C6orf15 (Chromosome 6 Open Reading Frame 15): Gene, Function, and Clinical Significance
Comprehensive overview of the C6orf15 gene, including its genomic location, expression patterns, potential disease associations, and protein characteristics.
Gene Information Card
| Symbol | C6orf15 |
|---|---|
| Full Name | chromosome 6 open reading frame 15 |
| Gene Type | gene with protein product |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 29113 ncbi.nlm.nih.gov/gene/29113 |
| Ensembl ID | ENSG00000204542 |
| UniProt ID | Q6UXA7 |
| OMIM ID | 611401 |
| HGNC ID | HGNC:13927 |
| Aliases | STG |
Description
C6orf15 (chromosome 6 open reading frame 15) is a protein-coding gene located on the short arm of chromosome 6 at position 21.33 (6p21.33). This region is part of the major histocompatibility complex (MHC) class I region, which is rich in immune-related genes. The gene is also known by the alias STG. The protein product is predicted to be a small, secreted or membrane-associated protein, but its exact function remains largely uncharacterized. C6orf15 is expressed in various tissues, with notable expression in the skin, testis, and placenta. Research suggests potential involvement in immune responses and skin biology, but further studies are needed to elucidate its precise roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | Potential involvement in immune regulation; expression in skin suggests a role in inflammatory skin conditions. | Expression studies and genetic association studies (e.g., GWAS) have linked the MHC region to psoriasis, but specific evidence for C6orf15 is limited. |
| Cancer | Altered expression in certain tumors; possible role in tumor immunity or cell proliferation. | Expression data from cancer cell lines and tissues; functional studies are lacking. |
| Autoimmune diseases | Located in MHC region, which is associated with many autoimmune diseases; C6orf15 may contribute to susceptibility. | Genetic association studies of the MHC region; no direct functional evidence for C6orf15. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available | Predicted expression based on RNA-seq data; C6orf15 is expressed in skin. |
| Testis | Not available | Expression detected in testis. |
| Placenta | Not available | Expression detected in placenta. |
| Lung | Not available | Low expression. |
| Kidney | Not available | Low expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not available | Skin-derived cell line; expression may be relevant to skin biology. |
| A549 (lung carcinoma) | Not available | Expression detected. |
| HeLa (cervical carcinoma) | Not available | Expression detected. |
| MCF7 (breast carcinoma) | Not available | Expression detected. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1131017 | SNV (intronic) | Not available | Potential regulatory effect; associated with psoriasis in some studies. |
| rs1265181 | SNV (intronic) | Not available | Potential regulatory effect; associated with psoriasis in some studies. |
| rs2073048 | SNV (intronic) | Not available | Potential regulatory effect; associated with psoriasis in some studies. |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized for C6orf15.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for C6orf15.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for C6orf15.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not yet characterized | • Biological process: Not yet characterized |
| • Cellular component: Not yet characterized |
Protein Summary
The C6orf15 protein (UniProt Q6UXA7) is a small protein of unknown function. It is predicted to contain a signal peptide and a single transmembrane domain, suggesting it may be a membrane-bound or secreted protein. Its expression in skin and immune-related tissues hints at a possible role in immune responses or epidermal differentiation. However, experimental validation is required to confirm its subcellular localization and biological function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C6orf15 Knockout HEK293 Cell Line | EDJ-KQ8990 | Human | 29113 | Details Get a Quote |
| C6orf15 Knockout HeLa Cell Line | EDJ-KQ56098 | Human | 29113 | Details Get a Quote |
| C6orf15 Knockout A-549 Cell Line | EDJ-KQ64584 | Human | 29113 | Details Get a Quote |
| C6orf15 Knockout HCT 116 Cell Line | EDJ-KQ73038 | Human | 29113 | Details Get a Quote |
