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

NDC80 Gene

protein-coding   GIFtS: 60
GCID: GC18P002571

NDC80 Kinetochore Complex Component

(Previous names: highly expressed in cancer, rich in leucine heptad repeats...)
(Previous symbol: KNTC2)
  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
NDC80 Kinetochore Complex Component1 2     HsHec12 3
KNTC21 2 3     Highly Expressed In Cancer, Rich In Leucine Heptad Repeats (Yeast)1
Kinetochore Associated 21 2     NDC80 Kinetochore Complex Component Homolog (S. Cerevisiae)1
Highly Expressed In Cancer Protein2 3     TID32
Kinetochore Protein Hec12 3     Highly Expressed In Cancer, Rich In Leucine Heptad Repeats2
Kinetochore-Associated Protein 22 3     hsNDC802
Retinoblastoma-Associated Protein HEC2 3     Kinetochore Protein NDC80 Homolog2
HEC2 3     NDC80 Homolog, Kinetochore Complex Component2
HEC12 3     NDC80 Kinetochore Complex Component Homolog2

External Ids:    HGNC: 169091   Entrez Gene: 104032   Ensembl: ENSG000000809867   OMIM: 6072725   UniProtKB: O147773   

Export aliases for NDC80 gene to outside databases

Previous GC identifers: GC18P002562 GC18P002532


(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 NDC80 Gene:
This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal
microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the
complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required
for proper chromosome segregation. (provided by RefSeq, Oct 2011)

GeneCards Summary for NDC80 Gene: 
NDC80 (NDC80 kinetochore complex component) is a protein-coding gene. Diseases associated with NDC80 include retinoblastoma, and congenital disorder of glycosylation, and among its related super-pathways are Mitotic Anaphase and Mitotic Prometaphase. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: NDC80_HUMAN, O14777
Function: Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for
chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization
of stable microtubule binding sites in the outer plate of the kinetochore

Gene Wiki entry for NDC80 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_000018.9  NC_018929.2  NT_010859.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDC80 gene promoter:
         STAT5B   GR   CREB   Nkx3-1 v4   Pax-5   ATF-2   deltaCREB   Nkx3-1 v3   GR-alpha   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDC80 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDC80

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDC80


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

Entrez Gene cytogenetic band: 18p11.32   Ensembl cytogenetic band:  18p11.32   HGNC cytogenetic band: 18p11.31

NDC80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDC80 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P002571:  view genomic region     (about GC identifiers)

Start:
2,571,510 bp from pter      End:
2,616,634 bp from pter
Size:
45,125 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: NDC80_HUMAN, O14777 (See protein sequence)
Recommended Name: Kinetochore protein NDC80 homolog  
Size: 642 amino acids; 73913 Da
Subunit: Component of the NDC80 complex, which consists of NDC80/HEC1, CDCA1, SPBC24 and SPBC25. The NDC80 complex
is formed by two subcomplexes composed of NDC80/HEC1-CDCA1 and SPBC24-SPBC25. Each subcomplex is formed by
parallel interactions through the coiled-coil domains of individual subunits. Formation of a tetrameric complex
is mediated by interactions between the C-terminal regions of both subunits of the NDC80/HEC1-CDCA1 subcomplex
and the N-terminal regions of both subunits of the SPBC24-SPBC25 complex. The tetrameric NDC80 complex has an
elongated rod-like structure with globular domains at either end. Interacts with isoform 1 of NEK2 and ZWINT
specifically during mitosis. Interacts with CENPH and MIS12. May interact with AURKB, PSMC2, PSMC5 and SMC1A. May
interact with RB1 during G2 phase and mitosis
Subcellular location: Nucleus. Chromosome, centromere, kinetochore. Note=Localizes to kinetochores from late
prophase to anaphase. Localizes specifically to the outer plate of the kinetochore
Developmental stage: Expression peaks in mitosis
3 PDB 3D structures from and Proteopedia for NDC80:
2IGP (3D)        2VE7 (3D)        3IZ0 (3D)    
Secondary accessions: Q6PJX2

