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 Re... See more...

Aliases for NDC80 Gene

Aliases for NDC80 Gene

  • NDC80 Kinetochore Complex Component 2 3 5
  • Retinoblastoma-Associated Protein HEC 3 4
  • Highly Expressed In Cancer Protein 3 4
  • Kinetochore Protein NDC80 Homolog 3 4
  • Kinetochore-Associated Protein 2 3 4
  • Kinetochore Protein Hec1 3 4
  • Kinetochore Associated 2 2 3
  • HsHec1 3 4
  • KNTC2 3 4
  • HEC1 3 4
  • HEC 3 4
  • Highly Expressed In Cancer, Rich In Leucine Heptad Repeats (Yeast) 2
  • NDC80 Kinetochore Complex Component Homolog (S. Cerevisiae) 2
  • Highly Expressed In Cancer, Rich In Leucine Heptad Repeats 3
  • NDC80 Homolog, Kinetochore Complex Component 3
  • NDC80 Kinetochore Complex Component Homolog 3
  • HsNDC80 3
  • TID3 3

External Ids for NDC80 Gene

Previous HGNC Symbols for NDC80 Gene

  • KNTC2

Previous GeneCards Identifiers for NDC80 Gene

  • GC18P002562
  • GC18P002532

Summaries for NDC80 Gene

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. Among its related pathways are Mitotic Metaphase and Anaphase and Cell cycle_Spindle assembly and chromosome separation. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of cytoskeleton.

UniProtKB/Swiss-Prot Summary for NDC80 Gene

  • Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:9315664, PubMed:12351790, PubMed:14654001, PubMed:14699129, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:16732327). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spindle microtubules (PubMed:25743205, PubMed:23891108).

Gene Wiki entry for NDC80 Gene

Additional gene information for NDC80 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDC80 Gene

Genomics for NDC80 Gene

GeneHancer (GH) Regulatory Elements for NDC80 Gene

Promoters and enhancers for NDC80 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J002569 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 690 5.2 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G GTF2E2 PHF8 JUND TEAD4 METTL4 NDC80 SMCHD1 MYL12B TGIF1 KATNBL1P3 lnc-METTL4-3
GH18J002653 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +85.3 85258 6.5 ZSCAN5C SIN3A NRF1 POLR2G NCOR1 GTF2E2 PHF8 JUND PHB2 FOS SMCHD1 CBX3P2 lnc-METTL4-5 METTL4 EMILIN2 NDC80 LPIN2 piR-43107-127
GH18J002633 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +66.9 66896 9.4 ZBTB40 SIN3A EP300 RELA RCOR1 CTCF TCF12 FOXA2 CBFB ZNF384 lnc-SMCHD1-1 METTL4 EMILIN2 NDC80 SMCHD1 DLGAP1-AS2 RF00026-460 RNU6-340P
GH18J002646 Promoter/Enhancer 1 Ensembl dbSUPER 11.3 +75.0 74990 0.6 NFIC TRIM24 CEBPB SPI1 GABPB1 NFE2 GABPA ATF4 POLR2A NFIA METTL4 NDC80 RF00026-460 RNU6-340P lnc-SMCHD1-1
GH18J002822 Enhancer 0.7 Ensembl 14 +251.3 251290 1.2 BCLAF1 PHB2 ARNT NR3C1 FOSL1 BCOR EHMT2 MCM7 MCM5 ZC3H8 SMCHD1 NDC80 ENSG00000272625 RF00017-2604 hsa-miR-5095-235 ENSG00000266049
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDC80 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDC80

Top Transcription factor binding sites by QIAGEN in the NDC80 gene promoter:
  • ATF-2
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • IRF-1
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Pax-5
  • STAT5B

Genomic Locations for NDC80 Gene

Genomic Locations for NDC80 Gene
chr18:2,571,511-2,616,635
(GRCh38/hg38)
Size:
45,125 bases
Orientation:
Plus strand
chr18:2,571,510-2,616,634
(GRCh37/hg19)
Size:
45,125 bases
Orientation:
Plus strand

Genomic View for NDC80 Gene

Genes around NDC80 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDC80 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDC80 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDC80 Gene

Proteins for NDC80 Gene

  • Protein details for NDC80 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14777-NDC80_HUMAN
    Recommended name:
    Kinetochore protein NDC80 homolog
    Protein Accession:
    O14777
    Secondary Accessions:
    • Q6PJX2

    Protein attributes for NDC80 Gene

    Size:
    642 amino acids
    Molecular mass:
    73913 Da
    Quaternary structure:
    • 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. Interacts with CKAP5 (PubMed:27156448). Interacts with CDT1; leading to kinetochore localization of CDT1 (PubMed:22581055).

