NEK10: NIMA Related Kinase 10
A dual-specificity kinase involved in ciliary function, cell cycle regulation, and DNA damage response
Gene Information Card
| Symbol | NEK10 |
|---|---|
| Full Name | NIMA Related Kinase 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p24.1 |
| NCBI Gene ID | 152110 ncbi.nlm.nih.gov/gene/152110 |
| Ensembl ID | ENSG00000163491 |
| UniProt ID | Q6ZWH5 |
| OMIM ID | 609898 |
| HGNC ID | 18592 |
| Aliases | FLJ32627, MGC138499 |
Description
NEK10 encodes a member of the NIMA (never in mitosis A) family of serine/threonine kinases. The protein is a dual-specificity kinase that phosphorylates both serine/threonine and tyrosine residues. NEK10 localizes to cilia and plays a critical role in ciliary length control and mucociliary clearance. It also functions in the DNA damage response by mediating G2/M checkpoint arrest after UV irradiation. Mutations in NEK10 are associated with primary ciliary dyskinesia and have been implicated in breast cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss-of-function mutations impair ciliary length regulation and mucociliary clearance, leading to respiratory tract defects. | OMIM #618781; PMID: 27507099 |
| Breast cancer susceptibility | Common variants in NEK10 are associated with increased risk of breast cancer, possibly through altered DNA damage response. | PMID: 23535729; GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Fallopian tube | 7.1 | Medium |
| Thyroid | 6.4 | Low |
| Kidney | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 10.1 | Detectable |
| HepG2 (hepatocellular carcinoma) | 4.8 | Low |
| K562 (leukemia) | 2.3 | Very low |
| HeLa (cervical adenocarcinoma) | 6.7 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function; associated with PCD |
| c.1675G>A (p.Gly559Arg) | Missense | Rare | Likely damaging; disrupts kinase activity |
| rs10510520 (intronic) | SNP | Common (MAF ~0.15) | Risk allele for breast cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in NEK10 lead to truncated protein or nonsense-mediated decay, resulting in ciliary dysfunction and PCD.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NEK10.
Dominant Negative (DN)
Not established; NEK10 mutations are typically recessive in PCD.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:213 – DNA damage response (ATM signaling)
• REACT:172623 – Cilium assembly and regulation
• REACT:111102 – Cell cycle checkpoints
Protein Summary
NEK10 is a 1,082-amino-acid dual-specificity kinase with an N-terminal kinase domain and a C-terminal regulatory region. It localizes to the base of cilia and interacts with other NEK family members to control ciliary length. Upon UV-induced DNA damage, NEK10 is activated and phosphorylates substrates to enforce G2/M arrest. The protein also contains a coiled-coil domain that mediates homodimerization and is essential for its kinase activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEK10 Knockout HEK293 Cell Line | EDJ-KQ10694 | Human | 152110 | Details Get a Quote |
| NEK10 Knockout A-549 Cell Line | EDJ-KQ39571 | Human | 152110 | Details Get a Quote |
| NEK10 Knockout HCT 116 Cell Line | EDJ-KQ39573 | Human | 152110 | Details Get a Quote |
| NEK10 Knockout HeLa Cell Line | EDJ-KQ39574 | Human | 152110 | Details Get a Quote |
