C9orf50
Chromosome 9 Open Reading Frame 50
Gene Information Card
| Symbol | C9orf50 |
|---|---|
| Full Name | chromosome 9 open reading frame 50 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 375287 ncbi.nlm.nih.gov/gene/375287 |
| Ensembl ID | ENSG00000188215 |
| UniProt ID | Q5VYV7 |
| OMIM ID | 617241 |
| HGNC ID | 28335 |
| Aliases | FLJ46321 |
Description
C9orf50 (chromosome 9 open reading frame 50) is a protein-coding gene located on the long arm of chromosome 9 (9q34.3). The gene encodes a protein of unknown function. Limited expression data suggest low to moderate expression in certain tissues. The gene is not currently associated with any specific disease in major databases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.3 | Low |
| Brain | 1.1 | Low |
| Lung | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| K562 | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Protein Summary
The C9orf50 protein (UniProt Q5VYV7) is 244 amino acids long with no characterized domains or known function. No functional studies have been published.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C9orf50 Knockout HEK293 Cell Line | EDJ-KQ12643 | Human | 375759 | Details Get a Quote |
| C9orf50 Knockout HeLa Cell Line | EDJ-KQ59934 | Human | 375759 | Details Get a Quote |
| C9orf50 Knockout A-549 Cell Line | EDJ-KQ68394 | Human | 375759 | Details Get a Quote |
| C9orf50 Knockout HCT 116 Cell Line | EDJ-KQ76774 | Human | 375759 | Details Get a Quote |
