CCDC181: Coiled-Coil Domain Containing 181
A gene encoding a protein with coiled-coil domains, associated with spermatogenesis and potential roles in ciliary function.
Gene Information Card
| Symbol | CCDC181 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 181 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 57819 ncbi.nlm.nih.gov/gene/57819 |
| Ensembl ID | ENSG00000143157 |
| UniProt ID | Q5T0N5 |
| OMIM ID | 618985 |
| HGNC ID | 26887 |
| Aliases | C1orf56, FLJ20315, MGC13170 |
Description
CCDC181 (coiled-coil domain containing 181) is a protein-coding gene located on chromosome 1q24.2. The encoded protein contains coiled-coil domains and is predominantly expressed in testis. It is involved in spermatogenesis and may play a role in ciliary or flagellar function. Mutations in CCDC181 have been associated with male infertility due to sperm flagellar defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with sperm flagellar defects | Loss-of-function mutations in CCDC181 disrupt sperm flagellar assembly, leading to asthenozoospermia | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Fallopian tube | 4.2 | Low |
| Prostate | 3.1 | Low |
| Thyroid | 2.0 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.8 | Low expression |
| HEK 293 | 1.2 | Low expression |
| K562 | 0.5 | Not detected |
| Testis cell lines | Not available | No data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34*) | Nonsense | Rare | Premature stop, loss of function |
| c.200_201del (p.Glu67fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Reported in male infertility; truncating mutations lead to loss of protein function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) | • spermatid development (GO:0007286) |
| • sperm flagellum (GO:0036126) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
• Cilium assembly (Reactome: R-HSA-5617833)
Protein Summary
The CCDC181 protein contains coiled-coil domains and is localized to the cytoplasm and cilia/flagella. It is highly expressed in testis and is essential for sperm flagellum formation. Loss-of-function mutations cause male infertility due to defective sperm motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC181 Knockout HEK293 Cell Line | EDJ-KQ12796 | Human | 57821 | Details Get a Quote |
| CCDC181 Knockout HeLa Cell Line | EDJ-KQ56920 | Human | 57821 | Details Get a Quote |
| CCDC181 Knockout A-549 Cell Line | EDJ-KQ65428 | Human | 57821 | Details Get a Quote |
| CCDC181 Knockout HCT 116 Cell Line | EDJ-KQ73865 | Human | 57821 | Details Get a Quote |
