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CDC40 Gene

protein-coding   GIFtS: 62
GCID: GC06P110501

Cell Division Cycle 40

(Previous names: cell division cycle 40 homolog (yeast), cell division cycle...)
  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
Cell Division Cycle 401 2     PRP17 Homolog2 3
PRP172 3 5     Cell Division Cycle 40 Homolog (S. Cerevisiae)1
Cell Division Cycle 40 Homolog2 3     Cell Division Cycle 40 Homolog (Yeast)1
EHB32 3     Pre-MRNA Splicing Factor 172
PRPF172 3     Pre-MRNA-Processing Factor 172
EH-Binding Protein 32 3     Ehb33
hPRP172 3     

External Ids:    HGNC: 173501   Entrez Gene: 513622   Ensembl: ENSG000001684387   OMIM: 6055855   UniProtKB: O605083   

Export aliases for CDC40 gene to outside databases

Previous GC identifers: GC06P110547 GC06P110608 GC06P108068


(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 CDC40 Gene:
Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to
be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains
seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast
Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression.
It suggests that this protein may play a role in cell cycle progression. (provided by RefSeq, Jul 2008)

GeneCards Summary for CDC40 Gene:
CDC40 (cell division cycle 40) is a protein-coding gene. Diseases associated with CDC40 include choroiditis, and malaria. An important paralog of this gene is WDR25.

UniProtKB/Swiss-Prot: PRP17_HUMAN, O60508
Function: Associates with the spliceosome late in the splicing pathway and may function in the second step of
pre-mRNA splicing

Gene Wiki entry for CDC40 Gene


(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_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDC40 gene promoter:
         HFH-3   Nkx2-5   Evi-1   AREB6   FOXI1   S8   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDC40 promoter sequence
   Search Chromatin IP Primers for CDC40

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDC40


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

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q22.1

CDC40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDC40 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P110501:  view genomic region     (about GC identifiers)

Start:
110,501,344 bp from pter      End:
110,575,478 bp from pter
Size:
74,135 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: PRP17_HUMAN, O60508 (See protein sequence)
Recommended Name: Pre-mRNA-processing factor 17  
Size: 579 amino acids; 65521 Da
Subunit: Identified in the spliceosome C complex
Sequence caution: Sequence=AAC25166.1; Type=Erroneous initiation;
Secondary accessions: B2RBC5 O75471 Q5SRN0 Q9UPG1

Explore the universe of human proteins at neXtProt for CDC40: NX_O60508

Explore proteomics data for CDC40 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CDC40 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056975.1  
    ENSEMBL proteins: 
     ENSP00000357928   ENSP00000357926   ENSP00000304370  
    Reactome Protein details: O60508

    CDC40 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CDC40
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    OriGene Custom Protein Services for CDC40
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    Novus Biologicals CDC40 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for CDC40

    CDC40 Antibody Products:

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    CDC40 Assay Products:

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    Cloud-Clone Corp. ELISAs for CDC40
    Cloud-Clone Corp. CLIAs for CDC40


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry O60508

    ProtoNet protein and cluster: O60508

    1 Blocks protein domain: IPB001680 G-protein beta WD-40 repeat signature

    UniProtKB/Swiss-Prot: PRP17_HUMAN, O60508
    Similarity: Contains 7 WD repeats


    CDC40 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: PRP17_HUMAN, O60508
    Function: Associates with the spliceosome late in the splicing pathway and may function in the second step of
    pre-mRNA splicing

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0044822poly(A) RNA binding IDA--
         
    CDC40 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CDC40:
     Decreased viability of wild-ty  Increased HPV18 LCR reporter a  Increased cell number in G2M,   Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CDC40
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CDC40

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CDC40
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CDC40

    miRNA
    Products:
        
    miRTarBase miRNAs that target CDC40:
    hsa-mir-155-5p (MIRT020923)

    Block miRNA regulation of human, mouse, rat CDC40 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CDC40 (see all 45):
    hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-3916 hsa-miR-372 hsa-miR-93 hsa-miR-3613-3p hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidCDC40 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CDC40
    Predesigned siRNA for gene silencing in human, mouse, rat CDC40

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for CDC40

    Clone
    Products:
         
    OriGene clones in human, mouse for CDC40 (see all 6)
    OriGene ORF clones in mouse, rat for CDC40
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CDC40 (NM_015891)
    Sino Biological Human cDNA Clone for CDC40
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CDC40
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDC40

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CDC40
    Browse ESI BIO Cell Lines and PureStem Progenitors for CDC40 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDC40


    (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
    PRP17_HUMAN, O60508: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex TAS9524131
    GO:0071013catalytic step 2 spliceosome IDA11991638

