NEK7 Gene: Structure, Function, and Disease Relevance
A comprehensive overview of NEK7, a serine/threonine kinase involved in cell cycle regulation and NLRP3 inflammasome activation.
Gene Information Card
| Symbol | NEK7 |
|---|---|
| Full Name | NIMA-related kinase 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 140609 ncbi.nlm.nih.gov/gene/140609 |
| Ensembl ID | ENSG00000151414 |
| UniProt ID | Q8TDX7 |
| OMIM ID | 604961 |
| HGNC ID | 13382 |
| Aliases | NIMA-related kinase 7; Never in mitosis gene a-related kinase 7 |
Description
NEK7 (NIMA-related kinase 7) is a serine/threonine kinase belonging to the NIMA (never in mitosis gene A) family. It plays critical roles in cell cycle regulation, particularly in mitotic spindle formation and cytokinesis. Additionally, NEK7 is a key component of the NLRP3 inflammasome, where it bridges NLRP3 to ASC, facilitating inflammasome assembly and IL-1β/IL-18 maturation. NEK7 is widely expressed and its dysregulation has been implicated in various cancers and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or altered kinase activity promotes cell proliferation and mitotic defects | COSMIC; multiple studies |
| Inflammatory diseases (e.g., gout, atherosclerosis) | Enhanced NLRP3 inflammasome activation via NEK7-NLRP3 interaction | ClinVar; literature |
| Autoinflammatory syndromes | Gain-of-function mutations in NEK7 may lead to constitutive inflammasome activation | ClinVar; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Testis | 8.5 | Low |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression; used in cell cycle studies |
| HEK293 | 12.8 | Moderate expression; common for inflammasome assays |
| THP-1 | 18.4 | High expression; monocytic cell line used for NLRP3 studies |
| MCF7 | 9.5 | Moderate expression; breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.110C>T (p.Thr37Met) | Missense | 0.01% (gnomAD) | Potential loss of kinase activity; associated with reduced inflammasome function |
| c.487G>A (p.Gly163Arg) | Missense | 0.005% (gnomAD) | Impaired mitotic progression; observed in cancer samples |
| c.1024A>G (p.Thr342Ala) | Missense | 0.02% (gnomAD) | Altered kinase activity; may affect NLRP3 binding |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in NEK7 impair kinase activity or protein stability, leading to defective mitotic progression and reduced NLRP3 inflammasome activation, resulting in immunodeficiency or increased susceptibility to infections.
Gain of Function (GOF)
Gain-of-function mutations enhance NEK7 kinase activity or NLRP3 binding, leading to hyperactivation of the inflammasome and excessive inflammatory cytokine production, contributing to autoinflammatory diseases.
Dominant Negative (DN)
Dominant-negative mutations produce a defective NEK7 protein that interferes with wild-type function, disrupting both cell cycle regulation and inflammasome signaling, potentially causing developmental or inflammatory phenotypes.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • mitotic cell cycle | • NLRP3 inflammasome complex |
| • cytokine production | • cell division |
| • spindle organization | • protein phosphorylation |
Pathways
• NLRP3 inflammasome pathway
• Cell cycle
• mitotic
• Regulation of IL-1 family cytokines
Protein Summary
NEK7 is a 34 kDa protein consisting of an N-terminal kinase domain and a C-terminal regulatory domain. It localizes to the centrosome and mitotic spindle during mitosis, where it regulates spindle assembly and cytokinesis. In interphase, NEK7 interacts with NLRP3 to promote inflammasome assembly upon activation signals. The protein is auto-phosphorylated and its activity is regulated by cell cycle-dependent phosphorylation. NEK7 is essential for both cell division and innate immune responses, making it a potential therapeutic target in cancer and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEK7 Knockout HEK293 Cell Line | EDJ-KQ3285 | Human | 140609 | Details Get a Quote |
| NEK7 Knockout A-549 Cell Line | EDJ-KQ24851 | Human | 140609 | Details Get a Quote |
| NEK7 Knockout HCT 116 Cell Line | EDJ-KQ24852 | Human | 140609 | Details Get a Quote |
| NEK7 Knockout HeLa Cell Line | EDJ-KQ24853 | Human | 140609 | Details Get a Quote |
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