C5orf63
Chromosome 5 Open Reading Frame 63
Gene Information Card
| Symbol | C5orf63 |
|---|---|
| Full Name | Chromosome 5 Open Reading Frame 63 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 401251 ncbi.nlm.nih.gov/gene/401251 |
| Ensembl ID | ENSG00000164172 |
| UniProt ID | Q6ZQY3 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:34478 |
| Aliases | MGC16384, FLJ45803 |
Description
C5orf63 is a protein-coding gene located on chromosome 5q31.3. The encoded protein has no well-characterized function, but transcript expression has been detected in various tissues. Limited functional data are available, and no disease associations have been firmly established.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Unknown | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.0 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.8 | Low expression |
| HeLa | 3.0 | Low expression |
| K562 | 1.2 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
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 C5orf63 protein (UniProt Q6ZQY3) is 244 amino acids long with no known domains or functional motifs. Its biological role remains uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C5orf63 Knockout HEK293 Cell Line | EDJ-KQ11626 | Human | 401207 | Details Get a Quote |
| C5orf63 Knockout A-549 Cell Line | EDJ-KQ39976 | Human | 401207 | Details Get a Quote |
| C5orf63 Knockout HCT 116 Cell Line | EDJ-KQ39977 | Human | 401207 | Details Get a Quote |
| C5orf63 Knockout HeLa Cell Line | EDJ-KQ39978 | Human | 401207 | Details Get a Quote |