Chromosome 20 open reading frame 96 (C20orf96)

Chromosome 20 open reading frame 96 (C20orf96) encodes an uncharacterized protein in humans, with the gene located on chromosome 20 (location: 20p13, reverse strand)[3]. The gene has several transcript splice variants, translating into proteins of various lengths (256–363 amino acids)[3]. Despite bioinformatic and transcriptomic analyses suggesting potential roles in brain evolution and tumor biology, no direct biological function or molecular mechanism has been fully established[1]. Particularly, mutations in C20orf96 have been identified in plasma cell-free DNA of neuroblastoma patients undergoing chemotherapy, where their presence correlates with disease status, making C20orf96 a proposed biomarker for this cancer subtype[1]. The gene is not currently established as a therapeutic target (receptor, enzyme, transporter, etc.), and its molecular classification remains as “other” until functional studies clarify its activities. No drugs are known to act on C20orf96, and no specific safety concerns or mechanisms of action are described in the literature to date. The protein’s tissue expression or possible physiological functions remain largely unknown, and no established disease causation (apart from its putative biomarker utility) has been described[1][3].

Other names

dJ1103G7.2CT096_HUMAN