Explore the universe of human proteins at neXtProt for NDC80: NX_O14777

Explore proteomics data for NDC80 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation begins in S phase of the cell cycle and peaks in mitosis. Phosphorylated by NEK2. May also be
    phosphorylated by AURKA and AURKB
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14777

  • NDC80 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NDC80 Protein Expression
    REFSEQ proteins: NP_006092.1  
    ENSEMBL proteins: 
     ENSP00000261597   ENSP00000461227   ENSP00000458236  
    Reactome Protein details: O14777
    Human Recombinant Protein Products for NDC80: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region TAS9315664
    GO:0000776kinetochore IDA17363900
    GO:0000777condensed chromosome kinetochore IDA14699129
    GO:0000942condensed nuclear chromosome outer kinetochore IDA18195732
    GO:0005634nucleus TAS9315664

    NDC80 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR005550 Kinetochore_Ndc80

    Graphical View of Domain Structure for InterPro Entry O14777

    ProtoNet protein and cluster: O14777

    UniProtKB/Swiss-Prot: NDC80_HUMAN, O14777
    Similarity: Belongs to the NDC80/HEC1 family


    NDC80 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: NDC80_HUMAN, O14777
    Function: Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for
    chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization
    of stable microtubule binding sites in the outer plate of the kinetochore

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14699129
         
    NDC80 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for NDC80:
     Cell cycle / mitosis defect  Cell division defect  Decreased cell number, increas  Decreased viability of wild-ty 
     Increased Salmonella enterica   Increased gamma-H2AX phosphory  Increased number of mitotic ce 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NDC80 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NDC80

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NDC80 
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    miRNA
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    (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 NDC80 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Separation of Sister Chromatids0.94
    Mitotic M-M/G1 phases0.88
    Mitotic Metaphase and Anaphase0.94
    2Resolution of Sister Chromatid Cohesion
    Resolution of Sister Chromatid Cohesion0.93
    Mitotic Prometaphase0.93
    3Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    4Cell cycle Spindle assembly and chromosome separation
    Cell cycle Spindle assembly and chromosome separation0.94
    5PLK1 signaling events
    PLK1 signaling events

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for NDC80
        Cell cycle Spindle assembly and chromosome separation


    1 GeneGo (Thomson Reuters) Pathway for NDC80
        Cell cycle Spindle assembly and chromosome separation

    2 BioSystems Pathways for NDC80
        PLK1 signaling events
    Aurora B signaling

    5/9        Reactome Pathways for NDC80 (see all 9)
        Mitotic Metaphase and Anaphase
    Mitotic Prometaphase
    Resolution of Sister Chromatid Cohesion
    Mitotic Anaphase
    Cell Cycle



    NDC80 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NDC80

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

    5/861 Interacting proteins for NDC80 (O147771, 2, 3 ENSP000002615974) via UniProtKB, MINT, STRING, and/or I2D (see all 861)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BUB1O436832, 3, ENSP000003025304MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000302530
    PLK1P533502, 3, ENSP000003000934MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000300093
    BLOC1S6Q9UL452, 3, ENSP000002205314MINT-66567 I2D: score=5 STRING: ENSP00000220531
    CALCOCO1Q9P1Z22, 3, ENSP000002620594MINT-68257 I2D: score=5 STRING: ENSP00000262059
    CCDC53Q9Y3C02, 3, ENSP000002400794MINT-66964 I2D: score=5 STRING: ENSP00000240079
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000070mitotic sister chromatid segregation TAS9315664
    GO:0000132establishment of mitotic spindle orientation IMP19468067
    GO:0000278mitotic cell cycle TAS--
    GO:0007049cell cycle NAS15504738
    GO:0007051spindle organization NAS15504738

    NDC80 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NDC80

    Search CenterWatch for drugs/clinical trials and news about NDC80

    (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 NDC80 gene: 
    NM_006101.2  

    Unigene Cluster for NDC80:

