C2orf76
Chromosome 2 Open Reading Frame 76
Gene Information Card
| Symbol | C2orf76 |
|---|---|
| Full Name | chromosome 2 open reading frame 76 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 130940 ncbi.nlm.nih.gov/gene/130940 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q8N6T3 |
| OMIM ID | - |
| HGNC ID | 26121 |
| Aliases | MGC13017, FLJ22662 |
Description
C2orf76 is a protein-coding gene located on chromosome 2q33.1. The encoded protein has no well-characterized function but is predicted to be involved in cellular processes. Expression data indicate broad but low-level expression across tissues. Limited disease associations have been reported.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | - | - |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Brain | 1.5 | Low |
| Lung | 1.1 | Low |
| Liver | 0.8 | Not detected |
| Kidney | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.5 | Low expression |
| HeLa | 1.8 | Low expression |
| K562 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Gene Ontology (GO)
| • molecular_function: unknown | • cellular_component: unknown |
| • biological_process: unknown |
Protein Summary
The C2orf76 protein (UniProt Q8N6T3) is 244 amino acids long with no characterized domains or known function. It is predicted to be intracellular but subcellular localization is not confirmed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C2orf76 Knockout HEK293 Cell Line | EDJ-KQ9237 | Human | 130355 | Details Get a Quote |
| C2orf76 Knockout A-549 Cell Line | EDJ-KQ35823 | Human | 130355 | Details Get a Quote |
| C2orf76 Knockout HCT 116 Cell Line | EDJ-KQ35824 | Human | 130355 | Details Get a Quote |
| C2orf76 Knockout HeLa Cell Line | EDJ-KQ35825 | Human | 130355 | Details Get a Quote |
