C7orf57
Chromosome 7 Open Reading Frame 57
Gene Information Card
| Symbol | C7orf57 |
|---|---|
| Full Name | Chromosome 7 Open Reading Frame 57 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 136288 ncbi.nlm.nih.gov/gene/136288 |
| Ensembl ID | ENSG00000146540 |
| UniProt ID | Q8N6G6 |
| OMIM ID | Not available |
| HGNC ID | 26760 |
| Aliases | FLJ32743 |
Description
C7orf57 is a protein-coding gene located on chromosome 7q22.1. The encoded protein has no well-characterized function, but expression data suggest it may be involved in cellular processes. Limited information is available from public databases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.5 | Low |
| Brain | 0.2 | Low |
| Lung | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.3 | Low expression |
| HeLa | 0.2 | Low expression |
| K562 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants in COSMIC | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not determined
Gain of Function (GOF)
Not determined
Dominant Negative (DN)
Not determined
View complete mutation data：
Protein Summary
The C7orf57 protein (UniProt Q8N6G6) is of unknown function. No structural or functional domains have been characterized. Expression is low across tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C7orf57 Knockout HEK293 Cell Line | EDJ-KQ9380 | Human | 136288 | Details Get a Quote |
| C7orf57 Knockout HeLa Cell Line | EDJ-KQ58365 | Human | 136288 | Details Get a Quote |
| C7orf57 Knockout A-549 Cell Line | EDJ-KQ66852 | Human | 136288 | Details Get a Quote |
| C7orf57 Knockout HCT 116 Cell Line | EDJ-KQ75257 | Human | 136288 | Details Get a Quote |
