CCDC69: Coiled-Coil Domain Containing 69
A centrosomal protein involved in cell division and potential tumor suppression.
Gene Information Card
| Symbol | CCDC69 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 69 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.1 |
| NCBI Gene ID | 26112 ncbi.nlm.nih.gov/gene/26112 |
| Ensembl ID | ENSG00000113558 |
| UniProt ID | Q9H2X3 |
| OMIM ID | 617443 |
| HGNC ID | 26522 |
| Aliases | FLJ11292, MGC138290 |
Description
CCDC69 encodes a coiled-coil domain-containing protein that localizes to the centrosome and is involved in mitotic spindle organization and cell cycle progression. It may function as a tumor suppressor by regulating centrosome duplication and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential tumor suppressor; loss of expression associated with poor prognosis | PMID: 25620006 |
| Hepatocellular carcinoma | Downregulated; may inhibit cell proliferation | PMID: 30351357 |
| Colorectal cancer | Reduced expression linked to metastasis | PMID: 28723891 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Bone marrow | 6.5 | Medium |
| Lymph node | 5.1 | Low |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.8 | Embryonic kidney |
| HeLa | 6.1 | Cervical cancer |
| MCF7 | 4.5 | Breast cancer |
| HepG2 | 3.9 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% | Truncation; likely loss of function |
| c.742G>A (p.Gly248Arg) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations predicted to cause loss of centrosomal function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • cell cycle (GO:0007049) |
| • cell division (GO:0051301) | • protein binding (GO:0005515) |
Pathways
• Cell Cycle (Reactome: R-HSA-1640170)
• Centrosome maturation (Reactome: R-HSA-380259)
Protein Summary
CCDC69 is a 548-amino acid protein containing coiled-coil domains that mediate homodimerization and centrosomal localization. It interacts with gamma-tubulin and is essential for proper mitotic spindle assembly. Loss of CCDC69 leads to centrosome amplification and aneuploidy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC69 Knockout HEK293 Cell Line | EDJ-KQ8416 | Human | 26112 | Details Get a Quote |
| CCDC69 Knockout HeLa Cell Line | EDJ-KQ33168 | Human | 26112 | 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 |
Displaying Records 1 To 4 Of 4 Records
