NUF2: A Key Component of the NDC80 Kinetochore Complex
Essential for Chromosome Segregation and Mitotic Fidelity
Gene Information Card
| Symbol | NUF2 |
|---|---|
| Full Name | NUF2 component of NDC80 kinetochore complex |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 83540 ncbi.nlm.nih.gov/gene/83540 |
| Ensembl ID | ENSG00000143228 |
| UniProt ID | Q9BZD4 |
| OMIM ID | 611772 |
| HGNC ID | 14621 |
| Aliases | CDCA1, NUF2R, hNuf2, FLJ10404 |
Description
NUF2 (NUF2 component of NDC80 kinetochore complex) encodes a protein that is a core component of the NDC80 kinetochore complex, which is essential for proper chromosome segregation during mitosis. The NDC80 complex mediates microtubule attachment to kinetochores and is required for spindle checkpoint signaling. NUF2 is overexpressed in various cancers and is associated with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of NUF2 promotes cell proliferation and aneuploidy via aberrant kinetochore-microtubule attachment | PMID: 25605274 |
| Lung adenocarcinoma | NUF2 upregulation correlates with tumor stage and poor survival; knockdown reduces proliferation | PMID: 31065109 |
| Colorectal cancer | NUF2 is a target of the E2F transcription factor and drives mitotic defects | PMID: 29187737 |
| Hepatocellular carcinoma | High NUF2 expression linked to metastasis and poor prognosis | PMID: 30186141 |
| Ovarian cancer | NUF2 amplification and overexpression associated with chromosomal instability | PMID: 23542377 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Bone marrow | 15.7 | Medium |
| Lymph node | 12.4 | Medium |
| Spleen | 10.1 | Medium |
| Brain | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical carcinoma) | 45.3 | High expression; used in mitotic studies |
| A549 (lung adenocarcinoma) | 32.1 | Overexpressed relative to normal lung |
| MCF7 (breast cancer) | 28.7 | Elevated; correlates with proliferation |
| HCT116 (colorectal carcinoma) | 40.5 | Knockdown reduces viability |
| K562 (leukemia) | 22.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% (gnomAD) | Unknown; rare variant |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% (gnomAD) | Unknown; predicted damaging by SIFT |
| c.739C>T (p.Arg247Trp) | Missense | <0.01% (gnomAD) | Unknown; located in coiled-coil domain |
| Amplification | Copy number gain | ~5% in breast cancer (TCGA) | May drive overexpression |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human disease; experimental knockdown in cell lines leads to mitotic arrest and cell death.
Gain of Function (GOF)
Overexpression (often via gene amplification) is observed in multiple cancers, promoting proliferation and aneuploidy.
Dominant Negative (DN)
Not described for NUF2.
View complete mutation data：
Gene Ontology (GO)
| • kinetochore (GO:0000776) | • condensed chromosome kinetochore (GO:0000777) |
| • spindle (GO:0005819) | • chromosome segregation (GO:0007059) |
| • mitotic spindle assembly checkpoint (GO:0007094) | • microtubule binding (GO:0008017) |
| • cell division (GO:0051301) |
Pathways
• KEGG hsa04110: Cell cycle
• Reactome R-HSA-141444: Amplification of signal from the kinetochores
• Reactome R-HSA-2500257: Resolution of Sister Chromatid Cohesion
• Reactome R-HSA-68877: Mitotic Prometaphase
Protein Summary
NUF2 is a 464-amino-acid protein (UniProt Q9BZD4) that forms a heterodimer with NDC80 (HEC1) within the NDC80 complex. It contains a coiled-coil domain and a calponin homology (CH) domain. The protein localizes to the outer kinetochore and directly binds microtubules. NUF2 is essential for mitotic progression and is regulated by cell cycle-dependent phosphorylation.
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