-dependent RNA helicase (By similarity)
    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--
         
    DHX40 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DHX40:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 

         1 MGI phenotypic allele for Dhx40 (no phenotypes)

    DHX40 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DHX40
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DHX40

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DHX40
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DHX40

    miRNA
    Products:
        
    miRTarBase miRNAs that target DHX40:
    hsa-mir-155-5p (MIRT001554), hsa-mir-29b-2-5p (MIRT038708), hsa-mir-484 (MIRT042075)

    Block miRNA regulation of human, mouse, rat DHX40 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DHX40 (see all 46):
    hsa-miR-300 hsa-miR-624 hsa-miR-30d hsa-miR-3142 hsa-miR-30a hsa-miR-9 hsa-miR-186 hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidDHX40 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DHX40
    Predesigned siRNA for gene silencing in human, mouse, rat DHX40

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DHX40

    Clone
    Products:
         
    OriGene clones in human, mouse for DHX40 (see all 10)
    OriGene ORF clones in mouse, rat for DHX40
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DHX40 (NM_024612)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DHX40
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHX40

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for DHX40
    Browse ESI BIO Cell Lines and PureStem Progenitors for DHX40 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHX40


    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DHX40
    Interactions:

        Search GeneGlobe Interaction Network for DHX40

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

    Selected Interacting proteins for DHX40 (Q8IX183 ENSP000002512414) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    G3BP1Q132833, ENSP000003485784I2D: score=2 STRING: ENSP00000348578
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    ATG101Q9BSB43I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    CDC5LENSP000003605324STRING: ENSP00000360532
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----

    DHX40 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 DHX40



    (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,
    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 DHX40 gene (2 alternative transcripts): 
    NM_001166301.1  NM_024612.4  

    Unigene Cluster for DHX40:

    DEAH (Asp-Glu-Ala-His) box polypeptide 40
    Hs.29403  [show with all ESTs]
    Unigene Representative Sequence: AF260270
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251241(uc002ixn.2 uc010woe.2 uc002ixo.1 uc010wof.2)
    ENST00000580218 ENST00000577596 ENST00000425628 ENST00000584385 ENST00000580030
    ENST00000538926 ENST00000583439 ENST00000578204 ENST00000577549 ENST00000451169

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DHX40 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DHX40 (see all 46):
    hsa-miR-300 hsa-miR-624 hsa-miR-30d hsa-miR-3142 hsa-miR-30a hsa-miR-9 hsa-miR-186 hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidDHX40 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DHX40
    Predesigned siRNA for gene silencing in human, mouse, rat DHX40
    Clone
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    OriGene clones in human, mouse for DHX40 (see all 10)
    OriGene ORF clones in mouse, rat for DHX40
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DHX40 (NM_024612)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DHX40
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHX40
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DHX40
    OriGene qSTAR qPCR primer pairs in human, mouse for DHX40
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DHX40
      QuantiTect SYBR Green Assays in human, mouse, rat DHX40
      QuantiFast Probe-based Assays in human, mouse, rat DHX40

    Additional mRNA sequence: 

    AF260270.1 AF319521.1 AF461690.1 AK025713.1 AK091334.1 AK095681.1 AK123683.1 AK225268.1 
    AK225344.1 AK226048.1 AK299151.1 AL832510.1 BC024187.2 

    21 DOTS entries:

    DT.443082  DT.100818897  DT.120930692  DT.101978024  DT.100818898  DT.95075806  DT.95075792  DT.120930715 
    DT.120930739  DT.120930774  DT.40130219  DT.120930412  DT.120930454  DT.91762317  DT.91762319  DT.95234686 
    DT.95307146  DT.97779333  DT.97823168  DT.100027294  DT.91936060 

    Selected AceView cDNA sequences (see all 212):

    BI829076 BM893777 BF430931 AI016103 AA744748 AI373898 BM474414 CK823395 
    BE884360 BQ008521 AF461690 AI675355 AA337146 AW511602 AA424923 AL832510 
    AA364218 AK091334 BF108731 AI753161 BU181288 BE349228 BU686096 AA897107 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DHX40 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
    SP1:                                                                                            -                                 
    SP2:                    -           -                                                                                             
    SP3:                    -                                                                                                         
    SP4:                                                                                                                              
    SP5:                                                                                            -                                 


