CCDC7 (Coiled-Coil Domain Containing 7)
A gene encoding a coiled-coil domain-containing protein with potential roles in ciliary function and spermatogenesis.
Gene Information Card
| Symbol | CCDC7 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.33 |
| NCBI Gene ID | 152206 ncbi.nlm.nih.gov/gene/152206 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q6ZR08 |
| OMIM ID | 614423 |
| HGNC ID | 26769 |
| Aliases | FLJ32709, MGC138290 |
Description
CCDC7 encodes a protein containing a coiled-coil domain, a structural motif involved in protein-protein interactions. The gene is predominantly expressed in testis and ciliated tissues, suggesting a role in spermatogenesis and ciliary function. Limited functional studies indicate potential involvement in microtubule-based processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (suspected) | Defects in ciliary assembly or motility due to altered CCDC7 function | Inferred from expression pattern and coiled-coil domain; no direct ClinVar or OMIM disease association confirmed. |
| Male infertility (spermatogenic failure) | Impaired sperm flagella formation or motility | Based on high testis expression; no direct evidence in curated databases. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.6 | High |
| Fallopian tube | 8.2 | Medium |
| Bronchus | 5.1 | Low |
| Lung | 4.3 | Low |
| Thyroid | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 2.1 | Low expression |
| K-562 | 1.5 | Low expression |
| HeLa | 1.2 | Low expression |
| A549 | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% (gnomAD) | Predicted loss-of-function; no disease association reported in ClinVar. |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% (gnomAD) | Predicted loss-of-function; no clinical significance. |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) | • spermatogenesis (GO:0007283) |
Pathways
• No curated pathway annotations in Reactome or KEGG for CCDC7.
Protein Summary
The CCDC7 protein (UniProt Q6ZR08) contains a coiled-coil domain and is predicted to localize to the cytoplasm and cilium. It is highly expressed in testis, suggesting a role in spermatogenesis. No enzymatic function or structural details have been experimentally characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC78 Knockout HEK293 Cell Line | EDJ-KQ8448 | Human | 124093 | Details Get a Quote |
| CCDC7 Knockout HEK293 Cell Line | EDJ-KQ8790 | Human | 79741 | Details Get a Quote |
| CCDC70 Knockout HEK293 Cell Line | EDJ-KQ9842 | Human | 83446 | Details Get a Quote |
| CCDC77 Knockout HEK293 Cell Line | EDJ-KQ10066 | Human | 84318 | Details Get a Quote |
| CCDC74A Knockout HEK293 Cell Line | EDJ-KQ10615 | Human | 90557 | Details Get a Quote |
| CCDC74B Knockout HEK293 Cell Line | EDJ-KQ10731 | Human | 91409 | Details Get a Quote |
| CCDC71 Knockout HEK293 Cell Line | EDJ-KQ12761 | Human | 64925 | Details Get a Quote |
| CCDC71L Knockout HEK293 Cell Line | EDJ-KQ12762 | Human | 168455 | Details Get a Quote |
| CCDC73 Knockout HEK293 Cell Line | EDJ-KQ12763 | Human | 493860 | Details Get a Quote |
| CCDC7 Knockout A-549 Cell Line | EDJ-KQ35070 | Human | 79741 | Details Get a Quote |
| CCDC7 Knockout HCT 116 Cell Line | EDJ-KQ35071 | Human | 79741 | Details Get a Quote |
| CCDC7 Knockout HeLa Cell Line | EDJ-KQ35072 | Human | 79741 | Details Get a Quote |
| CCDC77 Knockout A-549 Cell Line | EDJ-KQ37114 | Human | 84318 | Details Get a Quote |
| CCDC77 Knockout HCT 116 Cell Line | EDJ-KQ37115 | Human | 84318 | Details Get a Quote |
| CCDC77 Knockout HeLa Cell Line | EDJ-KQ37116 | Human | 84318 | Details Get a Quote |
Displaying Records 1 To 15 Of 36 Records
- 1
- 2
- Next Page »