    CDC40 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 CDC40 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA processing0.44
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.80
    mRNA 3-end processing0.80
    Cleavage of Growing Transcript in the Termination Region0.80
    3Transport of Mature Transcript to Cytoplasm
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93
    Transport of Mature Transcript to Cytoplasm0.93
    4Formation of RNA Pol II elongation complex
    RNA Polymerase II Transcription0.60
    5Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CDC40
        mRNA processing


    4 Reactome Pathways for CDC40
        mRNA Splicing - Major Pathway
    Transport of Mature mRNA derived from an Intron-Containing Transcript
    mRNA 3'-end processing
    Cleavage of Growing Transcript in the Termination Region


    1 Kegg Pathway  (Kegg details for CDC40):
        Spliceosome


    CDC40 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CDC40
    Interactions:

        Search GeneGlobe Interaction Network for CDC40

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

    Selected Interacting proteins for CDC40 (O605081, 2, 3 ENSP000003043704) via UniProtKB, MINT, STRING, and/or I2D (see all 296)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF19Q9UMS41, 2, ENSP000002275244EBI-2557812,EBI-395746 MINT-8331613 MINT-8336738 STRING: ENSP00000227524
    CDC5LQ994593, ENSP000003605324I2D: score=4 STRING: ENSP00000360532
    SMAD2Q157963, ENSP000002621604I2D: score=4 STRING: ENSP00000262160
    CWC22Q9HCG83, ENSP000003870064I2D: score=2 STRING: ENSP00000387006
    NCBP2P522983, ENSP000003268064I2D: score=2 STRING: ENSP00000326806
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006406mRNA export from nucleus TAS--
    GO:0008380RNA splicing TAS--

    CDC40 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 CDC40 (PRP17)



    (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 CDC40 gene: 
    NM_015891.2  

    Unigene Cluster for CDC40:

    Cell division cycle 40
    Hs.428147  [show with all ESTs]
    Unigene Representative Sequence: NM_015891
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000606893 ENST00000368932(uc003pua.3) ENST00000368930 ENST00000453107
    ENST00000431461 ENST00000445340 ENST00000307731
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CDC40 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CDC40 (see all 45):
    hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-3916 hsa-miR-372 hsa-miR-93 hsa-miR-3613-3p hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidCDC40 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CDC40
    Predesigned siRNA for gene silencing in human, mouse, rat CDC40
    Clone
    Products:
         
    OriGene clones in human, mouse for CDC40 (see all 6)
    OriGene ORF clones in mouse, rat for CDC40
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CDC40 (NM_015891)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CDC40
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDC40
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CDC40
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CDC40
      QuantiTect SYBR Green Assays in human, mouse, rat CDC40
      QuantiFast Probe-based Assays in human, mouse, rat CDC40

    Additional mRNA sequence: 

    AB208903.1 AF015044.1 AF038392.1 AF061241.1 AK001426.1 AK222721.1 AK295055.1 AK314601.1 
    BC111061.1 BC117145.1 BC126114.1 

    12 DOTS entries:

    DT.455982  DT.100766229  DT.99983647  DT.99994564  DT.121316072  DT.40122678  DT.95365532  DT.121322821 
    DT.91731463  DT.95365534  DT.101971553  DT.75151231 

    Selected AceView cDNA sequences (see all 148):

    AK001426 BM682197 BU736054 BF197878 AA036973 BU177035 AW150046 AA886247 
    AI206858 CA841265 BM710627 BG675717 BU189526 AI689254 AA669318 BM312466 
    CA841004 AA984455 AF038392 BG565484 AI001760 AI217641 AA931510 CA412816 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CDC40    About this scheme

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


    ECgene alternative splicing isoforms for CDC40

    (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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    CDC40 expression in normal human tissues (normalized intensities)      CDC40 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCTTGCTG
    CDC40 Expression
    About this image


    CDC40 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Choroid Plexus
    CDC40 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDC40 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.428147
        Custom PCR Arrays for CDC40
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CDC40
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CDC40
    QuantiTect SYBR Green Assays in human, mouse, rat CDC40
    QuantiFast Probe-based Assays in human, mouse, rat CDC40
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDC40

    (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 eukaryotes.

