Chromosome 13 open reading frame 42 (C13orf42)

Chromosome 13 open reading frame 42 (C13orf42) is a gene that encodes a predicted protein in humans, with some isoforms also producing long non-coding RNAs (LINC00371, LINC00372). The protein is predicted to localize to the nucleus, cytosol, mitochondria, and, to a much lesser extent, the endoplasmic reticulum. Expression is low across most human tissues. There are multiple transcript variants, but only some encode proteins. The protein is highly serine-, lysine-, and arginine-rich, with post-translational modification sites for phosphorylation and glycosylation. The gene has no known conserved domains and remains uncharacterized at the functional level, and its molecular or cellular role is unknown. There is very limited evidence linking C13orf42 to clinical significance: a chromosomal fusion of C13orf42 with ATM has been observed in a patient with chronic lymphocytic leukemia (possibly relevant for cancer biology), and one SNP in the gene is associated with facial shape variation. No drugs, validated disease mechanisms, or biomarker roles are known.

Other names

C13orf42LINC00371LINC00372chromosome 13 open reading frame 42long intergenic non-protein coding RNA 371long intergenic non-protein coding RNA 372uncharacterized protein C13orf42