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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CCDC6
coiled-coil domain containing 6
Chromosome 10 · 10q21.2
NCBI Gene: 8030Ensembl: ENSG00000108091.12HGNC: HGNC:18782UniProt: Q05CP8
119PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolidentical protein bindingstructural constituent of cytoskeletonnon-small cell lung carcinomamedullary thyroid gland carcinomaneurodegenerative diseaseneoplasm
✦AI Summary

CCDC6 (coiled-coil domain containing 6) is a tumor suppressor protein involved in critical cellular processes including DNA damage response and apoptosis 1. The protein functions as a structural component in the cytosol and participates in protein-protein interactions 1. CCDC6 acts as an ATM substrate responsive to genotoxic stress, sustaining DNA damage checkpoints and promoting apoptotic responses 2. When CCDC6 function is impaired through chr10 rearrangements or mutations, tumor progression is enhanced by impairing apoptotic responses, contributing to radio- and chemoresistance 2. CCDC6 forms oncogenic fusion genes with various proto-oncogenes (RET, and others) across multiple cancer types including thyroid and melanoma 3. Recent evidence indicates CCDC6 undergoes liquid-liquid phase separation and can regulate phase separation of fusion proteins 1. Additionally, CCDC6 collaborates with FBXO42 to control USP28-mediated p53 stabilization, influencing wild-type and mutant p53 levels in cancer 4. Beyond cancer, CCDC6 regulates cell fate decisions in liver and pancreatic tissues 5, and genetic variants near CCDC6 are associated with Alzheimer's disease risk 6. CCDC6 mutations may serve as predictive biomarkers for treatment resistance, potentially identifying patients who could benefit from PARP inhibitor therapy 2.

Sources cited
1
CCDC6 is a tumor suppressor gene encoding a coiled-coil domain protein involved in DNA damage response and apoptosis; undergoes liquid-liquid phase separation
PMID: 41578974
2
CCDC6 sustains DNA damage checkpoints; inactivation impairs apoptotic response and confers chemoresistance; mutations may predict PARP inhibitor sensitivity
PMID: 29044514
3
CCDC6::RET fusion detected in melanoma; gene fusions identified in triple wild-type melanomas
PMID: 35871080
4
CCDC6 works with FBXO42 to control USP28-mediated p53 stabilization in cancer
PMID: 38580884
5
CCDC6 regulates liver and pancreatic cell fate decisions
PMID: 40011559
6
CCDC6 genetic variants associated with Alzheimer's disease risk from genome-wide meta-analysis
PMID: 33589840
Disease Associationsⓘ20
non-small cell lung carcinomaOpen Targets
0.67Moderate
medullary thyroid gland carcinomaOpen Targets
0.62Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
neoplasmOpen Targets
0.50Moderate
papillary thyroid carcinomaOpen Targets
0.47Moderate
thyroid cancerOpen Targets
0.47Moderate
thyroid neoplasmOpen Targets
0.46Moderate
colon carcinomaOpen Targets
0.39Weak
malignant colon neoplasmOpen Targets
0.39Weak
Hashimoto's thyroiditisOpen Targets
0.38Weak
breast cancerOpen Targets
0.37Weak
lung adenocarcinomaOpen Targets
0.37Weak
thyroiditisOpen Targets
0.37Weak
thyroid gland oncocytic adenomaOpen Targets
0.37Weak
follicular thyroid carcinomaOpen Targets
0.37Weak
Thyroid Gland Undifferentiated (Anaplastic) CarcinomaOpen Targets
0.37Weak
Follicular Variant Thyroid Gland Papillary CarcinomaOpen Targets
0.37Weak
pancreatic neoplasmOpen Targets
0.37Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.37Weak
squamous cell lung carcinomaOpen Targets
0.37Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
PRALSETINIBApproved
Coiled-coil domain-containing protein 6/Tyrosine-protein kinase receptor RET inhibitor
medullary thyroid gland carcinoma
SELPERCATINIBApproved
Coiled-coil domain-containing protein 6/Tyrosine-protein kinase receptor RET inhibitor
medullary thyroid gland carcinoma
Related Genes
CFAP410Shared pathway100%ACTL10Shared pathway100%ACTRT2Shared pathway100%ACTRT3Shared pathway100%SH3BGRL3Shared pathway100%NAA25Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
92%
Lung
63%
Heart
51%
Ovary
49%
Liver
37%
Gene Interaction Network
Click a node to explore
CCDC6CFAP410ACTL10ACTRT2ACTRT3SH3BGRL3NAA25
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q05CP8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.89Intermediate
Observed/Expected LoF0.33 [0.20–0.56]
RankingsWhere CCDC6 stands among ~20K protein-coding genes
  • #3,958of 20,598
    Most Researched119 · top quartile
  • #587of 1,025
    FDA-Approved Drug Targets2
  • #3,659of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedCCDC6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.
PMID: 33589840
Nat Genet · 2021
1.00
2
CCDC6: the identity of a protein known to be partner in fusion.
PMID: 29044514
Int J Cancer · 2018
0.90
3
Decoding heterogeneous single-cell perturbation responses.
PMID: 40011559
Nat Cell Biol · 2025
0.80
4
Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability.
PMID: 38580884
Mol Syst Biol · 2024
0.70
5
CCDC6, a gene product in fusion with different protoncogenes, as a potential chemotherapeutic target.
PMID: 30909182
Cancer Biomark · 2019
0.60