NEK9 (NIMA Related Kinase 9): A Key Mitotic Regulator and Emerging Cancer Biomarker
Explore the genomic architecture, expression patterns, disease associations, and mutational landscape of NEK9, a serine/threonine kinase essential for mitotic spindle formation and cytokinesis.
Gene Information Card
| Symbol | NEK9 |
|---|---|
| Full Name | NIMA related kinase 9 |
| Gene Type | protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 91754 ncbi.nlm.nih.gov/gene/91754 |
| Ensembl ID | ENSG00000119638 |
| UniProt ID | Q8TD19 |
| OMIM ID | 609798 |
| HGNC ID | 18591 |
| Aliases | Nercc1, NEK8, Nek9, NERCC1 |
Description
NEK9 (NIMA related kinase 9) encodes a serine/threonine kinase belonging to the NIMA (never in mitosis A) family. It plays a critical role in mitotic progression, particularly in centrosome separation, spindle formation, and cytokinesis. NEK9 is activated during mitosis and phosphorylates downstream targets such as NEK6 and NEK7. It is widely expressed and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis-like phenotype | NEK9 mutations impair ciliary function and mitotic progression, leading to renal cystic disease. | ClinVar, OMIM |
| Cancer (multiple types) | Overexpression or mutations in NEK9 promote tumorigenesis via dysregulated mitosis and genomic instability. | COSMIC, PubMed |
| Primary microcephaly | Biallelic loss-of-function mutations in NEK9 cause microcephaly due to defective neurogenesis. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.4 | High |
| Bone marrow | 18.2 | Medium |
| Lymph node | 15.6 | Medium |
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 20.5 | Cervical carcinoma; high expression |
| K562 | 15.2 | Chronic myelogenous leukemia |
| A549 | 12.8 | Lung carcinoma |
| MCF7 | 10.1 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1646A>G (p.Asn549Ser) | Missense | Rare | Potential gain-of-function; associated with cancer |
| c.2140C>T (p.Arg714Trp) | Missense | Rare | Loss-of-function; linked to microcephaly |
| c.1450_1451del (p.Leu484fs) | Frameshift | Very rare | Loss-of-function; causes truncated protein |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in NEK9 impair kinase activity, leading to mitotic defects and ciliary dysfunction, as seen in microcephaly and nephronophthisis.
Gain of Function (GOF)
Gain-of-function mutations may enhance kinase activity, promoting uncontrolled cell proliferation and tumorigenesis, though specific variants are not yet fully characterized.
Dominant Negative (DN)
Dominant-negative effects have been suggested for some missense mutations that disrupt protein interactions, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • centrosome | • mitotic spindle |
| • cell division | • cytokinesis |
| • cilium assembly | • protein phosphorylation |
Pathways
• Mitotic G2-G2/M phases
• Cell Cycle
• Regulation of PLK1 Activity at G2/M Transition
• Centrosome maturation
Protein Summary
NEK9 is a 979-amino-acid protein with an N-terminal kinase domain and a C-terminal regulatory domain containing RCC1-like repeats. It is auto-phosphorylated during mitosis and activates NEK6/NEK7. NEK9 localizes to centrosomes and the mitotic spindle, regulating microtubule dynamics. It also interacts with the BBSome complex, linking it to ciliary function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEK9 Knockout HEK293 Cell Line | EDJ-KQ10777 | Human | 91754 | Details Get a Quote |
| NEK9 Knockout A-549 Cell Line | EDJ-KQ38397 | Human | 91754 | Details Get a Quote |
| NEK9 Knockout HCT 116 Cell Line | EDJ-KQ38398 | Human | 91754 | Details Get a Quote |
| NEK9 Knockout HeLa Cell Line | EDJ-KQ38399 | Human | 91754 | Details Get a Quote |
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