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GeneE
6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CCDC14
coiled-coil domain containing 14
Chromosome 3 · 3q21.1
NCBI Gene: 64770Ensembl: ENSG00000175455.16HGNC: HGNC:25766UniProt: J3QT39
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsubstantia nigra developmentprotein localization to centrosomecentriolar satelliteneurodegenerative diseasepoisoningintelligenceVitiligo
✦AI Summary

CCDC14 (coiled-coil domain containing 14) is a negative regulator of centriole duplication that functions at centriolar satellites, which are granular structures surrounding the centrosome. CCDC14 localizes to centriolar satellites where it interacts with CEP63, a key centriole duplication protein 1. As a centriolar satellite protein, CCDC14 negatively regulates both centriole duplication and CEP63 centrosomal localization, distinguishing it from other satellite proteins that promote these processes 12. Unlike most microcephaly-associated proteins that recruit CDK2 to the centrosome to drive centriole duplication, CCDC14 does not promote CDK2 centrosomal localization, suggesting an alternative regulatory mechanism 2. CCDC14 can be ubiquitinated by the E3 ligase MIB1, though this modification does not lead to its degradation 3. Disease relevance includes potential associations with neurodevelopmental disorders; CCDC14 has been identified as a candidate gene in autism spectrum disorders through transcriptome-wide association studies 4. The gene may also contribute to metabolic traits, as CCDC14 expression is downregulated by metformin in breast cancer cells 5. Further research is needed to fully elucidate CCDC14's clinical significance and its precise molecular mechanism of negative regulation.

Sources cited
1
CCDC14 is a centriolar satellite protein that negatively regulates centriole duplication and CEP63 centrosomal localization
PMID: 24613305
2
CCDC14 interacts with CEP63 at centriolar satellites and does not promote CDK2 centrosomal localization unlike other satellite proteins
PMID: 26297806
3
CCDC14 can be ubiquitinated by MIB1 E3 ligase without being degraded
PMID: 31462741
4
CCDC14 is a candidate gene associated with autism spectrum disorders identified through transcriptome-wide association study
PMID: 30561910
5
CCDC14 mRNA expression is downregulated by metformin treatment in breast cancer cells
PMID: 21655990
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
poisoningOpen Targets
0.33Weak
intelligenceOpen Targets
0.21Weak
VitiligoOpen Targets
0.09Suggestive
MyoclonusOpen Targets
0.06Suggestive
muscular dystrophyOpen Targets
0.05Suggestive
neuromuscular diseaseOpen Targets
0.05Suggestive
mathematical abilityOpen Targets
0.03Suggestive
skin diseaseOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
cardiac arrestOpen Targets
0.03Suggestive
cervical carcinomaOpen Targets
0.03Suggestive
obesityOpen Targets
0.03Suggestive
ArthropathyOpen Targets
0.02Suggestive
smoking initiationOpen Targets
0.02Suggestive
corneal neovascularizationOpen Targets
0.02Suggestive
pituitary gland diseaseOpen Targets
0.02Suggestive
sinusitisOpen Targets
0.02Suggestive
salivary gland cancerOpen Targets
0.01Suggestive
Pick diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CEP295Protein interaction94%CCDC18Protein interaction87%CCDC66Protein interaction83%CEP290Protein interaction83%CEP63Protein interaction82%CEP72Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
34%
Lung
21%
Liver
19%
Brain
10%
Heart
9%
Gene Interaction Network
Click a node to explore
CCDC14CEP295CCDC18CCDC66CEP290CEP63CEP72
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q49A88
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.66–1.08]
RankingsWhere CCDC14 stands among ~20K protein-coding genes
  • #8,781of 20,598
    Most Researched50
  • #10,965of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedCCDC14
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Proximity interactions among centrosome components identify regulators of centriole duplication.
PMID: 24613305
Curr Biol · 2014
1.00
2
Detection of genome-wide copy number variations in two chicken lines divergently selected for abdominal fat content.
PMID: 24962627
BMC Genomics · 2014
0.83
3
Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins.
PMID: 31462741
Sci Rep · 2019
0.67
4
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.
PMID: 26297806
Elife · 2015
0.50
5
Evidence for biological effects of metformin in operable breast cancer: a pre-operative, window-of-opportunity, randomized trial.
PMID: 21655990
Breast Cancer Res Treat · 2011
0.33