C5orf22 (Chromosome 5 Open Reading Frame 22): Gene Overview and Clinical Significance
Comprehensive resource for C5orf22, including genomic context, expression, mutations, and potential disease associations.
Gene Information Card
| Symbol | C5orf22 |
|---|---|
| Full Name | chromosome 5 open reading frame 22 |
| Gene Type | gene with protein product |
| Chromosomal Location | 5p13.3 |
| NCBI Gene ID | 55322 ncbi.nlm.nih.gov/gene/55322 |
| Ensembl ID | ENSG00000082213 |
| UniProt ID | Q49AR2 |
| OMIM ID | Not available |
| HGNC ID | HGNC:25639 |
| Aliases | FLJ11193 |
Description
C5orf22 (chromosome 5 open reading frame 22) is a protein-coding gene located on the short arm of chromosome 5 at band 5p13.3. It is also known by the alias FLJ11193. The gene spans approximately 15.5 kb on the plus strand and contains 10 exons. The encoded protein is 340 amino acids long with a predicted molecular mass of about 38 kDa. Its function is not fully characterized, but it is expressed in various tissues and may play a role in cellular processes. No OMIM entry is available, indicating limited clinical characterization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No specific disease association has been confirmed for C5orf22. | No direct evidence from ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.7 | Low |
| Adrenal gland | 7.9 | Low |
| Lung | 6.5 | Low |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Hep G2 | 8.1 | Hepatocellular carcinoma |
| A549 | 6.3 | Lung carcinoma |
| MCF7 | 5.4 | Breast adenocarcinoma |
| K-562 | 4.8 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Ala41Val) | Missense | 0.01% (gnomAD) | Unknown |
| c.456G>A (p.Thr152Thr) | Synonymous | 0.05% (gnomAD) | Likely benign |
| c.789delC (p.Pro264LeufsTer5) | Frameshift | Not reported | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations such as c.789delC are predicted to result in a truncated protein, likely leading to 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: Not characterized | • Biological process: Not characterized |
| • Cellular component: Not characterized |
Protein Summary
The C5orf22 protein is predicted to be a soluble protein with no transmembrane domains. It contains a conserved domain of unknown function (DUF4600) and is localized to the cytoplasm. Its exact function remains unknown, but it may be involved in protein-protein interactions or signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C5orf22 Knockout HEK293 Cell Line | EDJ-KQ12623 | Human | 55322 | Details Get a Quote |
| C5orf22 Knockout A-549 Cell Line | EDJ-KQ41676 | Human | 55322 | Details Get a Quote |
| C5orf22 Knockout HCT 116 Cell Line | EDJ-KQ41677 | Human | 55322 | Details Get a Quote |
| C5orf22 Knockout HeLa Cell Line | EDJ-KQ41678 | Human | 55322 | Details Get a Quote |
