CCDC81: Coiled-Coil Domain Containing 81
A gene encoding a coiled-coil domain-containing protein with potential roles in ciliary function and spermatogenesis.
Gene Information Card
| Symbol | CCDC81 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 81 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 60494 ncbi.nlm.nih.gov/gene/60494 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q8N4S0 |
| OMIM ID | 617066 |
| HGNC ID | 26170 |
| Aliases | FLJ22624, MGC138290 |
Description
CCDC81 encodes a protein containing a coiled-coil domain, a structural motif involved in protein-protein interactions. The gene is expressed in ciliated tissues and is implicated in ciliary function and spermatogenesis. Limited functional studies suggest a role in microtubule-based structures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Disruption of ciliary motility due to defective CCDC81 protein | Inferred from ciliary expression and homology; no direct ClinVar entry |
| Male infertility | Potential role in sperm flagella assembly | Expression in testis and ciliary association |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 4.2 | Low |
| Brain | 2.1 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.5 | Low expression |
| HeLa | 2.0 | Low expression |
| A549 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T | Missense | <0.01% | Unknown |
| c.250G>A | Synonymous | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) |
Pathways
• Cilium assembly
• Microtubule-based movement
Protein Summary
The CCDC81 protein is 512 amino acids long and contains a coiled-coil domain. It is predicted to localize to the cytoplasm and cilia, suggesting involvement in cytoskeletal organization. Expression data indicate enrichment in testis, consistent with a role in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC81 Knockout HEK293 Cell Line | EDJ-KQ12765 | Human | 60494 | Details Get a Quote |
| CCDC81 Knockout HeLa Cell Line | EDJ-KQ56981 | Human | 60494 | Details Get a Quote |
| CCDC81 Knockout A-549 Cell Line | EDJ-KQ65483 | Human | 60494 | Details Get a Quote |
| CCDC81 Knockout HCT 116 Cell Line | EDJ-KQ73921 | Human | 60494 | Details Get a Quote |