    Three dimensional structures from OCA and Proteopedia for NDC80 Gene

neXtProt entry for NDC80 Gene

Post-translational modifications for NDC80 Gene

  • Phosphorylation begins in S phase of the cell cycle and peaks in mitosis. Phosphorylated by NEK2. May also be phosphorylated by AURKA and AURKB.
  • Ubiquitination at Lys26, Lys123, Lys300, Lys360, and Lys462
  • Modification sites at PhosphoSitePlus

Other Protein References for NDC80 Gene

No data available for DME Specific Peptides for NDC80 Gene

Domains & Families for NDC80 Gene

Gene Families for NDC80 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NDC80 Gene

Suggested Antigen Peptide Sequences for NDC80 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93683, Homo sapiens kinetochore associated 2 (KNTC2), mRNA (A8K031_HUMAN)
  • Retinoblastoma-associated protein HEC (NDC80_HUMAN)
  • NDC80 protein (Q05DQ6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14777

UniProtKB/Swiss-Prot:

NDC80_HUMAN :
  • Belongs to the NDC80/HEC1 family.
Family:
  • Belongs to the NDC80/HEC1 family.
genes like me logo Genes that share domains with NDC80: view

Function for NDC80 Gene

Molecular function for NDC80 Gene

UniProtKB/Swiss-Prot Function:
Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:9315664, PubMed:12351790, PubMed:14654001, PubMed:14699129, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:16732327). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spindle microtubules (PubMed:25743205, PubMed:23891108).

Phenotypes From GWAS Catalog for NDC80 Gene

Gene Ontology (GO) - Molecular Function for NDC80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14699129
GO:0042802 identical protein binding IPI 20360068
genes like me logo Genes that share ontologies with NDC80: view
genes like me logo Genes that share phenotypes with NDC80: view

Animal Model Products

miRNA for NDC80 Gene

miRTarBase miRNAs that target NDC80

Clone Products

  • Addgene plasmids for NDC80

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDC80 Gene

Localization for NDC80 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDC80 Gene

Nucleus. Chromosome, centromere, kinetochore. Note=Localizes to kinetochores from late prophase to anaphase. Localizes specifically to the outer plate of the kinetochore.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDC80 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDC80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region TAS 9315664
GO:0000776 kinetochore IEA,IDA 17363900
GO:0000777 condensed chromosome kinetochore IEA,IDA 14699129
GO:0000778 condensed nuclear chromosome kinetochore IBA 21873635
GO:0000942 condensed nuclear chromosome outer kinetochore IDA 18195732
genes like me logo Genes that share ontologies with NDC80: view

Pathways & Interactions for NDC80 Gene

genes like me logo Genes that share pathways with NDC80: view

Pathways by source for NDC80 Gene

2 BioSystems pathways for NDC80 Gene
1 GeneGo (Thomson Reuters) pathway for NDC80 Gene
  • Cell cycle_Spindle assembly and chromosome separation

SIGNOR curated interactions for NDC80 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NDC80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation TAS 9315664
GO:0000132 establishment of mitotic spindle orientation IMP 19468067
GO:0000278 mitotic cell cycle TAS 9315664
GO:0007049 cell cycle IEA --
GO:0007052 mitotic spindle organization IMP 14699129
genes like me logo Genes that share ontologies with NDC80: view

Drugs & Compounds for NDC80 Gene

(3) Drugs for NDC80 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
INH1 Pharma 0
INH6 Pharma 0
TAI-1 Pharma Hec1 inhibitor, potent, first-in-class 0

(3) ApexBio Compounds for NDC80 Gene

Compound Action Cas Number
INH1 313553-47-8
INH6 1001753-24-7
TAI-1 Hec1 inhibitor, potent, first-in-class 1334921-03-7
genes like me logo Genes that share compounds with NDC80: view

Drug Products

Transcripts for NDC80 Gene

mRNA/cDNA for NDC80 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for NDC80

Alternative Splicing Database (ASD) splice patterns (SP) for NDC80 Gene

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

Relevant External Links for NDC80 Gene

GeneLoc Exon Structure for
NDC80

Expression for NDC80 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDC80 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDC80 Gene

This gene is overexpressed in Testis (x5.5).

