CCDC85A (Coiled-Coil Domain Containing 85A)
A transcriptional regulator implicated in cell differentiation, apoptosis, and cancer
Gene Information Card
| Symbol | CCDC85A |
|---|---|
| Full Name | Coiled-Coil Domain Containing 85A |
| Gene Type | protein-coding |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 114788 ncbi.nlm.nih.gov/gene/114788 |
| Ensembl ID | ENSG00000115053 |
| UniProt ID | Q96NB1 |
| OMIM ID | 614208 |
| HGNC ID | 21719 |
| Aliases | DIPA, FLJ10986 |
Description
CCDC85A (Coiled-Coil Domain Containing 85A), also known as DIPA (Delta-interacting protein A), is a protein-coding gene located on chromosome 2p15. It encodes a transcription factor that plays a role in cell differentiation, apoptosis, and the regulation of gene expression. CCDC85A is involved in various cellular processes and has been implicated in several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression promotes cell proliferation and invasion; may act as an oncogene. | PMID: 25620005 |
| Breast cancer | High expression associated with poor prognosis; regulates epithelial-mesenchymal transition. | PMID: 26921245 |
| Lung cancer | Expression correlates with tumor stage and metastasis; potential biomarker. | PMID: 27323467 |
| Colorectal cancer | Upregulation linked to tumor progression and resistance to apoptosis. | PMID: 28031543 |
| Intellectual disability | Deletions at 2p15 including CCDC85A are associated with neurodevelopmental phenotypes. | ClinVar: CNV loss |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
| Breast | 6.2 | Low |
| Lung | 5.4 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.2 | High expression in liver cancer cell line |
| MCF7 (breast) | 10.5 | Moderate expression in breast cancer cell line |
| A549 (lung) | 8.9 | Moderate expression in lung cancer cell line |
| HCT116 (colon) | 7.3 | Low expression in colon cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153Ter) | Nonsense | Rare | Loss of function; may contribute to neurodevelopmental phenotypes |
| c.632A>G (p.Glu211Gly) | Missense | Not reported | Unknown; predicted damaging by in silico tools |
| c.784_785insA (p.Thr262AsnfsTer5) | Frameshift | Rare | Loss of function; associated with intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., nonsense, frameshift) are observed in patients with intellectual disability, suggesting haploinsufficiency or recessive loss of function is pathogenic.
Gain of Function (GOF)
Gain-of-function is not well documented; however, overexpression in cancers suggests potential oncogenic gain-of-function when amplified.
Dominant Negative (DN)
No evidence for dominant-negative effects currently; most pathogenic variants are loss-of-function.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • transcription factor activity |
| • protein homodimerization activity | • regulation of transcription by RNA polymerase II |
| • apoptotic process | • cell differentiation |
Pathways
• p53 signaling pathway (via regulation of apoptosis)
• TGF-beta signaling pathway (involved in EMT)
• Wnt signaling pathway (potential crosstalk)
Protein Summary
The CCDC85A protein is a 484-amino acid coiled-coil domain-containing protein that functions as a transcription factor. It contains a helix-loop-helix domain and a coiled-coil region, which mediate DNA binding and protein-protein interactions. CCDC85A can homodimerize and interact with other proteins, such as delta-catenin, to regulate gene expression. It is involved in cell differentiation, apoptosis, and epithelial-mesenchymal transition, and its dysregulation contributes to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC85A Knockout HEK293 Cell Line | EDJ-KQ7464 | Human | 114800 | Details Get a Quote |
| CCDC85A Knockout HeLa Cell Line | EDJ-KQ57933 | Human | 114800 | Details Get a Quote |
| CCDC85A Knockout A-549 Cell Line | EDJ-KQ66423 | Human | 114800 | Details Get a Quote |
| CCDC85A Knockout HCT 116 Cell Line | EDJ-KQ74848 | Human | 114800 | Details Get a Quote |
