CCDC80 (Coiled-Coil Domain Containing 80)
A secreted extracellular matrix protein implicated in adipogenesis, tumor suppression, and cell adhesion
Gene Information Card
| Symbol | CCDC80 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 80 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.33 |
| NCBI Gene ID | 151887 ncbi.nlm.nih.gov/gene/151887 |
| Ensembl ID | ENSG00000112419 |
| UniProt ID | Q76M96 |
| OMIM ID | 611827 |
| HGNC ID | 24482 |
| Aliases | SSG1, DRO1, URB, NY-REN-41 |
Description
CCDC80 encodes a secreted protein containing coiled-coil domains, involved in extracellular matrix organization, cell adhesion, and adipocyte differentiation. It functions as a potential tumor suppressor in several cancers and is downregulated in malignant tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Downregulation of CCDC80 promotes tumor growth and metastasis; acts as a tumor suppressor via ECM remodeling | PMID: 23468904 |
| Breast Cancer | Reduced expression correlates with poor prognosis; re-expression inhibits cell proliferation and invasion | PMID: 20628086 |
| Obesity / Adipogenesis | CCDC80 is induced during adipocyte differentiation and regulates lipid accumulation | PMID: 15616553 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.1 | Low |
| Heart | 4.7 | Low |
| Lung | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 5.4 | Hepatocellular carcinoma cell line |
| MCF7 | 2.1 | Breast cancer cell line |
| HT-29 | 1.8 | Colorectal adenocarcinoma cell line |
| 3T3-L1 | 15.2 | Mouse preadipocyte line; high expression during differentiation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375*) | Nonsense | <0.1% | Truncation; loss of function in colorectal cancer samples |
| c.456_457insA (p.Glu153Argfs*12) | Frameshift | <0.1% | Predicted loss of function; observed in gastric cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CCDC80 lead to truncated or absent protein, consistent with tumor suppressor activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • protein binding |
| • cell adhesion | • negative regulation of cell proliferation |
| • extracellular matrix organization |
Pathways
• ECM-receptor interaction
• Focal adhesion
• Adipogenesis
Protein Summary
CCDC80 is a 746-amino-acid secreted protein with multiple coiled-coil domains. It localizes to the extracellular matrix and modulates cell-matrix interactions. The protein is highly expressed in adipose tissue and is induced during adipogenesis. It acts as a tumor suppressor by inhibiting cell proliferation and migration in various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC80 Knockout HEK293 Cell Line | EDJ-KQ12022 | Human | 151887 | Details Get a Quote |
| CCDC80 Knockout A-549 Cell Line | EDJ-KQ41889 | Human | 151887 | Details Get a Quote |
| CCDC80 Knockout HeLa Cell Line | EDJ-KQ41890 | Human | 151887 | Details Get a Quote |
| CCDC80 Knockout Hep-G2 Cell Line | EDJ-KZ133 | Human | 151887 | Details Get a Quote |
| CCDC80 Knockout HCT 116 Cell Line | EDJ-KQ75583 | Human | 151887 | Details Get a Quote |
