CCDC63: Coiled-Coil Domain Containing 63
A gene encoding a coiled-coil domain-containing protein with potential roles in ciliary function and spermatogenesis.
Gene Information Card
| Symbol | CCDC63 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 63 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 160335 ncbi.nlm.nih.gov/gene/160335 |
| Ensembl ID | ENSG00000139269 |
| UniProt ID | Q8N7M0 |
| OMIM ID | 614267 |
| HGNC ID | 26700 |
| Aliases | FLJ25333, MGC16384 |
Description
CCDC63 (Coiled-Coil Domain Containing 63) is a protein-coding gene located on chromosome 12q24.31. The encoded protein contains coiled-coil domains, which are often involved in structural roles, such as in cilia and flagella. CCDC63 is expressed in various tissues, with notable levels in testis, and is implicated in ciliary function and spermatogenesis. Limited disease associations have been reported, but mutations may affect male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Potential role in sperm flagellar assembly; loss-of-function may impair motility | Inferred from homology and expression data; no direct ClinVar entries as of 2025 |
| Primary ciliary dyskinesia | Possible involvement in ciliary structure; not confirmed | Hypothetical based on ciliary gene ontology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 8.2 | Low |
| Thyroid | 6.1 | Low |
| Lung | 5.0 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Low expression |
| HeLa | 3.2 | Low expression |
| K562 | 1.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown effect; not validated in disease |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) | • axoneme assembly (GO:0035082) |
Pathways
• Not assigned to any specific pathway in Reactome or KEGG
Protein Summary
The CCDC63 protein (UniProt Q8N7M0) is 467 amino acids long and contains coiled-coil domains. It is predicted to localize to the cytoplasm and cilia, suggesting a role in microtubule-based structures. Expression data indicate enrichment in testis, consistent with a function in sperm flagella. No crystal structure is available, and functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC63 Knockout HEK293 Cell Line | EDJ-KQ12759 | Human | 160762 | Details Get a Quote |
| CCDC63 Knockout HeLa Cell Line | EDJ-KQ58817 | Human | 160762 | Details Get a Quote |
| CCDC63 Knockout A-549 Cell Line | EDJ-KQ67301 | Human | 160762 | Details Get a Quote |
| CCDC63 Knockout HCT 116 Cell Line | EDJ-KQ75701 | Human | 160762 | Details Get a Quote |
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