Chromosome 19 open reading frame 18 (C19orf18)

Chromosome 19 open reading frame 18 encodes a protein of 215 amino acids, predicted to localize to the plasma membrane and Golgi apparatus, with a topology that includes an extracellular domain, transmembrane segment, and cytoplasmic tail. The gene is mammal-specific, ubiquitously expressed at moderate levels, and shows higher expression in reproductive, endocrine, and select visceral tissues (testis, prostate, pancreas, uterus, etc.). Its biological function remains not fully understood, though it interacts with several membrane and signaling proteins (NDFIP1, ACVR2A, BMPR1A, FGFR2, MFAP3, Syntaxin 6). C19orf18 may be involved in cellular homeostasis, protein trafficking, or cell signaling, as deduced from its interactome, but these roles are not definitively established. Clinically, C19orf18 is down-regulated in pancreatic cancer, and differential methylation/altered expression have been reported in ovarian cancer risk studies, teratozoospermia, polycystic ovary syndrome, and developmental delay (microcephaly, seizures). No structure has been determined and there are no known drugs or approved therapeutics that target C19orf18. It is considered an "uncharacterized" or "Tdark" protein due to limited functional annotation.

Other names

C19orf18uncharacterized protein C19orf18MGC41906LOC147685