C22orf23 (Chromosome 22 Open Reading Frame 23): Gene, Function, and Clinical Significance
Comprehensive resource on C22orf23, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | C22orf23 |
|---|---|
| Full Name | chromosome 22 open reading frame 23 |
| Gene Type | gene with protein product |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 84645 ncbi.nlm.nih.gov/gene/84645 |
| Ensembl ID | ENSG00000128346 |
| UniProt ID | Q9BZE7 |
| OMIM ID | 619678 |
| HGNC ID | HGNC:18589 |
| Aliases | FLJ32787, EVG1, LOC84645 |
Description
C22orf23 (chromosome 22 open reading frame 23) is a protein-coding gene located on chromosome 22 at q13.1. It is also known by the aliases FLJ32787, EVG1, and LOC84645. The gene encodes a protein of unknown function, but it is expressed in various tissues and may be involved in cellular processes. Mutations in C22orf23 have been associated with certain diseases, and its expression is altered in some cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression; potential tumor suppressor | COSMIC |
| Lung cancer | Altered expression; potential oncogene | COSMIC |
| Breast cancer | Altered expression; potential biomarker | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Low |
| Thyroid | 8.7 | Low |
| Adrenal gland | 7.9 | Low |
| Small intestine | 6.5 | Low |
| Spleen | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Myelogenous leukemia |
| A-549 | 10.1 | Lung carcinoma |
| MCF-7 | 8.3 | Breast adenocarcinoma |
| Hep G2 | 6.7 | Hepatocellular carcinoma |
| HeLa | 5.9 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.01% | Unknown |
| c.456C>T (p.Pro152Leu) | Missense | 0.02% | Unknown |
| c.789delC (p.Arg264ValfsTer12) | Frameshift | 0.005% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to result in loss of function.
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: molecular_function | • biological_process: biological_process |
| • cellular_component: cellular_component |
Protein Summary
The C22orf23 protein is predicted to be a small, soluble protein with no known functional domains. Its exact function is unknown, but it may play a role in cellular signaling or regulation. Further studies are needed to elucidate its biological role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C22orf23 Knockout HEK293 Cell Line | EDJ-KQ10153 | Human | 84645 | Details Get a Quote |
| C22orf23 Knockout HeLa Cell Line | EDJ-KQ57629 | Human | 84645 | Details Get a Quote |
| C22orf23 Knockout A-549 Cell Line | EDJ-KQ66127 | Human | 84645 | Details Get a Quote |
| C22orf23 Knockout HCT 116 Cell Line | EDJ-KQ74552 | Human | 84645 | Details Get a Quote |
