CCDC60: Coiled-Coil Domain Containing 60
A gene encoding a protein of unknown function, implicated in potential roles in cellular signaling and structural organization.
Gene Information Card
| Symbol | CCDC60 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 60 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 160857 ncbi.nlm.nih.gov/gene/160857 |
| Ensembl ID | ENSG00000150712 |
| UniProt ID | Q5T6V5 |
| OMIM ID | 617088 |
| HGNC ID | 26789 |
| Aliases | FLJ32709, MGC26733 |
Description
CCDC60 (Coiled-Coil Domain Containing 60) is a protein-coding gene located on chromosome 12q24.31. The encoded protein contains a coiled-coil domain, which is often involved in protein-protein interactions and structural functions. The specific biological function of CCDC60 is not fully characterized, but it may play roles in cellular signaling or cytoskeletal organization. Expression data suggest broad but low-level expression across multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No established disease association | Not applicable | No direct evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Brain | 1.8 | Low |
| Lung | 1.5 | Low |
| Liver | 1.2 | Low |
| Kidney | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.5 | Low expression |
| HeLa | 1.9 | Low expression |
| K562 | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | Not applicable | Not applicable | Not applicable |
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) | • identical protein binding (GO:0042802) |
Pathways
• No curated pathways available
Protein Summary
The CCDC60 protein (UniProt Q5T6V5) is 543 amino acids long and contains a coiled-coil domain. Its exact function is unknown, but it is predicted to be involved in protein-protein interactions. The protein is localized in the cytoplasm and possibly the nucleus. No enzymatic activity or disease-associated mutations have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC60 Knockout HEK293 Cell Line | EDJ-KQ12016 | Human | 160777 | Details Get a Quote |
| CCDC60 Knockout HeLa Cell Line | EDJ-KQ58818 | Human | 160777 | Details Get a Quote |
| CCDC60 Knockout A-549 Cell Line | EDJ-KQ67302 | Human | 160777 | Details Get a Quote |
| CCDC60 Knockout HCT 116 Cell Line | EDJ-KQ75702 | Human | 160777 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
