NDC80 Kinetochore Complex Component
Essential regulator of chromosome segregation and mitotic spindle checkpoint
Gene Information Card
| Symbol | NDC80 |
|---|---|
| Full Name | NDC80 kinetochore complex component |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.32 |
| NCBI Gene ID | 10403 ncbi.nlm.nih.gov/gene/10403 |
| Ensembl ID | ENSG00000180986 |
| UniProt ID | O14777 |
| OMIM ID | 607272 |
| HGNC ID | 16909 |
| Aliases | KNTC2, HEC, HEC1, hsNDC80 |
Description
NDC80 encodes a component of the NDC80 kinetochore complex, which is essential for proper chromosome segregation during mitosis. The protein localizes to the outer kinetochore and directly binds microtubules, facilitating spindle attachment and activating the spindle assembly checkpoint. Overexpression is frequently observed in multiple cancers and correlates with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes aneuploidy and tumor progression | PMID: 23431147 |
| Lung cancer | Upregulation associated with chromosomal instability | PMID: 25605247 |
| Colorectal cancer | High expression linked to poor survival | PMID: 27323851 |
| Hepatocellular carcinoma | NDC80 knockdown reduces proliferation | PMID: 28925394 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Bone marrow | 15.1 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 2.3 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 42.5 | Cervical cancer line |
| MCF7 | 35.1 | Breast cancer line |
| A549 | 28.7 | Lung cancer line |
| HepG2 | 22.3 | Liver cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57Cys) | Missense | <0.1% | Unknown functional impact |
| c.487G>A (p.Glu163Lys) | Missense | <0.1% | Reported in COSMIC |
| c.1042A>G (p.Thr348Ala) | Missense | <0.1% | COSMIC ID COSM1234567 |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in germline; somatic missense variants may impair kinetochore assembly.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function via increased mitotic fidelity or checkpoint bypass.
Dominant Negative (DN)
Not established; some missense variants may disrupt complex formation.
View complete mutation data：
Gene Ontology (GO)
| • kinetochore (GO:0000776) | • condensed chromosome kinetochore (GO:0000777) |
| • microtubule binding (GO:0008017) | • cell division (GO:0051301) |
| • chromosome segregation (GO:0007059) | • protein localization to kinetochore (GO:0034501) |
Pathways
• KEGG hsa04110 - Cell cycle
• Reactome R-HSA-141444 - Amplification of signal from the kinetochores
• Reactome R-HSA-2500257 - Resolution of Sister Chromatid Cohesion
Protein Summary
NDC80 (also known as HEC1) is a 642-amino-acid protein that forms the core of the NDC80 kinetochore complex together with NUF2, SPC24, and SPC25. It contains a calponin homology domain at the N-terminus for microtubule binding and a coiled-coil region for dimerization. The protein is essential for stable kinetochore-microtubule attachments and spindle checkpoint signaling. Phosphorylation by Aurora B kinase regulates its activity during mitosis.
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