C6orf62 (Chromosome 6 Open Reading Frame 62)
A poorly characterized protein-coding gene with potential roles in cellular processes and disease.
Gene Information Card
| Symbol | C6orf62 |
|---|---|
| Full Name | Chromosome 6 Open Reading Frame 62 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6q25.1 |
| NCBI Gene ID | 81620 ncbi.nlm.nih.gov/gene/81620 |
| Ensembl ID | ENSG00000112419 |
| UniProt ID | Q9H6Z9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:21073 |
| Aliases | FLJ10154, bA397G5.3 |
Description
C6orf62 is a protein-coding gene located on chromosome 6 at q25.1. It encodes a protein of unknown function, though it is predicted to be involved in cellular processes based on expression and interaction data. The gene is conserved across species, suggesting an essential biological role. Limited studies have linked C6orf62 to certain cancers and neurological conditions, but detailed functional characterization is still lacking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression; potential oncogenic or tumor suppressive role | COSMIC lists somatic mutations in multiple cancer types; expression changes noted in some studies |
| Neurodevelopmental disorders | Possible involvement in neuronal function; rare variants reported | ClinVar has limited entries; some case reports suggest association |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | Not available | Low to moderate expression in some datasets |
| Testis | Not available | High expression in testis (based on GTEx-like data) |
| Kidney | Not available | Moderate expression |
| Liver | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Detected in some RNA-seq studies |
| HEK293 | Not available | Detected in some RNA-seq studies |
| K562 | Not available | Detected in some RNA-seq studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | Rare | Unknown; predicted benign by in silico tools |
| c.456C>T (p.Ser152Leu) | Missense | Rare | Unknown; predicted possibly damaging |
| c.789del (p.Glu264fs) | Frameshift | Very rare | Likely loss of function; may contribute to disease if biallelic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to loss of function, but no established phenotype.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not characterized | • Biological process: Not characterized |
| • Cellular component: Not characterized |
Protein Summary
The C6orf62 protein is 289 amino acids long with no known functional domains. It is predicted to be localized in the cytoplasm or nucleus. No post-translational modifications have been experimentally verified. Its function remains largely unknown, but it may interact with other proteins involved in cell cycle or signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C6orf62 Knockout HEK293 Cell Line | EDJ-KQ9738 | Human | 81688 | Details Get a Quote |
| C6orf62 Knockout A-549 Cell Line | EDJ-KQ36565 | Human | 81688 | Details Get a Quote |
| C6orf62 Knockout HCT 116 Cell Line | EDJ-KQ36566 | Human | 81688 | Details Get a Quote |
| C6orf62 Knockout HeLa Cell Line | EDJ-KQ36567 | Human | 81688 | Details Get a Quote |
