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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CCDC102B
coiled-coil domain containing 102B
Chromosome 18 · 18q22.1
NCBI Gene: 79839Ensembl: ENSG00000150636.18HGNC: HGNC:26295UniProt: Q68D86
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein serine/threonine kinase bindingcentriole-centriole cohesioncentrioleparasitic infectionocular hypotensiondiabetes mellitusosteitis deformans
✦AI Summary

CCDC102B (coiled-coil domain containing 102B) is a centrosome linker protein that plays a crucial role in maintaining centrosome cohesion during interphase 1. The protein forms fibers at the proximal ends of centrioles and is recruited to the centrosome by C-Nap1, where it interacts with rootletin and LRRC45 to facilitate rootletin filament formation 1. During mitosis, CCDC102B undergoes phosphorylation by Nek2A kinase and dissociates from the centrosome to allow proper centrosome separation 1. Beyond its cellular function, CCDC102B has significant clinical relevance in ophthalmology and forensic science. Genetic variants in CCDC102B confer susceptibility to myopic maculopathy, a sight-threatening complication of high myopia that can lead to blindness 2. The protein is strongly expressed in retinal pigment epithelium and choroids, tissues where pathological changes initially occur in myopic maculopathy 2. Additionally, CCDC102B serves as a valuable biomarker for age estimation in forensic applications, as its DNA methylation patterns correlate strongly with chr18 age across different populations 345. This dual role in centrosome regulation and age-related methylation changes makes CCDC102B both a fundamental cell biology protein and a clinically relevant biomarker.

Sources cited
1
CCDC102B functions as a centrosome linker protein, interacts with rootletin and LRRC45, and undergoes Nek2A-mediated phosphorylation during mitosis
PMID: 30404835
2
CCDC102B variants confer risk for myopic maculopathy and blindness in high myopia, with strong expression in retinal pigment epithelium
PMID: 29725004
3
CCDC102B methylation correlates with age and is useful for forensic age prediction in Chinese Han population
PMID: 32006895
4
CCDC102B is part of age prediction models based on DNA methylation across broad age ranges
PMID: 35777225
5
CCDC102B is among CpG sites used in AI/ML models for forensic age estimation
PMID: 40085291
Disease Associationsⓘ20
parasitic infectionOpen Targets
0.27Weak
ocular hypotensionOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.24Weak
osteitis deformansOpen Targets
0.13Weak
migraine with auraOpen Targets
0.12Weak
liver diseaseOpen Targets
0.10Weak
breast cancerOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
glomerulonephritisOpen Targets
0.06Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.05Suggestive
major salivary gland cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
benign neoplasm of adrenal glandOpen Targets
0.05Suggestive
ovarian dysfunctionOpen Targets
0.05Suggestive
memory impairmentOpen Targets
0.04Suggestive
postinflammatory pulmonary fibrosisOpen Targets
0.04Suggestive
inborn disorder of amino acid metabolismOpen Targets
0.04Suggestive
joint diseaseOpen Targets
0.04Suggestive
multinodular goiterOpen Targets
0.04Suggestive
ventricular fibrillationOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CNTLNShared pathway100%CEP68Shared pathway50%RTTNShared pathway33%CEP44Shared pathway33%CEP135Shared pathway25%NINShared pathway25%
Tissue Expression6 tissues
Lung
100%
Heart
70%
Brain
36%
Bone Marrow
18%
Ovary
13%
Liver
12%
Gene Interaction Network
Click a node to explore
CCDC102BCNTLNCEP68RTTNCEP44CEP135NIN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q68D86
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.58LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.28 [1.04–1.58]
RankingsWhere CCDC102B stands among ~20K protein-coding genes
  • #13,380of 20,598
    Most Researched23
  • #15,598of 17,882
    Most Constrained (LOEUF)1.58
Genes detectedCCDC102B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A large-scale screening and functional sorting of tumour microenvironment prognostic genes for breast cancer patients.
PMID: 36936167
Front Endocrinol (Lausanne) · 2023
1.00
2
CCDC102B functions in centrosome linker assembly and centrosome cohesion.
PMID: 30404835
J Cell Sci · 2018
0.90
3
A common epigenetic clock from childhood to old age.
PMID: 35777225
Forensic Sci Int Genet · 2022
0.80
4
CCDC102B confers risk of low vision and blindness in high myopia.
PMID: 29725004
Nat Commun · 2018
0.70
5
Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients.
PMID: 32730261
PLoS One · 2020
0.60