CCDC134: Coiled-Coil Domain Containing 134
A gene encoding a protein with potential roles in cell signaling and cancer, located on chromosome 9q34.3.
Gene Information Card
| Symbol | CCDC134 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 134 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 79879 ncbi.nlm.nih.gov/gene/79879 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q9H6E4 |
| OMIM ID | 617733 |
| HGNC ID | 26170 |
| Aliases | FLJ12606, bA203I16.1 |
Description
CCDC134 is a protein-coding gene located on chromosome 9q34.3. The encoded protein contains a coiled-coil domain and is involved in cell signaling, potentially regulating MAPK and JAK-STAT pathways. It is expressed in various tissues and has been implicated in cancer progression and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect MAPK/ERK signaling; potential tumor suppressor or oncogene depending on context. | COSMIC; literature (PMID: 25691811) |
| Breast cancer | Downregulation associated with poor prognosis; may regulate cell proliferation. | COSMIC; literature (PMID: 25691811) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.5 | Medium |
| Lung | 6.2 | Low |
| Breast | 5.1 | Low |
| Brain | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 8.7 | Moderate expression in cervical cancer cells |
| MCF7 | 4.3 | Low expression in breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.632C>T (p.Thr211Met) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in major databases.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • coiled-coil domain |
| • cytoplasm | • nucleus |
| • signal transduction |
Pathways
• MAPK signaling pathway
• JAK-STAT signaling pathway
Protein Summary
The CCDC134 protein (UniProt Q9H6E4) is a 244-amino acid protein containing a coiled-coil domain. It localizes to the cytoplasm and nucleus and is thought to modulate MAPK and JAK-STAT signaling, influencing cell proliferation and differentiation. Its exact molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC134 Knockout HEK293 Cell Line | EDJ-KQ11909 | Human | 79879 | Details Get a Quote |
| CCDC134 Knockout HeLa Cell Line | EDJ-KQ39144 | Human | 79879 | Details Get a Quote |
| CCDC134 Knockout A-549 Cell Line | EDJ-KQ40386 | Human | 79879 | Details Get a Quote |
| CCDC134 Knockout HCT 116 Cell Line | EDJ-KQ40387 | Human | 79879 | Details Get a Quote |
