CCDC82
Coiled-Coil Domain Containing 82
Gene Information Card
| Symbol | CCDC82 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 82 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 79880 ncbi.nlm.nih.gov/gene/79880 |
| Ensembl ID | ENSG00000149196 |
| UniProt ID | Q8N4S0 |
| OMIM ID | 617291 |
| HGNC ID | 28314 |
| Aliases | FLJ22662, MGC131831 |
Description
CCDC82 (Coiled-Coil Domain Containing 82) is a protein-coding gene located on chromosome 11q23.3. The encoded protein contains a coiled-coil domain, which is often involved in protein-protein interactions. Its specific biological function is not fully characterized, but it may play a role in cellular signaling or structural organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported | Not applicable | No evidence in ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Brain | 4.3 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.2 | Low expression |
| A549 | 4.0 | Low expression |
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 loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Protein binding (GO:0005515) | • Cytoplasm (GO:0005737) |
Protein Summary
The CCDC82 protein (UniProt Q8N4S0) is 447 amino acids long and contains a coiled-coil domain. Its molecular function is predicted to involve protein binding, and it is localized in the cytoplasm. The protein's exact role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC82 Knockout HEK293 Cell Line | EDC90431 | Human | 79780 | Details Get a Quote |
| CCDC82 Knockout A-549 Cell Line | EDJ-KQ41891 | Human | 79780 | Details Get a Quote |
| CCDC82 Knockout HCT 116 Cell Line | EDJ-KQ41892 | Human | 79780 | Details Get a Quote |
| CCDC82 Knockout HeLa Cell Line | EDJ-KQ41893 | Human | 79780 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