    NDC80 kinetochore complex component
    Hs.414407  [show with all ESTs]
    Unigene Representative Sequence: NM_006101
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261597(uc002kli.3) ENST00000575515 ENST00000576274 ENST00000574567
    ENST00000574096
    miRNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NDC80 (NM_006101)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDC80
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDC80
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDC80
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDC80

    Additional mRNA sequence: 

    AF017790.1 AK289396.1 AK313184.1 BC005239.1 BC010171.2 BC035617.1 

    7 DOTS entries:

    DT.413766  DT.91875217  DT.75101903  DT.91766976  DT.100765539  DT.121096331  DT.92062162 

    24/120 AceView cDNA sequences (see all 120):

    BI087094 BU633554 AI866885 BF447144 BC005239 CR609890 BU507911 BQ776118 
    BQ425406 BC035617 CA446863 BX284007 AA639709 AA857356 AL531915 BI260526 
    W77785 CD557751 BX431751 BI093871 AA211359 BM995677 BG500282 AI979323 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for NDC80    About this scheme

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


    ECgene alternative splicing isoforms for NDC80

    (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

    NDC80 expression in normal human tissues (normalized intensities)      NDC80 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATATATATC
    NDC80 Expression
    About this image


    NDC80 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
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Peripheral Nervous System (Nervous System)
             Human Schwann Cells (HSC)   
     
     Bone (Muscoskeletal System)
             Human fetal bone marrow-derived mesenchymal stromal cells
     
     Gonad
             XX Germ Cells Ovigerous Cord
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer

    See NDC80 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDC80

    SOURCE GeneReport for Unigene cluster: Hs.414407
        SABiosciences Custom PCR Arrays for NDC80
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDC80

    (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 NDC80 gene from 9/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndc801 , 5 NDC80 homolog, kinetochore complex component (S. cerevisiae)1, 5 84.16(n)1
    83.96(a)1
      17 (41.87 cM)5
    670521  NM_023294.21  NP_075783.21 
     714961005 
    chicken
    (Gallus gallus)
    Aves NDC801 NDC80 homolog, kinetochore complex component (S. cerevisiae) 73.27(n)
    71.86(a)
      395134  NM_204477.2  NP_989808.2 
    lizard
    (Anolis carolinensis)
    Reptilia NDC806
    Uncharacterized protein
    55(a)
    1 ↔ 1
    4(40271650-40321843)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY168013.12   -- 74.45(n)    AY168013.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ndc801 NDC80 homolog, kinetochore complex component (S. cerevisiae) 55.69(n)
    46.66(a)
      445386  NM_001003863.1  NP_001003863.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ndc-801 Protein NDC-80 43.33(n)
    24.9(a)
      177873  NM_069429.3  NP_501830.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TID3(YIL144W)4
    TID31
    Component of the evolutionarily conserved kinetochore-associated more4
    Tid3p1
    41.9(n)1
    23.08(a)1
      9(78074-80149)4
    8546621, 4  NP_012122.31  NP_012122.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G546301 kinetochore protein NDC80 41.92(n)
    27.63(a)
      824628  NM_115320.2  NP_191024.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g04684001 hypothetical protein 38.83(n)
    25.86(a)
      4345797  NM_001068543.1  NP_001062008.1 


    ENSEMBL Gene Tree for NDC80 (if available)
    TreeFam Gene Tree for NDC80 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDC80 gene
    18/64 SIMAP similar genes for NDC80 using alignment to 4 protein entries:     NDC80_HUMAN (see all proteins) (see all similar genes):
    KNTC2    C14orf23    ARL6IP5    SNRPF    C12orf76    RRM2B
    UBXN4    ACTR10    COQ5    FLJ00047    MRPL45    NLRC5
    RHBG    SEC14L3    TBCB    NLN    ARIH1    CDK10

