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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NEK2
NIMA related kinase 2
Chromosome 1 Β· 1q32.3
NCBI Gene: 4751Ensembl: ENSG00000117650.13HGNC: HGNC:7745UniProt: F6U4U2
206PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of telomere maintenancekinetochoreprotein kinase activityprotein bindingretinitis pigmentosaRetinal dystrophydengue diseaseneurodegenerative disease
✦AI Summary

NEK2 is a serine/threonine kinase localized to the nucleus and cytoplasm that regulates critical cell cycle and centrosome processes 1. Primary functions include controlling centrosome duplication, spindle assembly, and chromosome 1 2. Beyond mitotic regulation, NEK2 phosphorylates PD-L1 at residues T194/T210 in the endoplasmic reticulum lumen, stabilizing PD-L1 and preventing its ubiquitin-proteasome degradation 3. NEK2 also regulates sphingolipid biosynthesis by controlling serine palmitoyl-CoA transferase activity in tumor-associated macrophages 4. NEK2 overexpression is strongly associated with poor prognosis across multiple solid tumors 5, with elevated expression linked to chr1 instability, aneuploidy, and centrosome amplification 1. In pancreatic cancer, NEK2 promotes immune evasion by maintaining PD-L1 stability, reducing lymphocyte infiltration 3. In hepatocellular carcinoma, NEK2-mediated sphingolipid synthesis in macrophages creates immunosuppression and confers checkpoint inhibitor resistance 4. NEK2 is implicated in drug resistance mechanisms, including trastuzumab resistance in breast cancer 2 and bortezomib resistance in multiple myeloma, where ammonium stabilizes NEK2 protein 6. NEK2 overexpression independently predicts adverse overall survival (HR=1.66) and disease-free survival (HR=2.00) 5. Small-molecule NEK2 inhibitors show therapeutic promise by suppressing PD-L1 expression, enhancing anti-tumor immunity, and reversing drug resistance 34.

Sources cited
1
NEK2 is a serine/threonine kinase in nucleus/cytoplasm; overexpressed in cancers; regulates chromosomal instability and aneuploidy
PMID: 39181803
2
NEK2 regulates centrosome duplication and spindle assembly; overexpression associated with poor prognosis and drug resistance in breast cancer
PMID: 24389189
3
NEK2 phosphorylates PD-L1 at T194/T210 in ER lumen to stabilize it; NEK2 inhibition reduces PD-L1 and enhances anti-pancreatic cancer immunity
PMID: 34315872
4
NEK2 controls sphingolipid biosynthesis in tumor-associated macrophages; NEK2 inhibition reduces immunosuppression and enhances immunotherapy response
PMID: 40397754
5
Meta-analysis of 17 studies: NEK2 overexpression associated with adverse overall survival (HR=1.66) and disease-free survival (HR=2.00)
PMID: 30578380
6
Ammonium stabilizes NEK2 protein to promote chromosomal instability and bortezomib resistance in multiple myeloma
PMID: 38113887
7
NEK2 identified as gene inducing cellular senescence; knockdown decreases cell number and activates senescence markers
PMID: 32264951
Disease Associationsβ“˜21
retinitis pigmentosaOpen Targets
0.51Moderate
Retinal dystrophyOpen Targets
0.41Moderate
dengue diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.29Weak
hepatocellular carcinomaOpen Targets
0.13Weak
neoplasmOpen Targets
0.12Weak
esophageal squamous cell carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
Miyoshi myopathyOpen Targets
0.10Weak
nonpapillary renal cell carcinomaOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.10Suggestive
triple-negative breast cancerOpen Targets
0.10Suggestive
cervical cancerOpen Targets
0.09Suggestive
multiple myelomaOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
cervical squamous cell carcinomaOpen Targets
0.08Suggestive
Retinitis pigmentosa 67UniProt
Pathogenic Variants5
NM_002497.4(NEK2):c.1270del (p.Ala424fs)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 424
NM_002497.4(NEK2):c.1027G>A (p.Asp343Asn)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 343
NM_002497.4(NEK2):c.1010G>C (p.Arg337Pro)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 337
NM_002497.4(NEK2):c.618_624del (p.Glu208fs)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 208
NM_002497.4(NEK2):c.617_624delinsA (p.Leu206fs)Pathogenic
Retinitis pigmentosa 67
β˜†β˜†β˜†β˜†2013β†’ Residue 206
View on ClinVar β†—
Related Genes
CEP55Protein interaction100%ANAPC4Protein interaction100%ANAPC10Protein interaction100%FZR1Protein interaction100%ASPMProtein interaction99%BUB1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
55%
Lung
2%
Liver
2%
Ovary
1%
Heart
1%
Gene Interaction Network
Click a node to explore
NEK2CEP55ANAPC4ANAPC10FZR1ASPMBUB1
PROTEIN STRUCTURE
Preparing viewer…
PDB2W5A Β· 1.55 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.65LoF Tolerant
pLIβ“˜
0.04Tolerant
Observed/Expected LoF0.45 [0.32–0.65]
RankingsWhere NEK2 stands among ~20K protein-coding genes
  • #2,032of 20,598
    Most Researched206 Β· top 10%
  • #3,485of 5,498
    Most Pathogenic Variants5
  • #4,679of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedNEK2
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
PMID: 20301590
1.00
2
NEK2 inhibition triggers anti-pancreatic cancer immunity by targeting PD-L1.
PMID: 34315872
Nat Commun Β· 2021
0.90
3
Identification of multidrug chemoresistant genes in head and neck squamous cell carcinoma cells.
PMID: 37667354
Mol Cancer Β· 2023
0.80
4
A multidimensional systems biology analysis of cellular senescence in aging and disease.
PMID: 32264951
Genome Biol Β· 2020
0.80
5
Prognostic significance of NEK2 in human solid tumors: a systematic review and meta-analysis.
PMID: 30578380
Biosci Rep Β· 2019
0.70