    Orthologs for CDC40 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdc401 , 5 cell division cycle 40 homolog (yeast)5
    cell division cycle 401
    91.82(n)1
    98.79(a)1
      10 (22.06 cM)5
    717131  NM_027879.21  NP_082155.11 
     408316265 
    chicken
    (Gallus gallus)
    Aves CDC401 cell division cycle 40 homolog (S. cerevisiae) 81.72(n)
    92.69(a)
      421760  NM_001006407.1  NP_001006407.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    99(a)
    70(a)
    1 ↔ many
    1 ↔ many
    5(150166555-150270371)
    1(191545086-191612701)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.256952 Xenopus laevis transcribed sequence with moderate similarity more 80.75(n)    BU910336.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cdc401 cell division cycle 40 homolog (S. cerevisiae) 72.54(n)
    85.32(a)
      494534  NM_001009990.1  NP_001009990.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60151 CG6015 59.45(n)
    62.94(a)
      42593  NM_142748.5  NP_651005.1 
    worm
    (Caenorhabditis elegans)
    Secernentea prp-171 prp-17 57.89(n)
    52.3(a)
      172999  NM_060450.4  NP_492851.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC40(YDR364C)4 Pre-mRNA splicing factor, important for catalytic step more   --   4(1204210-1202843) 851968  NP_010652.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G105801 AT1G10580 57.9(n)
    55.81(a)
      837599  NM_100933.2  NP_172528.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g03975001 Os03g0397500 53.64(n)
    53.51(a)
      4333045  NM_001056837.1  NP_001050302.1 


    ENSEMBL Gene Tree for CDC40 (if available)
    TreeFam Gene Tree for CDC40 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CDC40 gene
    WDR252  
    3 SIMAP similar genes for CDC40 using alignment to 5 protein entries:     PRP17_HUMAN (see all proteins):
    POC1B    PF20    WDR5

    CDC40 for paralogs           About GeneDecksing



    (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 CDC40 (see all 892)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs744367301,2
    C,F--110503302(+) AAATCC/ATGCCT 1 -- int13Minor allele frequency- A:0.06WA NA EA 358
    rs598914101,2
    C,F--110503500(+) TTTATT/GTCCAG 1 -- int13Minor allele frequency- G:0.12WA CSA 122
    rs1820462351,2
    C--110503528(+) GCTTAC/TGATCT 1 -- int10--------
    rs77448281,2
    C,F,A,H--110503531(+) TACGAT/ACTTGA 1 -- int118Minor allele frequency- A:0.26NS EA NA WA CSA 1413
    rs762563331,2
    C,F--110503669(+) TTTGAT/GCTGTC 1 -- int13Minor allele frequency- G:0.04WA NA EA 358
    rs751538911,2
    C,F--110503714(+) CAAAGA/GAGGTA 1 -- int13Minor allele frequency- G:0.10WA NA EA 358
    rs560003411,2
    C--110503750(+) CCCCTA/GAAGCT 1 -- int10--------
    rs1866391061,2
    --110503787(+) TGTTTA/CATTAA 1 -- int10--------
    rs1463441321,2
    --110503821(+) TTGCTA/GTTTTC 1 -- int10--------
    rs1909997251,2
    --110503929(+) CAATGA/TTATTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for CDC40 (110501344 - 110575478 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CDC40:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5439CNV Insertion18451855
    nsv886536CNV Loss21882294
    nsv886535CNV Loss21882294
    dgv2001e1CNV Complex17122850

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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: 605585    OMIM disorders: --

    2 diseases for CDC40:    About MalaCards
    choroiditis    malaria


    CDC40 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CDC40
    Human Genome Epidemiology (HuGE) Navigator: CDC40 (1 document)

    Export disorders for CDC40 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 CDC40 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with CDC40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and functional analysis of hPRP17, the human homologue of the PRP17/CDC40 yeast gene involved in splicing and cell cycle control. (PubMed id 9769104)1, 2, 3, 9 Ben-Yehuda S.... Kupiec M. (RNA 1998)
    2. Functional conservation of the human homolog of the yeast pre-mRNA splicing factor Prp17p. (PubMed id 9830021)1, 2, 3 Lindsey L.A. and Garcia-Blanco M.A. (J. Biol. Chem. 1998)
    3. Somatic mutations of the CDC4 (FBXW7) gene in hereditary colorectal tumors. (PubMed id 19420964)1, 4 Miyaki M....Mori T. (Oncology 2009)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    7. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (RNA 2002)
    8. Human homologs of yeast prp16 and prp17 reveal conservation of the mechanism for catalytic step II of pre-mRNA splicing. (PubMed id 9524131)1, 2 Zhou Z. and Reed R. (EMBO J. 1998)
    9. Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module. (PubMed id 9303539)1, 2 Salcini A.E.... Di Fiore P.P. (Genes Dev. 1997)
    10. Dynamic protein-protein interaction wiring of the human spliceosome. (PubMed id 22365833)1 Hegele A....Stelzl U. (Mol. Cell 2012)

    (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: 51362 HGNC: 17350 AceView: CDC40 Ensembl:ENSG00000168438 euGenes: HUgn51362
    ECgene: CDC40 Kegg: 51362 H-InvDB: CDC40

    (According to HUGE)
    About This Section

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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 CDC40 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CDC40 gene:
    Search GeneIP for patents involving CDC40

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



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