CCDC83: Coiled-Coil Domain Containing 83
A gene encoding a protein of unknown function, implicated in ciliary and flagellar biology.
Gene Information Card
| Symbol | CCDC83 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 83 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q14.1 |
| NCBI Gene ID | 220047 ncbi.nlm.nih.gov/gene/220047 |
| Ensembl ID | ENSG00000182670 |
| UniProt ID | Q8N4S0 |
| OMIM ID | Not assigned |
| HGNC ID | 26767 |
| Aliases | FLJ32743, MGC26733 |
Description
CCDC83 (coiled-coil domain containing 83) is a protein-coding gene located on chromosome 11q14.1. The encoded protein contains coiled-coil domains, which are often involved in structural roles within cilia and flagella. Its specific biological function remains largely uncharacterized, but expression data suggest a role in ciliated tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association currently curated | Unknown | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Fallopian tube | 10.1 | Low |
| Lung | 6.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Very low |
| HEK 293 | 0.3 | Very low |
| HUVEC | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Protein Summary
The CCDC83 protein (UniProt Q8N4S0) is 412 amino acids long and contains coiled-coil domains. Its function is unknown, but it is predicted to localize to the cytoplasm and may be involved in ciliary or flagellar structure based on tissue expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC83 Knockout HEK293 Cell Line | EDJ-KQ8514 | Human | 220047 | Details Get a Quote |
| CCDC83 Knockout HeLa Cell Line | EDJ-KQ59132 | Human | 220047 | Details Get a Quote |
| CCDC83 Knockout A-549 Cell Line | EDJ-KQ67606 | Human | 220047 | Details Get a Quote |
| CCDC83 Knockout HCT 116 Cell Line | EDJ-KQ75994 | Human | 220047 | Details Get a Quote |