    ECgene alternative splicing isoforms for DHX40

    (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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    DHX40 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCTAGCAT
    DHX40 Expression
    About this image

    DHX40 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DHX40 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.29403

    UniProtKB/Swiss-Prot: DHX40_HUMAN, Q8IX18
    Tissue specificity: Ubiquitously expressed

        Custom PCR Arrays for DHX40
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    QuantiTect SYBR Green Assays in human, mouse, rat DHX40
    QuantiFast Probe-based Assays in human, mouse, rat DHX40
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHX40

    (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 DHX40 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dhx401 , 5 DEAH (Asp-Glu-Ala-His) box polypeptide 401, 5 91.57(n)1
    97.56(a)1
      11 (51.82 cM)5
    674871  NM_026191.21  NP_080467.31 
     867688465 
    chicken
    (Gallus gallus)
    Aves DHX401 DEAH (Asp-Glu-Ala-His) box polypeptide 40 70.63(n)
    71.68(a)
      772090  XM_001235277.2  XP_001235278.1 
    lizard
    (Anolis carolinensis)
    Reptilia DHX406
    DEAH (Asp-Glu-Ala-His) box polypeptide 40
    67(a)
    1 ↔ 1
    GL343470.1(395662-415829)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.213022 Xenopus laevis transcribed sequence with weak similarity more 69.53(n)    BU911993.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dhx401 DEAH (Asp-Glu-Ala-His) box polypeptide 40 65.02(n)
    66.53(a)
      570225  XM_693677.5  XP_698769.4 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRP166
    DEAH-box RNA helicase involved in second catalytic...
    24(a)
    1 → many
    XI(599857-603072) YKR086W


    ENSEMBL Gene Tree for DHX40 (if available)
    TreeFam Gene Tree for DHX40 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DHX40 gene
    DHX382  
    10 SIMAP similar genes for DHX40 using alignment to 8 protein entries:     DHX40_HUMAN (see all proteins):
    DHX8    DHX35    DHX38    DHX15    DHX34    DHX16
    DQX1    DHX36    DKFZp762F2011    DHX33

    DHX40 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DHX40
    PGOHUM00000262959


    (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 DHX40 (see all 665)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1402642301,2
    --53023762(+) TATTTA/CAGAAG 1 -- us2k10--------
    rs1503435941,2
    --53023828(+) CGAGGC/TGGGCG 1 -- us2k10--------
    rs1910852281,2
    --53023829(+) GAGGCA/GGGCGG 1 -- us2k10--------
    rs1382359321,2
    C--53024044(+) CAGAGC/TGAGAC 1 -- us2k10--------
    rs1821137611,2
    --53024098(+) TATAAC/TTTTCA 1 -- us2k10--------
    rs3713885511,2
    C--53024117(+) TAATAC/TTTCTC 1 -- us2k10--------
    rs1866897781,2
    --53025167(-) CCATCA/GAGGAT 2 L syn10--------
    rs2010185981,2
    C,F--53025209(-) TTACCA/TGTTGT 2 T syn11Minor allele frequency- T:0.00EU 591
    rs1429537781,2
    --53025620(-) CACTGC/TGTTTA 1 -- int10--------
    rs2020520831,2
    C--53035752(+) TATAA-/TTTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for DHX40 (57642886 - 57685713 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DHX40: --
    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607570    OMIM disorders: --

    1 disease for DHX40:    
    About MalaCards
    norum disease

    1 disease from the University of Copenhagen DISEASES database for DHX40:
    Norum disease

    DHX40 for disorders           About GeneDecksing


    Export disorders for DHX40 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 DHX40 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with DHX40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel human DDX40 gene, a new member of the DEAH- box protein family. (PubMed id 12522690)1, 2, 9 Xu J.... Mao Y. (J. Hum. Genet. 2002)
    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. (Genome Res. 2004)
    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. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. 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)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 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: 79665 HGNC: 18018 AceView: DHX40 Ensembl:ENSG00000108406 euGenes: HUgn79665
    ECgene: DHX40 H-InvDB: DHX40

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for DHX40 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 DHX40 gene:
    Search GeneIP for patents involving DHX40

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



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