C5orf46
Chromosome 5 Open Reading Frame 46
Gene Information Card
| Symbol | C5orf46 |
|---|---|
| Full Name | chromosome 5 open reading frame 46 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 389336 ncbi.nlm.nih.gov/gene/389336 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q8N7M0 |
| OMIM ID | - |
| HGNC ID | 34304 |
| Aliases | MGC45871 |
Description
C5orf46 is a protein-coding gene located on chromosome 5q31.3. Its function is not fully characterized, but it is predicted to be involved in cellular processes. Expression data suggest low to moderate levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.3 | Low |
| Thyroid | 1.8 | Low |
| Prostate | 1.5 | Low |
| Adrenal gland | 1.2 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| HeLa | 0.3 | Low expression |
| K562 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | - | - | - |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Protein Summary
The C5orf46 protein is predicted to be a small, uncharacterized protein with no known domains or functional motifs. Its biological role remains unclear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C5orf46 Knockout HEK293 Cell Line | EDJ-KQ12624 | Human | 389336 | Details Get a Quote |
| C5orf46 Knockout HeLa Cell Line | EDJ-KQ41683 | Human | 389336 | Details Get a Quote |
| C5orf46 Knockout A-549 Cell Line | EDJ-KQ68543 | Human | 389336 | Details Get a Quote |
| C5orf46 Knockout HCT 116 Cell Line | EDJ-KQ76918 | Human | 389336 | Details Get a Quote |
