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

CDC6 Gene

protein-coding   GIFtS: 65
GCID: GC17P038443

Cell Division Cycle 6

(Previous names: CDC6 (cell division cycle 6, S. cerevisiae) homolog, CDC6...)
(Previous symbol: CDC18L)
  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)
About This Section

Aliases
Cell Division Cycle 61 2     CDC6 Cell Division Cycle 6 Homolog (S. Cerevisiae)1
CDC18L1 2 3 5     Cell Division Cycle 6 Homolog (S. Cerevisiae)1
Cdc18-Related Protein2 3     HsCDC182
HsCDC62 3     CDC6 Cell Division Cycle 6 Homolog2
CDC6-Related Protein2 3     Cell Division Control Protein 6 Homolog2
p62(cdc6)2 3     Cell Division Cycle 6 Homolog2
CDC6 (Cell Division Cycle 6, S. Cerevisiae) Homolog1     HsCdc183

External Ids:    HGNC: 17441   Entrez Gene: 9902   Ensembl: ENSG000000948047   OMIM: 6026275   UniProtKB: Q997413   

Export aliases for CDC6 gene to outside databases

Previous GC identifers: GC17P037939 GC17P040619 GC17P038352 GC17P038817 GC17P035697 GC17P034237


(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 CDC6 Gene:
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the
initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It
localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The
subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks.
Transcription of this protein was reported to be regulated in response to mitogenic signals through
transcriptional control mechanism involving E2F proteins. (provided by RefSeq, Jul 2008)

GeneCards Summary for CDC6 Gene: 
CDC6 (cell division cycle 6) is a protein-coding gene. Diseases associated with CDC6 include meier-gorlin syndrome 5, and cervical intraepithelial neoplasia, and among its related super-pathways are Activation of the pre-replicative complex and Cell cycle. GO annotations related to this gene include kinase binding and nucleotide binding. An important paralog of this gene is ORC1.

UniProtKB/Swiss-Prot: CDC6_HUMAN, Q99741
Function: Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA
replication is completed before mitosis is initiated

Gene Wiki entry for CDC6 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CDC6 gene promoter:
         c-Fos   SRF   AP-1   NRSF form 1   SRF (504 AA)   Nkx2-5   NRSF form 2   HNF-4alpha1   c-Jun   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDC6 promoter sequence
   Search SABiosciences Chromatin IP Primers for CDC6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDC6


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

Entrez Gene cytogenetic band: 17q21.3   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.3

CDC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDC6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P038443:  view genomic region     (about GC identifiers)

Start:
38,443,885 bp from pter      End:
38,459,413 bp from pter
Size:
15,529 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CDC6_HUMAN, Q99741 (See protein sequence)
Recommended Name: Cell division control protein 6 homolog  
Size: 560 amino acids; 62720 Da
Subunit: Interacts with PCNA, ORC1L, cyclin-CDK and HUWE1
Subcellular location: Nucleus. Cytoplasm. Note=The protein is nuclear in G1 and cytoplasmic in S-phase cells
4 PDB 3D structures from and Proteopedia for CDC6:
2CCH (3D)        2CCI (3D)        4I5L (3D)        4I5N (3D)    
Secondary accessions: Q8TB30

Explore the universe of human proteins at neXtProt for CDC6: NX_Q99741

Explore proteomics data for CDC6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99741

  • CDC6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CDC6 Protein Expression
    REFSEQ proteins: NP_001245.1  
    ENSEMBL proteins: 
     ENSP00000209728   ENSP00000463635   ENSP00000463004   ENSP00000464047  
    Reactome Protein details: Q99741
    Human Recombinant Protein Products for CDC6: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CDC6 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm TAS9566895
    GO:0005819spindle ----

    CDC6 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for CDC6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR016314 Cell_div_Cdc6/18
     IPR011991 WHTH_DNA-bd_dom
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR015163 Cdc6_C_dom

    Graphical View of Domain Structure for InterPro Entry Q99741

    ProtoNet protein and cluster: Q99741

    UniProtKB/Swiss-Prot: CDC6_HUMAN, Q99741
    Similarity: Belongs to the CDC6/cdc18 family


    CDC6 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CDC6_HUMAN, Q99741
    Function: Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA
    replication is completed before mitosis is initiated

