Chromosome 20 open reading frame 203 (C20orf203)

Chromosome 20 open reading frame 203 (C20orf203) is a human-specific protein encoded by the *C20orf203* gene and annotated as an “uncharacterized protein”. Evidence suggests it is formed de novo from non-coding DNA, with no clearly assigned functional protein domains or orthologs capable of coding for a protein in other species[1][6]. Its protein and mRNA are reported to be expressed mainly in human brain neurons, with increased expression observed in some Alzheimer’s disease samples, suggesting a possible disease association[1]. Genome-wide association data imply a variant (SNP rs17123507) in its 3' UTR may be associated with nicotine addiction[1]. The gene has also been identified as a hub in RNA networks related to diseases such as osteonecrosis of the femoral head, implying regulatory roles in gene expression, though these functions remain poorly defined[1]. There are currently no known small-molecule or biologic drugs targeting this protein, and it is not classified as a traditional therapeutic receptor, enzyme, transporter, or ion channel[1][5][6]. The molecular and cellular function of C20orf203 remains largely uncharacterized, with its classification currently best described as a novel, human-specific protein-coding gene with potential relevance in neurodegenerative and regulatory disease networks[1][3][5][6].

Other names

Chromosome 20 open reading frame 203FLJ33706uncharacterized protein C20orf203alugenC20orf203