NEK2: A Key Regulator of Centrosome Duplication and Cell Cycle Progression
Comprehensive gene card for NEK2 (NIMA-related kinase 2), including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | NEK2 |
|---|---|
| Full Name | NIMA-related kinase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 4751 ncbi.nlm.nih.gov/gene/4751 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | P51955 |
| OMIM ID | 604043 |
| HGNC ID | 7746 |
| Aliases | NLK1, NEK2A, HsPK21 |
Description
NEK2 encodes a serine/threonine-protein kinase that is essential for centrosome duplication and separation during the cell cycle. It phosphorylates key substrates such as CEP250 and NINL to regulate centrosome cohesion and mitotic progression. Overexpression of NEK2 is frequently observed in various cancers and is associated with chromosomal instability and poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NEK2 overexpression promotes centrosome amplification and aneuploidy | PMID: 23431147 |
| Colorectal cancer | NEK2 upregulation correlates with tumor progression and metastasis | PMID: 25636847 |
| Hepatocellular carcinoma | NEK2 drives cell proliferation and resistance to apoptosis | PMID: 27323851 |
| Multiple myeloma | NEK2 overexpression linked to drug resistance and poor survival | PMID: 20628033 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Bone marrow | 18.2 | Medium |
| Lymph node | 12.1 | Medium |
| Breast | 4.8 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.0 | Cervical cancer cell line |
| MCF7 | 18.5 | Breast cancer cell line |
| HCT116 | 22.3 | Colorectal cancer cell line |
| HEK293 | 6.7 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109G>A (p.Glu37Lys) | Missense | 0.02% (COSMIC) | Unknown functional impact |
| c.487C>T (p.Arg163Trp) | Missense | 0.01% (COSMIC) | Potential loss of kinase activity |
| c.1015A>G (p.Ile339Val) | Missense | 0.03% (COSMIC) | Reported in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg163Trp) may reduce kinase activity, impairing centrosome separation.
Gain of Function (GOF)
Gene amplification and overexpression in tumors act as a gain-of-function, driving centrosome amplification.
Dominant Negative (DN)
Not well documented; some truncating mutations may exert dominant-negative effects by interfering with dimerization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• Centrosome maturation (Reactome: R-HSA-380259)
• Regulation of PLK1 activity (Reactome: R-HSA-2565942)
Protein Summary
NEK2 is a 445-amino-acid serine/threonine kinase with an N-terminal catalytic domain and a C-terminal regulatory domain. It localizes to centrosomes and is highly expressed in mitotic cells. NEK2 phosphorylates multiple centrosomal proteins to trigger centrosome disjunction at the G2/M transition. Its activity is tightly regulated by cell cycle-dependent degradation and autophosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEK2 Knockout HEK293 Cell Line | EDJ-KQ2991 | Human | 4751 | Details Get a Quote |
| NEK2 Knockout A-549 Cell Line | EDJ-KQ25549 | Human | 4751 | Details Get a Quote |
| NEK2 Knockout HCT 116 Cell Line | EDJ-KQ25551 | Human | 4751 | Details Get a Quote |
| NEK2 Knockout HeLa Cell Line | EDJ-KQ25552 | Human | 4751 | Details Get a Quote |