         Genatlas biochemistry entry for CDC6:
    cell division cycle 6,S cerevisiae homolog,selectively expressed in proliferating but not quiescent cell,regulated
    by E2F proteins,required for the initiation of DNA replication ,ORC1 homolog

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding TAS8990175
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding IPI14672932
    GO:0005524ATP binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--
         
    CDC6 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for CDC6:
     Decreased Wnt reporter activit  G2 arrest  Increased G2M DNA content  Increased cell death in breast 
     Increased cell number in S  Upregulation of Wnt/beta-caten 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cdc6):
     mortality/aging 

    CDC6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CDC6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CDC6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CDC6 
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    miRNA
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    miRTarBase miRNAs that target CDC6:
    hsa-mir-26a (MIRT001022)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CDC6
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate CDC6 (see all 13):
    hsa-miR-130a* hsa-miR-23c hsa-miR-4282 hsa-miR-1297 hsa-miR-513b hsa-miR-23b hsa-miR-3115 hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidCDC6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDC6


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CDC6 About   (see all 16)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Activation of the pre-replicative complex
    Activation of the pre-replicative complex0.67
    Cell cycle Start of DNA replication in early S phase0.54
    DNA Replication0.67
    2Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    3CDK-mediated phosphorylation and removal of Cdc6
    CDK-mediated phosphorylation and removal of Cdc60.94
    M/G1 Transition0.81
    CDT1 association with the CDC6:ORC:origin complex0.91
    DNA Replication Pre-Initiation0.81
    Assembly of the pre-replicative complex0.91
    Synthesis of DNA0.79
    Removal of licensing factors from origins0.89
    S Phase0.79
    4Activation of ATR in response to replication stress
    Activation of ATR in response to replication stress0.86
    G2/M Checkpoints0.86
    5Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for CDC6
        Cell cycle Role of APC in cell cycle regulation
    Meiosis
    Cell cycle Start of DNA replication in early S phase

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CDC6
        Factors Promoting Cardiogenesis in Vertebrates
    Cell Cycle Control of Chromosomal Replication

    1 Cell Signaling Technology (CST) Pathway for CDC6
        Cell Cycle / Checkpoint Control

    2 GeneGo (Thomson Reuters) Pathways for CDC6
        Cell cycle Role of APC in cell cycle regulation
    Cell cycle Start of DNA replication in early S phase

    3 BioSystems Pathways for CDC6
        Cell cycle
    DNA Replication
    E2F transcription factor network

    5/26        Reactome Pathways for CDC6 (see all 26)
        Activation of ATR in response to replication stress
    Mitotic G1-G1/S phases
    DNA Replication
    G0 and Early G1
    Removal of licensing factors from origins


    1         Kegg Pathway  (Kegg details for CDC6):
        Cell cycle


    CDC6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CDC6

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

    5/195 Interacting proteins for CDC6 (Q997411, 2, 3 ENSP000002097284) via UniProtKB, MINT, STRING, and/or I2D (see all 195)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000076DNA replication checkpoint TAS9566895
    GO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity TAS9566895
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000083regulation of transcription involved in G1/S transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--

    CDC6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CDC6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CDC6

    6 Novoseek inferred chemical compound relationships for CDC6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    se-methylselenocysteine 67.1 3 15213307 (1), 16518418 (1), 16535772 (1)
    sn 38 48.2 2 15213307 (1), 16535772 (1)
    atpgammas 32.4 2 11737877 (1)
    atp 17 11 16387651 (6), 14506278 (2), 20139730 (1), 11737877 (1)
    oligonucleotide 0 2 12384698 (1)
    etoposide 0 3 14517333 (1), 16801388 (1)

    Search CenterWatch for drugs/clinical trials and news about CDC6

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CDC6 gene: 
    NM_001254.3  

    Unigene Cluster for CDC6:

    Cell division cycle 6
    Hs.405958  [show with all ESTs]
    Unigene Representative Sequence: NM_001254
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000209728(uc002huj.1) ENST00000580824 ENST00000577249 ENST00000473555
    ENST00000582402
    miRNA
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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate CDC6 (see all 13):
    hsa-miR-130a* hsa-miR-23c hsa-miR-4282 hsa-miR-1297 hsa-miR-513b hsa-miR-23b hsa-miR-3115 hsa-miR-3613-3p
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    Additional mRNA sequence: 

