Chromosome 2 open reading frame 42 (C2orf42)

Chromosome 2 open reading frame 42 (C2orf42) encodes a protein of unknown specific function, located primarily in the nucleoplasm. Emerging research suggests context-dependent roles in human disease: - Suppression of C2orf42 in renal epithelial cells during oxygen and glucose deprivation improves cell survival and lessens cisplatin toxicity, indicating that the gene may contribute to cellular stress responses in kidney injury. - A rare clinical case identified an ALK–C2orf42 gene rearrangement in aggressive pediatric melanoma, suggesting a possible role in oncogenic transformation through altered transcriptional regulation. This implies that C2orf42 can be involved in disease processes when aberrantly regulated [1]. - The gene may also play a part in neuronal development, though data supporting this is presently hypothetical and unconfirmed [2]. No validated therapeutic targeting, molecular family classification, or clinical safety profile for C2orf42 currently exists. Its disease association is primarily reported through functional screens and rare fusion events, rather than direct pharmacological targeting [1][2][3].

Other names

C2orf42FLJ20558CB042_HUMANUncharacterized protein C2orf42

None established—no drugs known to target C2orf42