CCDC6 Gene: Structure, Function, and Role in Cancer
A comprehensive guide to the CCDC6 gene, its protein product, associated diseases, and clinical significance.
Gene Information Card
| Symbol | CCDC6 |
|---|---|
| Full Name | Coiled-coil domain containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.2 |
| NCBI Gene ID | 8030 ncbi.nlm.nih.gov/gene/8030 |
| Ensembl ID | ENSG00000108091 |
| UniProt ID | Q16204 |
| OMIM ID | 601985 |
| HGNC ID | 1876 |
| Aliases | H4, D10S170, PTC, TPC |
Description
The CCDC6 gene encodes a protein with a coiled-coil domain, involved in DNA damage response, apoptosis, and transcriptional regulation. It is frequently rearranged in papillary thyroid carcinoma, forming fusion genes with RET or other partners. The protein is localized in the nucleus and cytoplasm, and its dysfunction contributes to tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Papillary thyroid carcinoma | Chromosomal rearrangements (e.g., CCDC6-RET) create fusion proteins with constitutive kinase activity, driving oncogenesis. | COSMIC, ClinVar |
| Lung adenocarcinoma | CCDC6 fusions with RET have been identified in a subset of lung cancers, leading to aberrant signaling. | COSMIC |
| Colorectal cancer | CCDC6 expression loss may impair DNA repair, promoting genomic instability. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 6.7 | Low |
| Breast | 5.2 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical carcinoma |
| A549 | 9.8 | Lung carcinoma |
| MCF7 | 7.5 | Breast carcinoma |
| HCT116 | 6.3 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| CCDC6-RET fusion | Chromosomal rearrangement | Frequent in PTC (up to 20%) | Constitutive activation of RET kinase, promoting cell proliferation |
| Missense mutations | Point mutation | Rare | May affect protein stability or interaction with partners |
| Deletions | Copy number loss | Occasional | Loss of function, impaired DNA repair |
Mutation functional classification
Loss of Function (LOF)
Loss of CCDC6 function impairs DNA damage response and apoptosis, contributing to genomic instability and cancer progression.
Gain of Function (GOF)
Fusion proteins (e.g., CCDC6-RET) acquire constitutive kinase activity, driving oncogenic signaling.
Dominant Negative (DN)
Some CCDC6 mutants may interfere with wild-type protein function, disrupting normal cellular processes.
View complete mutation data：
Gene Ontology (GO)
| • DNA damage response | • Apoptotic process |
| • Protein binding | • Nucleus |
| • Cytoplasm | • Regulation of transcription |
Pathways
• DNA damage response
• Apoptosis
• RET signaling (in fusion context)
Protein Summary
The CCDC6 protein is a 65 kDa nuclear and cytoplasmic protein containing a coiled-coil domain. It participates in DNA damage repair, apoptosis, and transcriptional regulation. It interacts with proteins such as ATM, TP53, and CREBBP. Chromosomal rearrangements involving CCDC6 are common in thyroid cancer, leading to fusion proteins with oncogenic properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC6 Knockout HEK293 Cell Line | EDJ-KQ3074 | Human | 8030 | Details Get a Quote |
| CCDC69 Knockout HEK293 Cell Line | EDJ-KQ8416 | Human | 26112 | Details Get a Quote |
| CCDC68 Knockout HEK293 Cell Line | EDJ-KQ9524 | Human | 80323 | Details Get a Quote |
| CCDC62 Knockout HEK293 Cell Line | EDJ-KQ10155 | Human | 84660 | Details Get a Quote |
| CCDC60 Knockout HEK293 Cell Line | EDJ-KQ12016 | Human | 160777 | Details Get a Quote |
| CCDC61 Knockout HEK293 Cell Line | EDJ-KQ12758 | Human | 729440 | Details Get a Quote |
| CCDC63 Knockout HEK293 Cell Line | EDJ-KQ12759 | Human | 160762 | Details Get a Quote |
| CCDC66 Knockout HEK293 Cell Line | EDJ-KQ12760 | Human | 285331 | Details Get a Quote |
| CCDC6 Knockout HCT 116 Cell Line | EDJ-KQ22981 | Human | 8030 | Details Get a Quote |
| CCDC69 Knockout HeLa Cell Line | EDJ-KQ33168 | Human | 26112 | Details Get a Quote |
| CCDC6 Knockout A-549 Cell Line | EDJ-KQ24357 | Human | 8030 | Details Get a Quote |
| CCDC6 Knockout HeLa Cell Line | EDJ-KQ24359 | Human | 8030 | Details Get a Quote |
| CCDC69 Knockout A-549 Cell Line | EDJ-KQ34500 | Human | 26112 | Details Get a Quote |
| CCDC69 Knockout HCT 116 Cell Line | EDJ-KQ34501 | Human | 26112 | Details Get a Quote |
| CCDC68 Knockout A-549 Cell Line | EDJ-KQ36289 | Human | 80323 | Details Get a Quote |
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