C6orf118
Chromosome 6 Open Reading Frame 118
Gene Information Card
| Symbol | C6orf118 |
|---|---|
| Full Name | chromosome 6 open reading frame 118 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 64759 ncbi.nlm.nih.gov/gene/64759 |
| Ensembl ID | ENSG00000146090 |
| UniProt ID | Q5T6F2 |
| OMIM ID | Not available |
| HGNC ID | HGNC:21230 |
| Aliases | MGC13170, dJ1033B10.2 |
Description
C6orf118 is a protein-coding gene located on chromosome 6q22.31. The encoded protein has no well-characterized function, but transcript expression has been detected in various tissues. Limited data are available regarding its role in normal physiology or disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.4 | Low expression |
| HeLa | 2.0 | Low expression |
| K562 | 1.1 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | Not applicable | Not applicable | Not applicable |
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 C6orf118 protein (UniProt Q5T6F2) is of unknown function. It is predicted to be intracellular, but no specific domains or motifs have been experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C6orf118 Knockout HEK293 Cell Line | EDJ-KQ12630 | Human | 168090 | Details Get a Quote |
| C6orf118 Knockout HeLa Cell Line | EDJ-KQ58910 | Human | 168090 | Details Get a Quote |
| C6orf118 Knockout A-549 Cell Line | EDJ-KQ67398 | Human | 168090 | Details Get a Quote |
| C6orf118 Knockout HCT 116 Cell Line | EDJ-KQ75792 | Human | 168090 | Details Get a Quote |