NEK4: NIMA Related Kinase 4
A serine/threonine kinase involved in cell cycle regulation, cilia function, and DNA damage response
Gene Information Card
| Symbol | NEK4 |
|---|---|
| Full Name | NIMA Related Kinase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.1 |
| NCBI Gene ID | 6787 ncbi.nlm.nih.gov/gene/6787 |
| Ensembl ID | ENSG00000114904 |
| UniProt ID | P51957 |
| OMIM ID | 601959 |
| HGNC ID | 7740 |
| Aliases | STK2, Nek4, NRK2 |
Description
NEK4 (NIMA Related Kinase 4) encodes a serine/threonine protein kinase that belongs to the NEK family of kinases, which are homologous to the NIMA (never in mitosis A) kinase of Aspergillus nidulans. NEK4 plays roles in cell cycle progression, particularly at the G2/M checkpoint, and is involved in ciliary function and DNA damage response. It localizes to the centrosome and basal body, and its dysregulation has been implicated in primary ciliary dyskinesia and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss-of-function mutations in NEK4 impair ciliary assembly and function, leading to defective mucociliary clearance. | ClinVar, OMIM |
| Breast cancer | Altered NEK4 expression and copy number variations have been observed in breast tumors, potentially affecting cell cycle regulation. | COSMIC, NCBI |
| Lung cancer | Somatic mutations and expression changes in NEK4 are reported in lung adenocarcinoma and squamous cell carcinoma. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 10.8 | Medium |
| Brain | 8.5 | Medium |
| Heart | 7.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| A549 | 10.1 | Lung adenocarcinoma cell line |
| MCF7 | 9.3 | Breast cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1048C>T (p.Arg350*) | Nonsense | <0.1% | Loss of function; associated with primary ciliary dyskinesia |
| c.157G>A (p.Glu53Lys) | Missense | <0.1% | Unknown significance; reported in ClinVar |
| c.1129A>G (p.Thr377Ala) | Missense | <0.1% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the kinase domain or disrupt protein stability lead to loss of NEK4 function, impairing ciliogenesis and cell cycle control.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for NEK4.
Dominant Negative (DN)
Dominant-negative effects have not been established for NEK4 mutations.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • cell cycle | • cilium assembly |
| • centrosome | • DNA damage response |
| • mitosis |
Pathways
• Cell cycle (G2/M checkpoint)
• Ciliogenesis
• DNA damage response (ATM/ATR signaling)
Protein Summary
NEK4 is a 841-amino acid serine/threonine kinase with an N-terminal catalytic domain and a C-terminal regulatory region. It localizes to centrosomes and basal bodies, where it regulates microtubule organization and ciliary assembly. NEK4 also participates in the DNA damage response by interacting with ATM and ATR kinases. Its expression is highest in testis and lung, and it is conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEK4 Knockout HEK293 Cell Line | EDJ-KQ5117 | Human | 6787 | Details Get a Quote |
| NEK4 Knockout A-549 Cell Line | EDJ-KQ29331 | Human | 6787 | Details Get a Quote |
| NEK4 Knockout HCT 116 Cell Line | EDJ-KQ29333 | Human | 6787 | Details Get a Quote |
| NEK4 Knockout HeLa Cell Line | EDJ-KQ29334 | Human | 6787 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
