NEK11: NIMA Related Kinase 11
A cell cycle regulator kinase with emerging roles in cancer and ciliopathies
Gene Information Card
| Symbol | NEK11 |
|---|---|
| Full Name | NIMA Related Kinase 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 79858 ncbi.nlm.nih.gov/gene/79858 |
| Ensembl ID | ENSG00000114670 |
| UniProt ID | Q8NG66 |
| OMIM ID | 609779 |
| HGNC ID | 18593 |
| Aliases | FLJ23495, MGC138207 |
Description
NEK11 (NIMA Related Kinase 11) encodes a serine/threonine protein kinase belonging to the NEK family of cell cycle regulators. It is involved in G2/M phase checkpoint control, DNA damage response, and cilia function. NEK11 phosphorylates and activates the checkpoint kinase CHK2 in response to replication stress, and its dysregulation is implicated in cancer and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NEK11 overexpression may promote cell cycle progression and genomic instability; altered expression linked to poor prognosis. | COSMIC; PMID: 23555249 |
| Colorectal cancer | NEK11 mutations and copy number alterations observed; potential role in DNA damage response defects. | COSMIC; PMID: 25741868 |
| Ciliopathy (nephronophthisis-like) | NEK11 interacts with ciliary proteins; mutations may disrupt cilia function leading to renal disease. | OMIM #609779; PMID: 23555249 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Brain (cerebellum) | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney; moderate expression |
| HeLa | 7.5 | Cervical carcinoma; moderate |
| MCF7 | 6.8 | Breast cancer; moderate |
| HCT116 | 5.2 | Colorectal carcinoma; low-moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.1% | Unknown; located in kinase domain |
| c.1450G>A (p.Glu484Lys) | Missense | <0.1% | Unknown; located in C-terminal region |
| c.1861_1862insA (p.Thr621Asnfs*2) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in NEK11 are predicted to cause loss of kinase activity, impairing DNA damage checkpoint signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression in some cancers may mimic gain-of-function.
Dominant Negative (DN)
No dominant-negative mutations described in literature.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • cell cycle | • G2/M transition of mitotic cell cycle |
| • DNA damage response | • cilium assembly |
| • protein phosphorylation |
Pathways
• Cell Cycle Checkpoints (Reactome R-HSA-69620)
• DNA Damage Response (Reactome R-HSA-73894)
• Cilium Assembly (Reactome R-HSA-5620912)
Protein Summary
NEK11 is a 645-amino acid serine/threonine kinase with an N-terminal catalytic domain and a C-terminal regulatory region. It localizes to the nucleus and centrosome, and is essential for the G2/M DNA damage checkpoint. NEK11 directly phosphorylates CHK2 at Thr68, activating the checkpoint kinase cascade. It also interacts with ciliary proteins such as NPHP1 and NPHP4, suggesting a role in primary cilia function. Alternative splicing produces multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEK11 Knockout HEK293 Cell Line | EDJ-KQ14410 | Human | 79858 | Details Get a Quote |
| NEK11 Knockout A-549 Cell Line | EDJ-KQ44606 | Human | 79858 | Details Get a Quote |
| NEK11 Knockout HCT 116 Cell Line | EDJ-KQ44607 | Human | 79858 | Details Get a Quote |
| NEK11 Knockout HeLa Cell Line | EDJ-KQ57245 | Human | 79858 | Details Get a Quote |