    AF022109.1 AK313620.1 BC025232.1 U77949.1 

    10 DOTS entries:

    DT.444451  DT.100749845  DT.100035643  DT.95272820  DT.120902080  DT.120902193  DT.75101780  DT.95272818 
    DT.99933270  DT.120902197 

    24/133 AceView cDNA sequences (see all 133):

    BU619893 AA356355 BU620637 BM465884 BM836937 CA429336 BQ675107 AA836395 
    BE550416 BP364218 CA488634 BE907412 BP870473 AA584340 BC025232 BX956287 
    BU633837 BU846236 BQ775002 BQ228599 BE548194 BE741201 BP336518 NM_001254 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CDC6    About this scheme

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


    ECgene alternative splicing isoforms for CDC6

    (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

    CDC6 expression in normal human tissues (normalized intensities)      CDC6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CDC6 Expression
    About this image


    CDC6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Endothelial Cells Blood Brain Barrier
             Globus Pallidus
             Septum   
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   

    See CDC6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDC6

    SOURCE GeneReport for Unigene cluster: Hs.405958
        SABiosciences Expression via Pathway-Focused PCR Arrays including CDC6: 
              Cell Cycle in human mouse rat
              TGFB Signaling Targets in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CDC6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDC6

    (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 CDC6 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdc61 , 5 cell division cycle 6 homolog (S. cerevisiae)5
    cell division cycle 61
    82.41(n)1
    80.5(a)1
      11 (62.74 cM)5
    238341  NM_011799.21  NP_035929.11 
     989078015 
    chicken
    (Gallus gallus)
    Aves CDC66
    cell division cycle 6
    56(a)
    1 ↔ 1
    27(4392874-4396015)
    lizard
    (Anolis carolinensis)
    Reptilia CDC66
    Uncharacterized protein
    63(a)
    1 ↔ 1
    6(69630079-69653624)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xcdc62 Cdc6-related protein 75.46(n)    U66558.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.38502 Danio rerio cDNA clone IMAGE6797233, partial cds 70.99(n)    BC056313.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG59713
    Cdc61
    pre-replicative complex formation and
    maintenance more3
    CG5971-PA1
    42(a)3
    49.06(n)1
    41.09(a)1
      66D93
    389891  NM_139990.21  NP_648247.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cdc-61 Protein CDC-6 42.68(n)
    32.74(a)
      172029  NM_058942.4  NP_491343.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC6(YJL194W)4 Essential ATP-binding protein required for DNA replication, more   --   10(69338-70879) 853244  NP_012341.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CDC61 cell division control 6 43.63(n)
    33.88(a)
      817518  NM_179806.1  NP_850137.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g08560001 hypothetical protein 45.61(n)
    32.86(a)
      4324832  NM_001051380.1  NP_001044845.2 


    ENSEMBL Gene Tree for CDC6 (if available)
    TreeFam Gene Tree for CDC6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CDC6 gene
    ORC12  

    CDC6 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) 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

    10/344 SNPs in CDC6 are shown (see all 344)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0654934
    Meier-Gorlin syndrome 5 (MGORS5)4--see VAR_0654932 T R mis40--------
    rs41350051,2
    C,F--38448383(+) tcttgG/Tgctca 1 -- int11Minor allele frequency- T:0.01NS 180
    rs41350061,2
    C,F--38448406(+) acctcG/Agcctc 1 -- int12Minor allele frequency- A:0.02NS WA 298
    rs41350071,2
    C,F--38448552(+) ctgggA/Gttaca 1 -- int11Minor allele frequency- G:0.01NS 180
    rs58203441,2
    C--38454649(+) TTTTTT/-CTTTT 1 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs671629651,2
    C--38455391(+) TTTTTT/-GAGAC 1 -- int11Minor allele frequency- -:0.50NA 2
    rs2011840751,2
    C--38456003(+) AAAAAA/GAAAAA 1 -- int10--------
    rs713000551,2
    C--38456004(-) ACCATT/-CTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs2015100721,2
    C--38456021(-) ACCATC/TTTTTT 1 -- int10--------
    rs1421691111,2
    --39229238(+) CAGTGA/TAGGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CDC6 (38443885 - 38459413 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CDC6: --

