HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CCDC30
coiled-coil domain containing 30
Chromosome 1 · 1p34.2
NCBI Gene: 728621Ensembl: ENSG00000186409.19HGNC: HGNC:26103UniProt: A0A590UJ28
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
coronary artery diseasedilated cardiomyopathyHeadachenephrolithiasis
✦AI Summary

CCDC30 (coiled-coil domain containing 30) is a gene located on chromosome 1 that encodes a protein containing a coiled-coil domain. While its primary biological function remains incompletely characterized, CCDC30 has emerged as a significant player in cancer biology, particularly through gene fusion events. The most well-established role of CCDC30 is as a fusion partner with the ROS1 receptor tyrosine kinase in thyroid carcinomas. In the CCDC30-ROS1 fusion, the coiled-coil domain of CCDC30 is fused to the N-terminal kinase domain of ROS1, with CCDC30 postulated to drive constitutive activation of ROS1 kinase 1. This fusion has been identified in papillary thyroid carcinomas with aggressive clinical presentations, including extensive lymphovascular invasion, extrathyroidal extension, and cervical lymph node metastasis 2. In pediatric papillary thyroid carcinoma, CCDC30-ROS1 represents a rare but recurrent fusion that induces MAPK pathway activation and promotes cell proliferation; these effects are suppressible by ROS1-targeted tyrosine kinase inhibitors 3. Additionally, CCDC30 polymorphisms have been associated with asthma exacerbations in smoking asthmatics, suggesting potential roles in inflammatory airway disease 4. These findings indicate that CCDC30 participates in both oncogenic transformation and immune-inflammatory pathways, making it a candidate for therapeutic intervention in ROS1-rearranged thyroid malignancies.

Sources cited
1
CCDC30 is a fusion partner with ROS1 in papillary thyroid carcinoma, with the coiled-coil domain of CCDC30 fused to the kinase domain of ROS1 driving constitutive ROS1 activation
PMID: 27089969
2
CCDC30-ROS1 fusion occurs in kinase fusion-positive thyroid carcinomas associated with lymphovascular invasion, extrathyroidal extension, and cervical lymph node metastasis
PMID: 32737449
3
CCDC30-ROS1 fusion in pediatric papillary thyroid carcinoma induces MAPK pathway activation and cell proliferation that can be suppressed by ROS1 tyrosine kinase inhibitors
PMID: 39982551
4
CCDC30 polymorphisms are associated with asthma exacerbations in smoking asthmatics
PMID: 35606283
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.28Weak
dilated cardiomyopathyOpen Targets
0.27Weak
HeadacheOpen Targets
0.16Weak
nephrolithiasisOpen Targets
0.16Weak
headache disorderOpen Targets
0.15Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
systemic lupus erythematosusOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
migraine disorderOpen Targets
0.01Suggestive
leukemiaOpen Targets
0.00Suggestive
liver and intrahepatic bile duct neoplasmOpen Targets
0.00Suggestive
liver cancerOpen Targets
0.00Suggestive
Neoplasm of the liverOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
asthmaOpen Targets
0.00Suggestive
thyroid cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COASYProtein interaction91%PANK4Protein interaction86%
Tissue Expression6 tissues
Ovary
100%
Brain
94%
Bone Marrow
58%
Lung
50%
Liver
38%
Heart
28%
Gene Interaction Network
Click a node to explore
CCDC30COASYPANK4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5VVM6
View on AlphaFold ↗
RankingsWhere CCDC30 stands among ~20K protein-coding genes
  • #16,697of 20,598
    Most Researched11
Genes detectedCCDC30
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
A genome-wide association study on frequent exacerbation of asthma depending on smoking status.
PMID: 35606283
Respir Med · 2022
1.00
2
ROS1 Rearrangement in Thyroid Cancer.
PMID: 27089969
Thyroid · 2016
0.83
3
Clinicopathologic features of kinase fusion-related thyroid carcinomas: an integrative analysis with molecular characterization.
PMID: 32737449
Mod Pathol · 2020
0.67
4
Cloning and characterization of a novel human prefoldin and SPEC domain protein gene (PFD6L) from the fetal brain.
PMID: 16710767
Biochem Genet · 2006
0.50
5
USP38, FREM3, SDC1, DDC, and LOC727982 Gene Polymorphisms and Differential Susceptibility to Severe Malaria in Tanzania.
PMID: 25805752
J Infect Dis · 2015
0.33