HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CEP162
centrosomal protein 162
Chromosome 6 · 6q14.2-q14.3
NCBI Gene: 22832Ensembl: ENSG00000135315.13HGNC: HGNC:21107UniProt: Q5TB80
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
centriolecentrosomenucleoplasmcilium assemblydyshidrosisAbnormality of the skeletal systemmultiple sclerosisgout
✦AI Summary

CEP162 (centrosomal protein 162, also known as KIAA1009) is a centrosomal and microtubule-associated protein essential for primary cilia assembly and neuronal function. Primary function: CEP162 acts as an axoneme-recognition protein that promotes transition zone assembly at the ciliary base by directly binding axonemal microtubules 1. It localizes to distal centriole ends before ciliogenesis and mediates recruitment of transition zone components, including CEP290, to microtubules 1. Mechanism: CEP162 tethers at centriole distal ends to restrict transition zone formation specifically at the cilia base; loss of this tethering causes ectopic transition zone assembly at cilia tips, generating abnormally long cilia 1. During mitosis, CEP162 localizes to spindle poles and is required for proper chromosome 6 and centrosome separation 2. Disease relevance: Homozygous truncating CEP162 variants cause late-onset retinitis pigmentosa through specific loss of ciliary function while retaining neurogenic capacity 3. A CEP162 polymorphism (rs9362054) associates with nonproliferative diabetic retinopathy susceptibility in Chinese populations 4, and this SNP shows borderline genome-wide significance in Japanese diabetic retinopathy studies 5. Clinical significance: CEP162 dysfunction represents a ciliopathy mechanism causing progressive retinal degeneration, highlighting the critical role of ciliary transition zones in photoreceptor maintenance.

Sources cited
1
CEP162 is an axoneme-recognition protein that promotes transition zone assembly, localizes at centriole distal ends, and mediates association of transition zone components with microtubules
PMID: 23644468
2
CEP162 deficiency causes late-onset retinitis pigmentosa through loss of ciliary function while retaining neurogenic roles
PMID: 36862503
3
CEP162 rs9362054 polymorphism associates with nonproliferative diabetic retinopathy in Chinese populations
PMID: 37066695
4
CEP162 rs9362054 shows borderline genome-wide significance for diabetic retinopathy; CEP162 plays critical role in ciliary transition zone formation
PMID: 25364816
5
CEP162/KIAA1009 is a microtubule-associated ATPase localized to spindle poles required for chromosome segregation and centrosome separation
PMID: 16302001
6
CEP162 is a distal microtubule tip protein that participates in the luminal ring network organizing distal centriole structure
PMID: 41364719
Disease Associationsⓘ20
dyshidrosisOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.26Weak
goutOpen Targets
0.21Weak
osteoarthritis, kneeOpen Targets
0.20Weak
total knee arthroplastyOpen Targets
0.20Weak
kidney transplantOpen Targets
0.19Weak
fibula fractureOpen Targets
0.19Weak
tibia fractureOpen Targets
0.19Weak
pancreatic carcinomaOpen Targets
0.18Weak
kidney diseaseOpen Targets
0.17Weak
response to antihypertensive drugOpen Targets
0.03Suggestive
joint diseaseOpen Targets
0.03Suggestive
sleep apneaOpen Targets
0.03Suggestive
Genu varumOpen Targets
0.02Suggestive
ovarian dysfunctionOpen Targets
0.02Suggestive
Pathologic fractureOpen Targets
0.02Suggestive
anxiety disorderOpen Targets
0.02Suggestive
rectosigmoid junction neoplasmOpen Targets
0.02Suggestive
Genu valgumOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CIBAR2Shared pathway100%CFAP184Shared pathway100%HYLS1Shared pathway100%LRRC45Shared pathway100%WDR90Shared pathway100%PTPDC1Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
93%
Lung
57%
Heart
54%
Liver
46%
Brain
34%
Gene Interaction Network
Click a node to explore
CEP162CIBAR2CFAP184HYLS1LRRC45WDR90PTPDC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5TB80
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.71–1.10]
RankingsWhere CEP162 stands among ~20K protein-coding genes
  • #10,145of 20,598
    Most Researched40
  • #11,247of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedCEP162
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
PMID: 36862503
J Clin Invest · 2023
1.00
2
The association of five polymorphisms with diabetic retinopathy in a Chinese population.
PMID: 37066695
Ophthalmic Genet · 2023
0.88
3
Genetic determinants of ammonia-induced acute lung injury in mice.
PMID: 33050709
Am J Physiol Lung Cell Mol Physiol · 2021
0.75
4
The luminal ring protein C2CD3 acts as a radial in-to-out organizer of the distal centriole and appendages.
PMID: 41364719
PLoS Biol · 2025
0.63
5
Genomewide association studies of suicide attempts in US soldiers.
PMID: 28902444
Am J Med Genet B Neuropsychiatr Genet · 2017
0.50