CCDC125: Coiled-Coil Domain Containing 125
A gene encoding a protein with coiled-coil domains, involved in cellular signaling and potentially linked to cancer and developmental processes.
Gene Information Card
| Symbol | CCDC125 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 125 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 202243 ncbi.nlm.nih.gov/gene/202243 |
| Ensembl ID | ENSG00000164172 |
| UniProt ID | Q96GE4 |
| OMIM ID | 617093 |
| HGNC ID | 26767 |
| Aliases | FLJ22662, MGC131831 |
Description
CCDC125 (Coiled-Coil Domain Containing 125) is a protein-coding gene located on chromosome 5q35.3. The encoded protein contains coiled-coil domains, which are structural motifs involved in protein-protein interactions, and is implicated in cellular signaling pathways, including JNK and NF-κB. CCDC125 may play a role in cell proliferation, migration, and apoptosis, with potential links to cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect signaling pathways (e.g., JNK, NF-κB) leading to uncontrolled cell growth. | COSMIC; literature |
| Developmental disorders | Potential role in embryogenesis; mutations may disrupt protein interactions. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.5 | Detectable |
| A549 | 8.0 | Low expression |
| MCF7 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature stop; likely loss of function |
| c.567G>A (p.Glu189Lys) | Missense | <0.1% | Unknown; predicted benign |
| c.890_891insA | Frameshift | <0.1% | Frameshift; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, c.890_891insA) are predicted to cause loss of function.
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 | • Cytoplasm |
| • Nucleus | • Signal transduction |
| • Apoptotic process |
Pathways
• JNK signaling pathway
• NF-κB signaling pathway
Protein Summary
The CCDC125 protein (UniProt Q96GE4) is 412 amino acids long and contains coiled-coil domains. It localizes to the cytoplasm and nucleus, and is involved in protein-protein interactions that modulate JNK and NF-κB signaling. The protein may regulate cell survival, proliferation, and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC125 Knockout HEK293 Cell Line | EDJ-KQ5143 | Human | 202243 | Details Get a Quote |
| CCDC125 Knockout A-549 Cell Line | EDJ-KQ28106 | Human | 202243 | Details Get a Quote |
| CCDC125 Knockout HeLa Cell Line | EDJ-KQ28108 | Human | 202243 | Details Get a Quote |
| CCDC125 Knockout HCT 116 Cell Line | EDJ-KQ26875 | Human | 202243 | Details Get a Quote |
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