C5orf47: Chromosome 5 Open Reading Frame 47
A poorly characterized protein-coding gene with potential roles in cancer and cellular processes
Gene Information Card
| Symbol | C5orf47 |
|---|---|
| Full Name | Chromosome 5 Open Reading Frame 47 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 729085 ncbi.nlm.nih.gov/gene/729085 |
| Ensembl ID | ENSG00000253797 |
| UniProt ID | Q5T6F2 |
| OMIM ID | Not available |
| HGNC ID | HGNC:34478 |
| Aliases | FLJ37786 |
Description
C5orf47 is a protein-coding gene located on the long arm of chromosome 5 (5q31.3). It encodes a protein of unknown function, but recent studies suggest potential involvement in cellular processes and cancer. The gene is expressed in various tissues, with notable levels in the testis and certain cancer cell lines. Mutations and altered expression have been observed in some cancers, but the functional significance remains to be fully elucidated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations observed; exact mechanism unclear | COSMIC database shows mutations in cancer samples |
| Prostate cancer | Upregulation in tumor tissues; potential oncogenic role | Expression data from GTEx and cancer studies |
| Lung cancer | Methylation changes and expression differences | COSMIC and literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.4 | Medium |
| Thyroid | 8.1 | Low |
| Adrenal gland | 6.3 | Low |
| Prostate | 5.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression in cervical cancer cell line |
| A549 | 8.7 | Moderate expression in lung cancer cell line |
| MCF7 | 6.5 | Low expression in breast cancer cell line |
| K562 | 3.2 | Low expression in leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.01% (gnomAD) | Unknown effect; possibly benign |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% (gnomAD) | Unknown effect; possibly damaging |
| c.789delC (p.Pro263fs) | Frameshift | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of function, but no confirmed phenotype.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not characterized | • Biological process: Not characterized |
| • Cellular component: Not characterized |
Protein Summary
The C5orf47 protein is predicted to be a small, soluble protein with no known domains or motifs. Its function is unknown, but it may be involved in cell signaling or transcriptional regulation based on expression patterns. Further studies are needed to characterize its role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C5orf47 Knockout HEK293 Cell Line | EDJ-KQ9315 | Human | 133491 | Details Get a Quote |
| C5orf47 Knockout HeLa Cell Line | EDJ-KQ58328 | Human | 133491 | Details Get a Quote |
| C5orf47 Knockout A-549 Cell Line | EDJ-KQ66815 | Human | 133491 | Details Get a Quote |
| C5orf47 Knockout HCT 116 Cell Line | EDJ-KQ75219 | Human | 133491 | Details Get a Quote |
