CCDC9 (Coiled-Coil Domain Containing 9)
A gene encoding a coiled-coil domain-containing protein with potential roles in cellular signaling and cancer.
Gene Information Card
| Symbol | CCDC9 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 26093 ncbi.nlm.nih.gov/gene/26093 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q9Y3X0 |
| OMIM ID | 617726 |
| HGNC ID | 25897 |
| Aliases | FLJ11273, MGC138290 |
Description
CCDC9 (Coiled-Coil Domain Containing 9) is a protein-coding gene located on chromosome 19q13.33. The encoded protein contains coiled-coil domains, which are structural motifs involved in protein-protein interactions. CCDC9 is expressed in various tissues and has been implicated in cellular signaling and cancer progression. Limited functional studies suggest a role in cell cycle regulation and potential tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Altered expression and mutations in CCDC9 may contribute to tumorigenesis through disrupted protein interactions. | COSMIC, ClinVar |
| Breast Cancer | Somatic mutations and copy number alterations observed in breast cancer samples. | COSMIC |
| Colorectal Cancer | Mutations in CCDC9 reported in colorectal cancer, potential role in cell proliferation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Medium |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.3 | Embryonic kidney cells |
| A549 | 7.1 | Lung carcinoma |
| MCF7 | 6.5 | Breast cancer |
| HCT 116 | 5.9 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; predicted benign |
| c.205G>A (p.Gly69Arg) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.340_341insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.340_341insA) likely result in truncated protein and loss of normal function.
Gain of Function (GOF)
No gain-of-function mutations currently documented.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • identical protein binding (GO:0042802) |
Pathways
• No specific pathways curated in Reactome or KEGG for CCDC9.
Protein Summary
The CCDC9 protein (UniProt Q9Y3X0) is 448 amino acids long and contains coiled-coil domains. It is localized to the nucleus and cytoplasm, and is involved in protein-protein interactions. The protein is expressed in multiple tissues, with highest levels in testis and thyroid. Its exact biological function remains under investigation, but it may play a role in cell cycle regulation and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC9 Knockout HEK293 Cell Line | EDJ-KQ8397 | Human | 26093 | Details Get a Quote |
| CCDC92 Knockout HEK293 Cell Line | EDJ-KQ9489 | Human | 80212 | Details Get a Quote |
| CCDC97 Knockout HEK293 Cell Line | EDJ-KQ10584 | Human | 90324 | Details Get a Quote |
| CCDC93 Knockout HEK293 Cell Line | EDJ-KQ11450 | Human | 54520 | Details Get a Quote |
| CCDC91 Knockout HEK293 Cell Line | EDJ-KQ11888 | Human | 55297 | Details Get a Quote |
| CCDC9B Knockout HEK293 Cell Line | EDJ-KQ12749 | Human | 388115 | Details Get a Quote |
| CCDC90B Knockout HEK293 Cell Line | EDJ-KQ12770 | Human | 60492 | Details Get a Quote |
| CCDC92B Knockout HEK293 Cell Line | EDJ-KQ12772 | Human | 101928991 | Details Get a Quote |
| CCDC92 Knockout A-549 Cell Line | EDJ-KQ36216 | Human | 80212 | 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 |
| CCDC9 Knockout A-549 Cell Line | EDJ-KQ34468 | Human | 26093 | Details Get a Quote |
| CCDC9 Knockout HCT 116 Cell Line | EDJ-KQ34469 | Human | 26093 | Details Get a Quote |
| CCDC9 Knockout HeLa Cell Line | EDJ-KQ34470 | Human | 26093 | Details Get a Quote |
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