Protein differential expression in normal tissues from HIPED for NDC80 Gene

This gene is overexpressed in Plasma (21.8), Breast (15.8), Bone (12.1), Monocytes (9.5), and Heart (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDC80 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDC80

SOURCE GeneReport for Unigene cluster for NDC80 Gene:

Hs.414407

Evidence on tissue expression from TISSUES for NDC80 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with NDC80: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDC80 Gene

Orthologs for NDC80 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDC80 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDC80 31 30
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDC80 31 30
  • 92.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDC80 31 30
  • 90.86 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndc80 30
  • 84.36 (n)
mouse
(Mus musculus)
Mammalia Ndc80 17 31 30
  • 84.19 (n)
oppossum
(Monodelphis domestica)
Mammalia NDC80 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDC80 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDC80 31 30
  • 73.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDC80 31
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndc80 30
  • 60.78 (n)
Str.15302 30
zebrafish
(Danio rerio)
Actinopterygii ndc80 31 30
  • 56.1 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3050 30
worm
(Caenorhabditis elegans)
Secernentea ndc-80 31
  • 19 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TID3 31
  • 20 (a)
OneToOne
NDC80 33
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G54630 30
  • 42.25 (n)
rice
(Oryza sativa)
Liliopsida Os08g0468400 30
  • 38.34 (n)
Species where no ortholog for NDC80 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDC80 Gene

ENSEMBL:
Gene Tree for NDC80 (if available)
TreeFam:
Gene Tree for NDC80 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDC80: view image

Paralogs for NDC80 Gene

genes like me logo Genes that share paralogs with NDC80: view

No data available for Paralogs for NDC80 Gene

Variants for NDC80 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDC80 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
711697 Benign: not provided 2,610,783(+) G/A SYNONYMOUS_VARIANT
771921 Benign: not provided 2,595,630(+) T/A INTRON_VARIANT
773333 Benign: not provided 2,587,844(+) C/T SYNONYMOUS_VARIANT
rs12456560 - p.Glu348Asp
rs16943490 - p.Ser66Ala

Additional dbSNP identifiers (rs#s) for NDC80 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDC80 Gene

Variant ID Type Subtype PubMed ID
esv1001812 CNV gain 20482838
esv1594787 CNV deletion 17803354
esv2089038 CNV deletion 18987734
esv2487024 CNV deletion 19546169
esv2671932 CNV deletion 23128226
esv2716679 CNV deletion 23290073
esv2761986 CNV gain 21179565
esv3893063 CNV loss 25118596
nsv1061548 CNV gain 25217958
nsv1065830 CNV gain 25217958
nsv1066735 CNV gain 25217958
nsv1066969 CNV gain 25217958
nsv1070861 CNV deletion 25765185
nsv1150812 CNV deletion 26484159
nsv131902 CNV deletion 16902084
nsv482935 CNV loss 15286789
nsv576251 CNV gain 21841781
nsv576311 CNV gain 21841781
nsv954106 CNV deletion 24416366

Variation tolerance for NDC80 Gene

Residual Variation Intolerance Score: 13.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.72; 83.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDC80 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDC80

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDC80 Gene

Disorders for NDC80 Gene

Additional Disease Information for NDC80

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NDC80 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NDC80 Gene

Publications for NDC80 Gene

  1. HEC, a novel nuclear protein rich in leucine heptad repeats specifically involved in mitosis. (PMID: 9315664) Chen Y … Lee WH (Molecular and cellular biology 1997) 2 3 4 23 54
  2. Hec1 sequentially recruits Zwint-1 and ZW10 to kinetochores for faithful chromosome segregation and spindle checkpoint control. (PMID: 16732327) Lin YT … Lee WH (Oncogene 2006) 3 4 23 54
  3. Sgt1 is required for human kinetochore assembly. (PMID: 15133482) Steensgaard P … Musacchio A (EMBO reports 2004) 3 4 23 54
  4. Phosphorylation of the mitotic regulator protein Hec1 by Nek2 kinase is essential for faithful chromosome segregation. (PMID: 12386167) Chen Y … Lee WH (The Journal of biological chemistry 2002) 3 4 23 54
  5. Role of Hec1 in spindle checkpoint signaling and kinetochore recruitment of Mad1/Mad2. (PMID: 12351790) Martin-Lluesma S … Nigg EA (Science (New York, N.Y.) 2002) 2 3 4 54

Products for NDC80 Gene

Sources for NDC80 Gene