CCDC57: Coiled-Coil Domain Containing 57
A gene encoding a protein with coiled-coil domains, implicated in cellular organization and potential roles in ciliogenesis and cancer.
Gene Information Card
| Symbol | CCDC57 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 57 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 284001 ncbi.nlm.nih.gov/gene/284001 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q8IYX0 |
| OMIM ID | 619838 |
| HGNC ID | 26682 |
| Aliases | FLJ25333, MGC16384 |
Description
CCDC57 (Coiled-Coil Domain Containing 57) is a protein-coding gene located on chromosome 17q25.3. The encoded protein contains coiled-coil domains and is involved in cellular processes such as ciliogenesis and microtubule organization. Expression data suggest roles in various tissues, and alterations have been reported in cancer contexts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential role in cell cycle and cilia function; mutations may contribute to tumorigenesis | COSMIC: somatic mutations identified in various cancer types |
| Primary ciliary dyskinesia (candidate) | CCDC57 may affect cilia assembly or function | Inferred from protein function and homology; no direct ClinVar entry |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.3 | Embryonic kidney cells |
| HeLa | 7.1 | Cervical cancer cells |
| A549 | 5.8 | Lung carcinoma cells |
| K562 | 4.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.02% (COSMIC) | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | 0.01% (COSMIC) | Loss of function |
| c.890A>G (p.Gln297Arg) | Missense | 0.005% (COSMIC) | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to premature stop codons, likely causing loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • centrosome (GO:0005813) | • cell projection organization (GO:0030030) |
| • cilium assembly (GO:0060271) |
Pathways
• Ciliogenesis (inferred)
• Microtubule cytoskeleton organization
Protein Summary
The CCDC57 protein (UniProt Q8IYX0) is 1,024 amino acids long and contains coiled-coil domains. It localizes to the cytoplasm and centrosome, and is involved in cilia formation and microtubule dynamics. Expression is highest in testis, with lower levels in brain and lung. Somatic mutations have been identified in cancer, suggesting a potential role in tumor suppression or cilia-related pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC57 Knockout HEK293 Cell Line | EDJ-KQ12757 | Human | 284001 | Details Get a Quote |
| CCDC57 Knockout A-549 Cell Line | EDJ-KQ41873 | Human | 284001 | Details Get a Quote |
| CCDC57 Knockout HCT 116 Cell Line | EDJ-KQ41874 | Human | 284001 | Details Get a Quote |
| CCDC57 Knockout HeLa Cell Line | EDJ-KQ41875 | Human | 284001 | Details Get a Quote |
