CCDC6 Gene

Name	coiled-coil domain containing 6
Description	This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The coiled‐coil domain containing 6 (CCDC6) gene was originally identified because of its frequent rearrangement with the RET proto‐oncogene in papillary thyroid carcinomas and lung adenocarcinomas."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In normal cells, the CCDC6 protein acts as a tumor suppressor—it is an established substrate of ATM and is intimately involved in the DNA damage response. By engaging in cell cycle–dependent post‐translational modifications such as phosphorylation, ubiquitination, and de‑ubiquitination (e.g., via USP7), CCDC6 levels are tightly regulated to ensure proper repair of DNA lesions and to maintain genomic stability."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Functional studies have shown that CCDC6 interacts with transcription factors like CREB1, recruiting histone deacetylase and protein phosphatase complexes to repress CREB1‐mediated transcription; this activity is critical for regulating gene expression patterns that control cell survival and proliferation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}, {"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Furthermore, loss or inactivation of CCDC6—as occurs when it is fused to RET (forming the CCDC6‑RET oncogene) or when its expression is down‐regulated—leads to defective homologous recombination repair, impaired apoptotic responses, and aberrant cell cycle checkpoint control. These alterations contribute not only to tumorigenesis but also affect therapeutic responses, as reduced CCDC6 levels have been associated with resistance to DNA‑damaging agents like cisplatin and suggest potential sensitivity to inhibitors targeting DNA repair pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}, {"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In summary, CCDC6 plays a dual role in cancer biology both as a critical mediator of the cellular response to genotoxic stress and, when altered, as a partner in oncogenic fusion events, thereby representing a promising biomarker and target for personalized therapeutic strategies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}, {"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Kengo Takeuchi, Manabu Soda, Yuki Togashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RET, ROS1 and ALK fusions in lung cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm.2658"}], "href": "https://doi.org/10.1038/nm.2658"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22327623"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22327623"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Krystian Jazdzewski, Elizabeth L Murray, Kaarle Franssila, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0802682105"}], "href": "https://doi.org/10.1073/pnas.0802682105"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18474871"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18474871"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Francesco Morra, Chiara Luise, Francesco Merolla, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FBXW7 and USP7 regulate CCDC6 turnover during the cell cycle and affect cancer drugs susceptibility in NSCLC."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.3708"}], "href": "https://doi.org/10.18632/oncotarget.3708"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25885523"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25885523"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Francesco Merolla, Chiara Luise, Mark T Muller, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of CCDC6, the first identified RET partner gene, affects pH2AX S139 levels and accelerates mitotic entry upon DNA damage."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0036177"}], "href": "https://doi.org/10.1371/journal.pone.0036177"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22655027"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22655027"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Douglas S Richardson, Taranjit S Gujral, Susan Peng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcript level modulates the inherent oncogenicity of RET/PTC oncoproteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-08-4425"}], "href": "https://doi.org/10.1158/0008-5472.CAN-08-4425"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19487296"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19487296"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "K Tsuta, T Kohno, A Yoshida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RET-rearranged non-small-cell lung carcinoma: a clinicopathological and molecular analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Cancer (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/bjc.2014.36"}], "href": "https://doi.org/10.1038/bjc.2014.36"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24504365"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24504365"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Rui Wang, Haichuan Hu, Yunjian Pan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RET fusions define a unique molecular and clinicopathologic subtype of non-small-cell lung cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Oncol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1200/JCO.2012.44.1477"}], "href": "https://doi.org/10.1200/JCO.2012.44.1477"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23150706"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23150706"}]}]}]}
Synonyms	TST1, TPC, D10S170, H4
Proteins	CCDC6_HUMAN
NCBI Gene ID	8030
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CCDC6 has 7,683 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 126 datasets.

Click the + buttons to view associations for CCDC6 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CCDC6 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CCDC6 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CCDC6 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CCDC6 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CCDC6 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CCDC6 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CCDC6 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CCDC6 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CCDC6 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CCDC6 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CCDC6 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CCDC6 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with CCDC6 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CCDC6 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CCDC6 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CCDC6 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CCDC6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CCDC6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing CCDC6 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CCDC6 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CCDC6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing CCDC6 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CCDC6 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CCDC6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CCDC6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CCDC6 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CCDC6 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CCDC6 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CCDC6 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CCDC6 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CCDC6 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CCDC6 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CCDC6 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CCDC6 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CCDC6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CCDC6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CCDC6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CCDC6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CCDC6 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CCDC6 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CCDC6 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.