C6orf52
Chromosome 6 Open Reading Frame 52
Gene Information Card
| Symbol | C6orf52 |
|---|---|
| Full Name | Chromosome 6 Open Reading Frame 52 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 221718 ncbi.nlm.nih.gov/gene/221718 |
| Ensembl ID | ENSG00000124615 |
| UniProt ID | Q5T6F2 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:21008 |
| Aliases | FLJ25416 |
Description
C6orf52 is a protein-coding gene located on the long arm of chromosome 6 (6q22.31). The gene encodes a protein of unknown function. Limited expression data suggest low to moderate expression in certain tissues. No disease associations have been established to date.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No known disease associations | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 1.5 | Low |
| Lung | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.2 | Low expression |
| HeLa | 0.9 | Not detected |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Protein Summary
The C6orf52 protein (UniProt Q5T6F2) is 247 amino acids long. Its molecular function and biological role remain uncharacterized. No structural domains or functional motifs have been confidently identified.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C6orf52 Knockout HEK293 Cell Line | EDJ-KQ12628 | Human | 347744 | Details Get a Quote |
| C6orf52 Knockout A-549 Cell Line | EDJ-KQ41690 | Human | 347744 | Details Get a Quote |
| C6orf52 Knockout HCT 116 Cell Line | EDJ-KQ41691 | Human | 347744 | Details Get a Quote |
| C6orf52 Knockout HeLa Cell Line | EDJ-KQ59829 | Human | 347744 | Details Get a Quote |
