Chromosome 22 open reading frame 15 (C22orf15)

Chromosome 22 open reading frame 15 (C22orf15) is a protein encoded by the C22orf15 gene on chromosome 22q11.23 in humans[1]. The protein is 148 amino acids long, has a molecular weight of 17 kDa, and is localized in both the cytoplasm and nucleus with some evidence for cytoplasmic predominance in certain cell types[1]. It is expressed at low levels across many human tissues but is highest in adrenal gland, salivary gland, trachea, heart, spinal cord, and skeletal muscle[1][6]. C22orf15 contains an interleukin 2 receptor subunit gamma (II2rg) domain (residues 2-102), which is important for receptors that regulate lymphocyte, T cell, B cell, and natural killer cell growth and function, suggesting it may play a role in immune system modulation[1]. However, its precise molecular and cellular function remains poorly characterized. Clinically, alterations in the C22orf15 gene, such as copy number loss, have been linked to chromosomal instability in aneuploid gastric cancer, and the gene is differentially expressed in breast cancer cells, especially in basal-like tumors with BRCA1 mutations[1][4]. C22orf15 variation has also been implicated in cardiac congenital defects like Tetralogy of Fallot, and copy-number variants can be observed in patients with intellectual disability and other neurodevelopmental phenotypes[1]. It is listed among novel protein biomarkers associated with atrial fibrillation risk[1]. There are no established drugs or therapeutic agents directly targeting C22orf15, nor are specific mechanisms of action or noted safety concerns available for targeting this protein. It is best classified as an uncharacterized or "other" protein, not currently a therapeutic target, but of emerging research interest due to its disease associations[1].

Other names

C22orf15N27C7-3FLJ36561Protein N27C7-3uncharacterized protein C22orf15protein N27C7-3