CCDC42 Coiled-Coil Domain Containing 42
A gene encoding a coiled-coil domain-containing protein with potential roles in cellular organization and signaling.
Gene Information Card
| Symbol | CCDC42 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 42 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 146713 ncbi.nlm.nih.gov/gene/146713 |
| Ensembl ID | ENSG00000178425 |
| UniProt ID | Q96M91 |
| OMIM ID | 618462 |
| HGNC ID | 26896 |
| Aliases | MGC13057, bA203J24.3 |
Description
CCDC42 (Coiled-Coil Domain Containing 42) is a protein-coding gene located on chromosome 17p13.1. The encoded protein contains a coiled-coil domain, which is often involved in protein-protein interactions and structural organization. CCDC42 is expressed in various tissues and may play roles in cellular processes such as cytoskeletal organization and signal transduction. Limited functional studies suggest potential involvement in development and disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Unknown | No direct evidence from ClinVar, OMIM, or COSMIC as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 4.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.5 | Low |
| Liver | 0.8 | Not detected |
| Kidney | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.5 | Low expression |
| HeLa | 2.0 | Low expression |
| K562 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• No curated pathways available.
Protein Summary
The CCDC42 protein (UniProt Q96M91) is 244 amino acids long and contains a coiled-coil domain. Its exact function is not well characterized, but it is predicted to localize to the cytoplasm and may participate in protein-protein interactions. No enzymatic activity or structural motifs beyond the coiled-coil have been identified.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC42 Knockout HEK293 Cell Line | EDJ-KQ10497 | Human | 146849 | Details Get a Quote |
| CCDC42 Knockout HeLa Cell Line | EDJ-KQ58560 | Human | 146849 | Details Get a Quote |
| CCDC42 Knockout A-549 Cell Line | EDJ-KQ67049 | Human | 146849 | Details Get a Quote |
| CCDC42 Knockout HCT 116 Cell Line | EDJ-KQ75449 | Human | 146849 | Details Get a Quote |
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