Chromosome 19 open reading frame 47 (C19orf47)

Chromosome 19 open reading frame 47 (C19orf47) is a human protein-coding gene that encodes a 422-amino acid protein, primarily located in the nucleoplasm and nucleus of the cell[1][5]. C19orf47 is broadly expressed in heart, testes, and other tissues[1]. It is uncharacterized in terms of defined biological function or molecular pathway and does not belong to classic protein families such as receptors, enzymes, transporters, or transcription factors[1][7][8]. C19orf47 is not established as a therapeutic or pharmacological target. It has predicted protein–protein interactions with molecules involved in RNA processing and export (such as DDX39B, NXF1, THOC2), and proto-oncogenes (for example, MYC)[1]. There is no evidence of direct disease association, drug interaction, or biomarker use. While a variant was found in one family affected by a rare neurological disorder (dystonia), C19orf47 is not regarded as pathogenic, and other genes were more likely causal[1]. The protein is conserved across a wide range of species but remains functionally uncharacterized[1][5][8].

Other names

Chromosome 19 Open Reading Frame 47FLJ36888DKFZp686P05129LOC126526CS047uncharacterized protein C19orf47