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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CCDC180
coiled-coil domain containing 180
Chromosome 9 Β· 9q22.33
NCBI Gene: 100499483Ensembl: ENSG00000197816.16HGNC: HGNC:29303UniProt: A0A6E1Y6F7
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomeplacenta praeviabenign soft tissue neoplasmliver diseasecervical carcinoma
✦AI Summary

CCDC180 (coiled-coil domain containing 180) is a coiled-coil domain protein present in extracellular exosomes with emerging roles in disease pathophysiology. In familial intracranial aneurysm (IA), a rare p.Arg979Trp variant in CCDC180 was identified through genome-wide linkage analysis in a Dutch family with multiple IA cases; however, this variant showed no association with IA status in a large general population cohort of 937 patients and 1046 controls 1. In hepatocellular carcinoma development, CCDC180 was identified as a key gene in microcystin-LR-induced malignant transformation of hepatocytes, with its expression regulated by both DNA methylation and microRNA networks 2. Most notably, CCDC180 functions as a novel immunohistochemical marker for liposarcoma, showing high accuracy in differentiating atypical lipomatous tumors/well-differentiated liposarcoma (ALT/WDL) from benign lipomas 3. Functionally, CCDC180 knockdown inhibits liposarcoma cell proliferation, while CCDC180 expression suppresses cell migration, invasion, and apoptosis resistance in WDL cells, with expression inversely associated with adipogenic differentiation 3. These findings suggest CCDC180 contributes to malignant potential in liposarcoma, though its precise molecular mechanisms require further characterization.

Sources cited
1
CCDC180 p.Arg979Trp variant identified in familial intracranial aneurysm but not associated with IA in general population
PMID: 35228681
2
CCDC180 is a key gene in microcystin-LR-induced hepatocyte malignant transformation with expression regulated by DNA methylation and microRNA
PMID: 29518473
3
CCDC180 is a novel immunohistochemical marker for liposarcoma; its knockdown inhibits proliferation and expression suppresses migration, invasion, and apoptosis resistance
PMID: 30790560
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
placenta praeviaOpen Targets
0.32Weak
benign soft tissue neoplasmOpen Targets
0.28Weak
liver diseaseOpen Targets
0.25Weak
cervical carcinomaOpen Targets
0.19Weak
dyshidrosisOpen Targets
0.13Weak
brain aneurysmOpen Targets
0.12Weak
breast ductal adenocarcinomaOpen Targets
0.11Weak
Female infertility due to fertilization defectOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.09Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.08Suggestive
Rare genetic female infertilityOpen Targets
0.08Suggestive
keratoconus 5Open Targets
0.07Suggestive
ovarian cancerOpen Targets
0.07Suggestive
oocyte maturation defect 14Open Targets
0.07Suggestive
oocyte maturation defect 5Open Targets
0.07Suggestive
Hydatidiform MoleOpen Targets
0.07Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.07Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.07Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.07Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CDK17Protein interaction83%TDRD7Protein interaction83%CFAP92Protein interaction72%
Tissue Expression6 tissues
Ovary
100%
Lung
35%
Bone Marrow
27%
Liver
22%
Brain
21%
Heart
16%
Gene Interaction Network
Click a node to explore
CCDC180CDK17TDRD7CFAP92
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9P1Z9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.62–0.82]
RankingsWhere CCDC180 stands among ~20K protein-coding genes
  • #13,151of 20,598
    Most Researched24
  • #6,966of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedCCDC180
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Genome-wide linkage analysis combined with genome sequencing in large families with intracranial aneurysms.
PMID: 35228681
Eur J Hum Genet Β· 2022
1.00
2
Gene expression network regulated by DNA methylation and microRNA during microcystin-leucine arginine induced malignant transformation in human hepatocyte L02 cells.
PMID: 29518473
Toxicol Lett Β· 2018
0.67
3
Identification of Coiled-Coil Domain-Containing Protein 180 and Leucine-Rich Repeat-Containing Protein 4 as Potential Immunohistochemical Markers for Liposarcoma Based on Proteomic Analysis Using Formalin-Fixed, Paraffin-Embedded Tissue.
PMID: 30790560
Am J Pathol Β· 2019
0.33