CCDC85C
Coiled-Coil Domain Containing 85C
Gene Information Card
| Symbol | CCDC85C |
|---|---|
| Full Name | Coiled-Coil Domain Containing 85C |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 64793 ncbi.nlm.nih.gov/gene/64793 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9BQI9 |
| OMIM ID | 614876 |
| HGNC ID | 26712 |
| Aliases | DIPA, FLJ11273, HSD-40 |
Description
CCDC85C (coiled-coil domain containing 85C) is a protein-coding gene located on chromosome 14q11.2. It encodes a protein that contains a coiled-coil domain and is involved in transcriptional regulation, potentially acting as a repressor. The gene is also known as DIPA (delta-interacting protein A) and has been implicated in cellular differentiation and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression may promote tumor growth; potential oncogenic role | COSMIC; PMID: 25691885 |
| Breast cancer | Altered expression linked to poor prognosis; possible role in metastasis | COSMIC; PMID: 28431213 |
| Colorectal cancer | Upregulation observed in tumor tissues; may influence cell proliferation | COSMIC; PMID: 29533785 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 7.1 | Low |
| Lung | 6.4 | Low |
| Kidney | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HT-29 | 8.5 | Colorectal adenocarcinoma cell line |
| A549 | 7.3 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Pro125Leu) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.521A>G (p.Asn174Ser) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function; may affect translation initiation |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) are predicted to abolish protein expression.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects currently.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
| • regulation of transcription, DNA-templated (GO:0006355) | • identical protein binding (GO:0042802) |
Pathways
• Not assigned to any canonical pathway in KEGG or Reactome
Protein Summary
The CCDC85C protein (UniProt Q9BQI9) is 244 amino acids long and contains a coiled-coil domain. It localizes to the nucleus and is thought to function as a transcriptional repressor. The protein may interact with delta-catenin and other partners to regulate gene expression during development and in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC85C Knockout HEK293 Cell Line | EDJ-KQ8910 | Human | 317762 | Details Get a Quote |
| CCDC85C Knockout A-549 Cell Line | EDJ-KQ35252 | Human | 317762 | Details Get a Quote |
| CCDC85C Knockout HCT 116 Cell Line | EDJ-KQ35253 | Human | 317762 | Details Get a Quote |
| CCDC85C Knockout HeLa Cell Line | EDJ-KQ35254 | Human | 317762 | Details Get a Quote |