    NDC80 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

    10/902 SNPs in NDC80 are shown (see all 902)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0274384
    ----see VAR_0274382 A P mis40--------
    rs1926148001,2
    --2573600(+) TGAGTC/GATTAT 1 -- int10--------
    rs562484791,2
    C,F--2573664(+) CTCTAG/CTACCG 1 -- int12Minor allele frequency- C:0.09WA NA 238
    rs1835753371,2
    --2573728(+) AGCCTA/GTGTTA 1 -- int10--------
    rs1890343331,2
    --2573906(+) TGTAAC/TAAGTG 1 -- int10--------
    rs1809893521,2
    --2573936(+) AGCAGC/GCTCTA 1 -- int10--------
    rs784288841,2
    C,F--2573994(+) GATAGG/AGTTTT 1 -- int11Minor allele frequency- A:0.06EA 120
    rs1845631221,2
    --2574055(+) TGACCA/GTTTTG 1 -- int10--------
    rs713560581,2
    C,F--2574078(+) TTCCTA/GCCTAC 1 -- int14Minor allele frequency- G:0.05NA 130
    rs1898849321,2
    C--2574103(+) TGGTAA/TATAAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for NDC80 (2571510 - 2616634 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NDC80:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671932CNV Deletion23128226
    esv1594787CNV Deletion17803354
    esv2089038CNV Deletion18987734
    esv2487024CNV Deletion19546169
    esv2716679CNV Deletion23290073
    nsv131902CNV Loss16902084
    esv1001812CNV Gain20482838

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    (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: 607272    OMIM disorders: --

    4 diseases for NDC80:    About MalaCards
    retinoblastoma    congenital disorder of glycosylation    gastric cancer    breast cancer


    NDC80 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for NDC80 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 17.9 4 16732327 (1), 12386167 (1), 17330085 (1), 17822787 (1)

    Genetic Association Database (GAD): NDC80
    Human Genome Epidemiology (HuGE) Navigator: NDC80 (3 documents)

    Export disorders for NDC80 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 NDC80 gene, integrated from 9 sources (see all 80):
    (articles sorted by number of sources associating them with NDC80)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HEC, a novel nuclear protein rich in leucine heptad repeats specifically involved in mitosis. (PubMed id 9315664)1, 2, 3, 9 Chen Y.... Lee W.-H. (1997)
    2. Role of Hec1 in spindle checkpoint signaling and kinetochore recruitment of Mad1/Mad2. (PubMed id 12351790)1, 2, 3 Martin-Lluesma S.... Nigg E.A. (2002)
    3. Phosphorylation of the mitotic regulator protein Hec1 by Nek2 kinase is essential for faithful chromosome segregation. (PubMed id 12386167)1, 2, 9 Chen Y.... Lee W.-H. (2002)
    4. Hec1 sequentially recruits Zwint-1 and ZW10 to kinetochores for faithful chromosome segregation and spindle checkpoint control. (PubMed id 16732327)1, 2, 9 Lin Y.-T.... Lee W.-H. (2006)
    5. Sgt1 is required for human kinetochore assembly. (PubMed id 15133482)1, 2, 9 Steensgaard P.... Musacchio A. (2004)
    6. Hec1p, an evolutionarily conserved coiled-coil protein, modulates chromosome segregation through interaction with SMC proteins. (PubMed id 10409732)1, 2, 9 Zheng L.... Lee W.-H. (1999)
    7. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (2010)
    8. Polo-like kinase 1 creates the tension-sensing 3F3/2 phosphoepitope and modulates the association of spindle-checkpoint proteins at kinetochores. (PubMed id 15964272)1, 2 Ahonen L.J.... Gorbsky G.J. (2005)
    9. Hec1 and Nuf2 are core components of the kinetochore outer plate essential for organizing microtubule attachment sites. (PubMed id 15548592)1, 2 DeLuca J.G.... McEwen B.F. (2005)
    10. ZW10 links mitotic checkpoint signaling to the structural kinetochore. (PubMed id 15824131)1, 2 Kops G.J.P.L.... Cleveland D.W. (2005)

    (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: 10403 HGNC: 16909 AceView: KNTC2 Ensembl:ENSG00000080986 euGenes: HUgn10403
    ECgene: NDC80 H-InvDB: NDC80

    (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 NDC80 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NDC80 gene:
    Search GeneIP for patents involving NDC80

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



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