C9orf57 (Chromosome 9 Open Reading Frame 57)
A poorly characterized protein-coding gene with potential roles in cellular processes; limited clinical significance.
Gene Information Card
| Symbol | C9orf57 |
|---|---|
| Full Name | chromosome 9 open reading frame 57 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 138162 ncbi.nlm.nih.gov/gene/138162 |
| Ensembl ID | ENSG00000180573 |
| UniProt ID | Q5VUJ5 |
| OMIM ID | 617547 |
| HGNC ID | 28078 |
| Aliases | bA203J24.7, C9orf57 |
Description
C9orf57 is a protein-coding gene located on chromosome 9 at q34.3. It encodes a protein of unknown function, with no well-established biological role. The gene is expressed in various tissues, but its physiological significance remains largely unexplored. No strong disease associations have been reported to date.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Low expression (based on GTEx, not nTPM) |
| Brain | Not available | Low expression |
| Liver | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Detected in some RNA-seq datasets |
| HEK293 | Not available | Detected in some RNA-seq datasets |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not reported | No known effect |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Protein Summary
The C9orf57 protein is predicted to be a small, soluble protein with no known domains or motifs. Its function is unknown, and it has no significant homology to characterized proteins. Subcellular localization is not experimentally determined.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C9orf57 Knockout HEK293 Cell Line | EDJ-KQ8643 | Human | 138240 | Details Get a Quote |
| C9orf57 Knockout HeLa Cell Line | EDJ-KQ58388 | Human | 138240 | Details Get a Quote |
| C9orf57 Knockout A-549 Cell Line | EDJ-KQ66876 | Human | 138240 | Details Get a Quote |
| C9orf57 Knockout HCT 116 Cell Line | EDJ-KQ75278 | Human | 138240 | Details Get a Quote |
