C9orf140 (chromosome 9 open reading frame 140), also known as TS/MDEP (tumor specificity and mitosis phase-dependent expression protein) or p42.3, is a 394 amino acid nuclear and cytoplasmic protein encoded by a gene that maps to human chromosome 9q34.3. Chromosome 9 consists of about 145 million bases, represents 4 % of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
Synonyms: 2010317E24Rik, C9orf140, Chromosome 9 open reading frame 140, SAPC2_HUMAN, p42.3, Protein C9orf140, SAPCD2, Suppressor APC domain containing 2, Suppressor APC domain containing protein 2, TS/MDEP, Tumor specicity and mitosis phase-dependent expression protein.