CCDC70: Coiled-Coil Domain Containing 70
A gene encoding a coiled-coil domain-containing protein with potential roles in cellular signaling and cancer.
Gene Information Card
| Symbol | CCDC70 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 70 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 83446 ncbi.nlm.nih.gov/gene/83446 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 618278 |
| HGNC ID | 26519 |
| Aliases | FLJ22662, MGC13170 |
Description
CCDC70 (Coiled-Coil Domain Containing 70) is a protein-coding gene located on chromosome 13q14.11. The encoded protein contains a coiled-coil domain, which is often involved in protein-protein interactions and structural organization. CCDC70 has been implicated in various cellular processes, including signal transduction and cell cycle regulation. Emerging evidence suggests its dysregulation may contribute to cancer progression, particularly in breast and lung cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | CCDC70 overexpression may promote cell proliferation and invasion through activation of the Wnt/β-catenin pathway. | PMID: 31289472 |
| Lung Adenocarcinoma | CCDC70 upregulation correlates with poor prognosis and may enhance tumor growth via PI3K/Akt signaling. | PMID: 32467234 |
| Hepatocellular Carcinoma | CCDC70 knockdown reduces cell migration and invasion, suggesting a role in metastasis. | PMID: 33020218 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 4.7 | Not detected |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 14.8 | High expression |
| MCF7 (Breast) | 9.2 | Moderate expression |
| HepG2 (Liver) | 7.5 | Low expression |
| HEK293 (Embryonic kidney) | 3.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.1% | Unknown functional impact |
| c.412C>T (p.Pro138Ser) | Missense | <0.1% | Predicted benign |
| c.523_524insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insA) are predicted to truncate the protein, leading to loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • coiled-coil domain (GO:0005634) |
Pathways
• Wnt signaling pathway
• PI3K-Akt signaling pathway
Protein Summary
The CCDC70 protein (UniProt Q6ZP29) is 342 amino acids long and contains a coiled-coil domain (residues 150-200). It is predicted to localize to the cytoplasm and nucleus. The coiled-coil motif facilitates dimerization and interaction with other proteins, potentially modulating signaling cascades such as Wnt/β-catenin and PI3K/Akt. CCDC70 is expressed at low to moderate levels in normal tissues but is upregulated in several cancers, where it may promote tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC70 Knockout HEK293 Cell Line | EDJ-KQ9842 | Human | 83446 | Details Get a Quote |
| CCDC70 Knockout HeLa Cell Line | EDJ-KQ57437 | Human | 83446 | Details Get a Quote |
| CCDC70 Knockout A-549 Cell Line | EDJ-KQ65941 | Human | 83446 | Details Get a Quote |
| CCDC70 Knockout HCT 116 Cell Line | EDJ-KQ74366 | Human | 83446 | Details Get a Quote |
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