CCDC68
Coiled-Coil Domain Containing 68
Gene Information Card
| Symbol | CCDC68 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 68 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 25777 ncbi.nlm.nih.gov/gene/25777 |
| Ensembl ID | ENSG00000134369 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 617336 |
| HGNC ID | 26467 |
| Aliases | FLJ10884, MGC13125 |
Description
CCDC68 (coiled-coil domain containing 68) is a protein-coding gene located on chromosome 18q21.1. 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 processes such as cell cycle regulation or cytoskeletal organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Lung | 5.0 | Low |
| Breast | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney |
| HeLa | 7.8 | Cervical carcinoma |
| A549 | 6.5 | Lung carcinoma |
| MCF7 | 5.2 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No recurrent mutations 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) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Protein Summary
The CCDC68 protein (UniProt Q5VUJ9) is 543 amino acids long and contains a coiled-coil domain. Its exact function is unknown, but it is predicted to localize to the nucleus and cytoplasm and may participate in protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC68 Knockout HEK293 Cell Line | EDJ-KQ9524 | Human | 80323 | Details Get a Quote |
| CCDC68 Knockout A-549 Cell Line | EDJ-KQ36289 | Human | 80323 | Details Get a Quote |
| CCDC68 Knockout HCT 116 Cell Line | EDJ-KQ36290 | Human | 80323 | Details Get a Quote |
| CCDC68 Knockout HeLa Cell Line | EDJ-KQ36291 | Human | 80323 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