    Human Gene Mutation Database (HGMD): CDC6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CDC6
    DNA2.0 Custom Variant and Variant Library Synthesis for CDC6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602627    OMIM disorders: --

    UniProtKB/Swiss-Prot: CDC6_HUMAN, Q99741
  • Meier-Gorlin syndrome 5 (MGORS5) [MIM:613805]: A syndrome characterized by bilateral microtia,
    aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature
    and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently
    low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract
    anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial
    prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic
    patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 20/29 diseases for CDC6 (see all 29):    About MalaCards
    meier-gorlin syndrome 5    cervical intraepithelial neoplasia    meier-gorlin syndrome    microtia
    mantle cell lymphoma    cervical cancer    dwarfism    cervicitis
    microcephaly    short stature    oral squamous cell carcinoma    chronic lymphocytic leukemia
    cleft palate    hepatocellular carcinoma    hodgkin's lymphoma    non-hodgkin lymphoma
    hypoxia    prostate cancer    squamous cell carcinoma    pancreatic cancer


    CDC6 for disorders           About GeneDecksing

    10/13 Novoseek inferred disease relationships for CDC6 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cervical dysplasia 33.8 1 15696126 (1)
    cancer 28.1 7 20079629 (1), 16572177 (1), 18259842 (1), 12718885 (1) (see all 5)
    cervical intraepithelial neoplasia 26 4 15696126 (2), 12296751 (1), 15858126 (1)
    cervical cancer 23.6 2 15858126 (1), 19950599 (1)
    tumors 20.8 26 15858126 (3), 19102762 (3), 11496317 (2), 14517333 (1) (see all 11)
    carcinoma squamous cell 13.4 5 15858126 (2), 15696126 (2), 12296751 (1)
    prostate cancer 9.66 14 19520769 (4), 18541154 (4), 19107233 (2), 15887248 (1)
    dysplasia 7.35 8 12296751 (2), 19116018 (2), 15858126 (1)
    lung carcinoma 5.1 1 16572177 (1)
    necrosis 0 3 14517333 (1), 16801388 (1)

    Genetic Association Database (GAD): CDC6
    Human Genome Epidemiology (HuGE) Navigator: CDC6 (8 documents)

    Export disorders for CDC6 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 CDC6 gene, integrated from 9 sources (see all 211):
    (articles sorted by number of sources associating them with CDC6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human CDC6/Cdc18 associates with Orc1 and cyclin-cdk and is selectively eliminated from the nucleus at the onset of S phase. (PubMed id 9566895)1, 2, 3 Saha P.... Dutta A. (1998)
    2. A human protein related to yeast Cdc6p. (PubMed id 8990175)1, 2, 3 Williams R.S.... Stillman B. (1997)
    3. A novel polymorphism in CDC6 is associated with the decline in lung function of ex-smokers in COPD. (PubMed id 19233139)1, 4, 9 Takabatake N....Kubota I. (2009)
    4. Association analysis between the Cdc6 G1321A polymorphism and the risk for non-Hodgkin lymphoma and hepatocellular carcinoma. (PubMed id 19101572)1, 4, 9 Xiong X.D....Zhuang S.M. (2009)
    5. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. (PubMed id 21358632)1, 2 Bicknell L.S....Jackson A.P. (2011)
    6. Association between the CDC6 G1321A polymorphism and the risk of cervical cancer. (PubMed id 20606534)1, 4 Xiong X.D....Liu X.G. (2010)
    7. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    8. A novel functional polymorphism in the Cdc6 promoter is associated with the risk for hepatocellular carcinoma. (PubMed id 18640135)1, 4 Xiong X.D....Zhuang S.M. (2008)
    9. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1, 4 Enjuanes A....Campo E. (2008)
    10. Cdc6 stability is regulated by the Huwe1 ubiquitin ligase after DNA damage. (PubMed id 17567951)1, 2 Hall J.R....Cook J.G. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 990 HGNC: 1744 AceView: CDC6 Ensembl:ENSG00000094804 euGenes: HUgn990
    ECgene: CDC6 Kegg: 990 H-InvDB: CDC6

    (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 CDC6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CDC6 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cdc6/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CDC6 gene:
    Search GeneIP for patents involving CDC6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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