C5orf52
Chromosome 5 Open Reading Frame 52
Gene Information Card
| Symbol | C5orf52 |
|---|---|
| Full Name | chromosome 5 open reading frame 52 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 339229 ncbi.nlm.nih.gov/gene/339229 |
| Ensembl ID | ENSG00000164172 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 617155 |
| HGNC ID | 26896 |
| Aliases | MGC13057, dJ1033B10.2 |
Description
C5orf52 is a protein-coding gene located on chromosome 5q31.3. Its function is not fully characterized, but it is predicted to be involved in cellular processes. Expression data suggest tissue-specific patterns, with potential roles in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may contribute to tumorigenesis | COSMIC database reports mutations in various cancers |
| Breast cancer | Somatic mutations observed | COSMIC |
| Lung cancer | Somatic mutations observed | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Thyroid | 8.1 | Low |
| Prostate | 6.5 | Low |
| Lung | 4.3 | Low |
| Breast | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| A549 | 7.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Unknown |
| c.100C>T | nonsense | 0.005% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • molecular_function: unknown | • biological_process: unknown |
| • cellular_component: unknown |
Protein Summary
The C5orf52 protein (UniProt Q8N6T3) is 152 amino acids long. Its molecular function and biological role remain largely uncharacterized, though it is predicted to be a soluble protein with no known domains.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C5orf52 Knockout HEK293 Cell Line | EDJ-KQ12625 | Human | 100190949 | Details Get a Quote |
| C5orf52 Knockout HeLa Cell Line | EDJ-KQ60849 | Human | 100190949 | Details Get a Quote |
| C5orf52 Knockout A-549 Cell Line | EDJ-KQ69322 | Human | 100190949 | Details Get a Quote |
| C5orf52 Knockout HCT 116 Cell Line | EDJ-KQ77676 | Human | 100190949 | Details Get a Quote |
