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GeneE
10 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.
CEP250
centrosomal protein 250
Chromosome 20 Β· 20q11.22
NCBI Gene: 11190Ensembl: ENSG00000126001.17HGNC: HGNC:1859UniProt: A0A9L9PXD2
93PubMed Papers
21Diseases
0Drugs
102Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
centrioleprotein bindingprotein domain specific bindingmitotic cell cyclecone-rod dystrophy and hearing lossRetinal dystrophyinherited retinal dystrophyUsher syndrome
✦AI Summary

CEP250 encodes C-Nap1, a centrosomal protein essential for maintaining centrosome cohesion during interphase 12. The protein accumulates at centriole proximal ends and recruits CCDC102B, forming supramolecular assemblies with viscous properties that generate intercentriolar linkages 12. CEP250 plays critical roles in asymmetric cell division and stem cell maintenance; CEP250-deficient mice show premature centrosome separation leading to germ stem cell depletion and infertility 3. The protein is also involved in ciliogenesis and photoreceptor function 4. Loss-of-function CEP250 mutations cause nonsyndromic retinitis pigmentosa and progressive sensorineural hearing loss through centrosome localization defects and hair cell degeneration 45. Mutations in CEP250 are associated with atypical Usher syndrome presenting with combined retinal dystrophy and hearing loss 6, and acephalic spermatozoa syndrome affecting sperm head-tail connection 7. Clinically, CEP250 expression levels correlate with hepatocellular carcinoma and pancreatic cancer prognosis; high CEP250 expression associates with altered centrosome organization and poor patient outcomes 89. CEP250 represents a novel therapeutic target, with small-molecule inhibitors demonstrating potential antiviral activity against SARS-CoV-2 10.

Sources cited
1
CEP250 plays role in centrosome cohesion and recruits CCDC102B to centriole proximal ends
PMID: 30404835
2
CEP250 maintains centrosome cohesion through intercentriolar linkages and forms supramolecular assemblies
PMID: 36282799
3
CEP250 is essential for asymmetric cell division, stem cell maintenance, and fertility in mice
PMID: 35599622
4
CEP250 mutations cause nonsyndromic retinitis pigmentosa with retinal function impairment
PMID: 30998843
5
CEP250 nonsense variants cause progressive sensorineural hearing loss through centrosome localization defects and hair cell degeneration
PMID: 37759551
6
CEP250 mutations are associated with atypical Usher syndrome presenting retinal dystrophy and hearing loss
PMID: 39610034
7
CEP250 loss-of-function mutations cause acephalic spermatozoa syndrome affecting sperm head-tail connection
PMID: 39726222
8
CEP250 expression is elevated in hepatocellular carcinoma and associates with patient survival
PMID: 33109182
9
High CEP250 expression in pancreatic cancer correlates with altered centriolar cohesion and poor prognosis
PMID: 38942662
10
Small-molecule inhibitors targeting CEP250 demonstrate potential antiviral activity and expand druggability limits
PMID: 32606248
Disease Associationsβ“˜21
cone-rod dystrophy and hearing lossOpen Targets
0.78Strong
Retinal dystrophyOpen Targets
0.55Moderate
inherited retinal dystrophyOpen Targets
0.37Weak
Usher syndromeOpen Targets
0.34Weak
Abnormality of the skeletal systemOpen Targets
0.30Weak
optic atrophyOpen Targets
0.16Weak
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
response to statinOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
Cone-rod dystrophy and hearing loss 2UniProt
Pathogenic Variants102
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)Pathogenic
Cone-rod dystrophy and hearing loss 2|Usher syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1155
NM_007186.6(CEP250):c.2654_2675del (p.Met885fs)Pathogenic
not provided|Cone-rod dystrophy and hearing loss 2
β˜…β˜…β˜†β˜†2025β†’ Residue 885
NM_007186.6(CEP250):c.2647del (p.Glu883fs)Pathogenic
not provided|CEP250-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 883
NM_007186.6(CEP250):c.5050del (p.Asp1684fs)Pathogenic
not provided|Cone-rod dystrophy and hearing loss 2
β˜…β˜…β˜†β˜†2025β†’ Residue 1684
NM_007186.6(CEP250):c.5383dup (p.Glu1795fs)Pathogenic
not provided|Cone-rod dystrophy and hearing loss 2
β˜…β˜…β˜†β˜†2025β†’ Residue 1795
NM_007186.6(CEP250):c.5083C>T (p.Arg1695Ter)Pathogenic
CEP250-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1695
NM_007186.6(CEP250):c.4027C>T (p.Arg1343Ter)Pathogenic
not provided|Cone-rod dystrophy and hearing loss 2|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2024β†’ Residue 1343
NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter)Pathogenic
not provided|CEP250-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 1031
NM_007186.6(CEP250):c.2155C>T (p.Arg719Ter)Pathogenic
not provided|Cone-rod dystrophy and hearing loss 2
β˜…β˜…β˜†β˜†2023β†’ Residue 719
NM_007186.6(CEP250):c.562C>T (p.Arg188Ter)Pathogenic
Cone-rod dystrophy and hearing loss 2|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 188
NM_007186.6(CEP250):c.4272_4273delinsT (p.Leu1425fs)Pathogenic
not provided|Cone-rod dystrophy and hearing loss 2
β˜…β˜…β˜†β˜†2023β†’ Residue 1425
NM_007186.6(CEP250):c.2206C>T (p.Arg736Ter)Pathogenic
not provided|Cone-rod dystrophy and hearing loss 2
β˜…β˜…β˜†β˜†2022β†’ Residue 736
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)Pathogenic
Cone-rod dystrophy and hearing loss 2|not provided|Gastric cancer
β˜…β˜…β˜†β˜†2022β†’ Residue 1336
NM_007186.6(CEP250):c.4451del (p.Lys1484fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 1484
NM_007186.6(CEP250):c.3167+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_007186.6(CEP250):c.2094+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_007186.6(CEP250):c.2388dup (p.Val797fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 797
NM_007186.6(CEP250):c.5410C>T (p.Gln1804Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1804
NM_007186.6(CEP250):c.4222C>T (p.Gln1408Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1408
NM_007186.6(CEP250):c.1209+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
FKBP1AProtein interaction91%PLK1Protein interaction91%NEK2Protein interaction89%CNTRLProtein interaction89%LRRC45Protein interaction83%CEP78Protein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
77%
Ovary
70%
Lung
42%
Heart
39%
Liver
35%
Gene Interaction Network
Click a node to explore
CEP250FKBP1APLK1NEK2CNTRLLRRC45CEP78
PROTEIN STRUCTURE
Preparing viewer…
PDB6OQA Β· 2.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.86LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.69–0.86]
RankingsWhere CEP250 stands among ~20K protein-coding genes
  • #5,129of 20,598
    Most Researched93 Β· top quartile
  • #758of 5,498
    Most Pathogenic Variants102 Β· top quartile
  • #7,531of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedCEP250
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma.
PMID: 33109182
BMC Med Genomics Β· 2020
1.00
2
Altered centriolar cohesion by CEP250 and appendages impact outcome of patients with pancreatic cancer.
PMID: 38942662
Pancreatology Β· 2024
0.90
3
A homozygous loss-of-function mutation in CEP250 is associated with acephalic spermatozoa syndrome in humans.
PMID: 39726222
Andrology Β· 2025
0.80
4
Centrosome linker protein C-Nap1 maintains stem cells in mouse testes.
PMID: 35599622
EMBO Rep Β· 2022
0.70
5
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.
PMID: 30998843
Hum Mutat Β· 2019
0.60