CCDC97: Coiled-Coil Domain Containing 97
A gene encoding a coiled-coil domain-containing protein with potential roles in cellular signaling and cancer.
Gene Information Card
| Symbol | CCDC97 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 97 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 90324 ncbi.nlm.nih.gov/gene/90324 |
| Ensembl ID | ENSG00000160191 |
| UniProt ID | Q9BQI5 |
| OMIM ID | 618231 |
| HGNC ID | 26719 |
| Aliases | FLJ11273, MGC138290 |
Description
CCDC97 (Coiled-Coil Domain Containing 97) is a protein-coding gene located on chromosome 19q13.2. The encoded protein contains a coiled-coil domain, which is often involved in protein-protein interactions and structural organization. CCDC97 is expressed in various tissues and has been implicated in cellular signaling pathways. Mutations in CCDC97 have been reported in cancer, suggesting a potential role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Somatic mutations in CCDC97 may alter protein function, contributing to tumor progression. | COSMIC |
| Lung cancer | Recurrent mutations observed in lung adenocarcinoma samples. | COSMIC |
| Colorectal cancer | Missense variants identified in colorectal tumors. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 9.8 | Medium |
| Prostate | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| A549 | 6.5 | Lung cancer cells |
| MCF7 | 5.9 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.1% | Unknown; observed in breast cancer |
| c.412C>T (p.Pro138Ser) | Missense | <0.1% | Unknown; observed in lung cancer |
| c.523A>G (p.Thr175Ala) | Missense | <0.1% | Unknown; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Not assigned to any specific pathway in major databases.
Protein Summary
The CCDC97 protein (UniProt Q9BQI5) is 297 amino acids long and contains a coiled-coil domain. It is localized in the cytoplasm and nucleus, suggesting roles in intracellular signaling and transcriptional regulation. The exact biological function remains largely uncharacterized, but its expression in multiple tissues and mutations in cancer imply a role in cell growth control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC97 Knockout HEK293 Cell Line | EDJ-KQ10584 | Human | 90324 | Details Get a Quote |
| CCDC97 Knockout A-549 Cell Line | EDJ-KQ38047 | Human | 90324 | Details Get a Quote |
| CCDC97 Knockout HCT 116 Cell Line | EDJ-KQ38048 | Human | 90324 | Details Get a Quote |
| CCDC97 Knockout HeLa Cell Line | EDJ-KQ38049 | Human | 90324 | Details Get a Quote |
