C6orf89
Chromosome 6 Open Reading Frame 89
Gene Information Card
| Symbol | C6orf89 |
|---|---|
| Full Name | chromosome 6 open reading frame 89 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 138240 ncbi.nlm.nih.gov/gene/138240 |
| Ensembl ID | ENSG00000112319 |
| UniProt ID | Q6ZVM7 |
| OMIM ID | 616866 |
| HGNC ID | 21179 |
| Aliases | FLJ20171, MGC13170 |
Description
C6orf89 is a protein-coding gene located on chromosome 6p21.1. It encodes a protein of unknown function, though it is predicted to be involved in cellular processes based on expression data. The gene is conserved in vertebrates and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Brain | 5.1 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.0 | Moderate expression |
| HeLa | 6.5 | Moderate expression |
| K562 | 3.2 | Low expression |
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)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Protein Summary
The C6orf89 protein (UniProt Q6ZVM7) is 244 amino acids long with no characterized domains or known function. It is predicted to be intracellular, but experimental validation is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C6orf89 Knockout HEK293 Cell Line | EDJ-KQ8831 | Human | 221477 | Details Get a Quote |
| C6orf89 Knockout A-549 Cell Line | EDJ-KQ35136 | Human | 221477 | Details Get a Quote |
| C6orf89 Knockout HeLa Cell Line | EDJ-KQ35137 | Human | 221477 | Details Get a Quote |
| C6orf89 Knockout HCT 116 Cell Line | EDJ-KQ33891 | Human | 221477 | Details Get a Quote |
