C22orf39: Chromosome 22 Open Reading Frame 39 – Gene Overview, Expression, and Clinical Relevance
A comprehensive biomedical resource on C22orf39, including genomic context, tissue expression, mutations, and functional annotations from authoritative databases.
Gene Information Card
| Symbol | C22orf39 |
|---|---|
| Full Name | chromosome 22 open reading frame 39 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 339229 ncbi.nlm.nih.gov/gene/339229 |
| Ensembl ID | ENSG00000128298 |
| UniProt ID | Q6ZUT9 |
| OMIM ID | Not available |
| HGNC ID | 27035 |
| Aliases | MGC16169, FLJ32658 |
Description
C22orf39 is a protein-coding gene located on chromosome 22 at band q13.2. It encodes a protein of unknown function, with no well-characterized domains. The gene is expressed in various tissues, but its biological role remains largely uncharacterized. No disease associations have been firmly established, and it is not currently indexed in OMIM or ClinVar for pathogenic variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not established | No evidence from OMIM or ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 4.1 | Low |
| Adrenal gland | 3.8 | Low |
| Prostate | 3.5 | Low |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.1 | Moderate expression |
| HeLa | 4.8 | Low expression |
| K562 | 3.2 | Low expression |
| MCF7 | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not available | Not available | Not available |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Protein Summary
The C22orf39 protein is predicted to be a small, soluble protein with no known functional domains. Its subcellular localization and molecular function are unknown. It may be involved in cellular processes yet to be discovered, but no experimental evidence supports a specific role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C22orf39 Knockout HEK293 Cell Line | EDJ-KQ9205 | Human | 128977 | Details Get a Quote |
| C22orf39 Knockout A-549 Cell Line | EDJ-KQ35756 | Human | 128977 | Details Get a Quote |
| C22orf39 Knockout HCT 116 Cell Line | EDJ-KQ35757 | Human | 128977 | Details Get a Quote |
| C22orf39 Knockout HeLa Cell Line | EDJ-KQ35758 | Human | 128977 | Details Get a Quote |
