Dpy-19-like protein 2 pseudogene 2 (DPY19L2P2)

DPY19L2 pseudogene 2 (DPY19L2P2) is a nonfunctional, duplicated genomic copy of the DPY19L2 gene found in low copy repeats (LCRs) on human chromosome 7 (LCR7D). Unlike its functional paralogue DPY19L2, which encodes a transmembrane protein involved in sperm head elongation and acrosome formation, DPY19L2P2 contains premature stop codons and other inactivating mutations and thus does not produce a functional protein. The gene is transcribed in several tissues (notably fibroblast, lung, lymphoblast, spleen, and testis), but this RNA is not believed to be translated or to have functional relevance. The presence of DPY19L2P2 reflects ongoing genomic evolution but the pseudogene itself has no established roles in physiology or disease, and is not the basis for any known therapeutic intervention. DPY19L2P2 is one of several pseudogenes arising from recent segmental duplication of the DPY19L2 region. It shares high sequence similarity with DPY19L2, resulting in occasionally confounding expression data in tissues, but it has no protein-coding potential or known physiological or therapeutic significance. Functional DPY19L2 is important in the development of sperm and when mutated causes globozoospermia, but DPY19L2P2 does not participate in these processes. No drugs, disease roles, or clinical biomarkers have been described for this pseudogene.

Other names

DPY19L2 pseudogene 2dpy-19-like protein 2 pseudogene 2DPY19L2P2Protein dpy-19 homolog 2-like 2Putative C-mannosyltransferase DPY19L2P2dpy-19-like 2 pseudogene 2