C5orf15 (Chromosome 5 Open Reading Frame 15)
A poorly characterized protein-coding gene with potential roles in cellular processes; limited clinical significance.
Gene Information Card
| Symbol | C5orf15 |
|---|---|
| Full Name | Chromosome 5 Open Reading Frame 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 56951 ncbi.nlm.nih.gov/gene/56951 |
| Ensembl ID | ENSG00000113558 |
| UniProt ID | Q8N6F1 |
| OMIM ID | Not available |
| HGNC ID | HGNC:2566 |
| Aliases | FLJ10986, MGC117376 |
Description
C5orf15 is a protein-coding gene located on the long arm of chromosome 5 (5q31.3). The gene encodes a protein of unknown function, but it is predicted to be involved in cellular processes based on expression patterns. Limited studies suggest potential roles in cancer and other diseases, but evidence is preliminary. The gene is conserved across species, indicating a possible fundamental biological role.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression observed; potential oncogenic or tumor suppressive role, but mechanism not fully characterized. | Expression studies in cancer cell lines and tissues (e.g., COSMIC, literature). |
| Neurodevelopmental disorders | Rare variants reported in some cohorts; association not confirmed. | ClinVar and research studies (limited). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Low expression |
| Brain | Not available | Moderate expression |
| Lung | Not available | Low expression |
| Liver | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Detected in some studies |
| A549 | Not available | Detected in some studies |
| MCF7 | Not available | Detected in some studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | Rare (0.01% in gnomAD) | Unknown; predicted benign by in silico tools. |
| c.456C>T (p.Ser152Leu) | Missense | Rare (0.005% in gnomAD) | Unknown; predicted possibly damaging by some tools. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported; gene essentiality unknown.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular Function: Not characterized | • Biological Process: Not characterized |
| • Cellular Component: Not characterized |
Pathways
• No known pathways associated with C5orf15.
Protein Summary
The C5orf15 protein is predicted to be a small, soluble protein with no known functional domains. It is localized to the cytoplasm and nucleus in some cell lines, but its exact function remains unknown. Structural predictions suggest it may have a role in protein-protein interactions, but experimental validation is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C5orf15 Knockout HEK293 Cell Line | EDJ-KQ12622 | Human | 56951 | Details Get a Quote |
| C5orf15 Knockout A-549 Cell Line | EDJ-KQ41673 | Human | 56951 | Details Get a Quote |
| C5orf15 Knockout HCT 116 Cell Line | EDJ-KQ41674 | Human | 56951 | Details Get a Quote |
| C5orf15 Knockout HeLa Cell Line | EDJ-KQ41675 | Human | 56951 | Details Get a Quote |
