C9orf5, TM245_HUMAN, Protein CG-2, Transmembrane protein C9orf5,
C9orf5 (chromosome 9 open reading frame 5), also known as CG2, is a 911 amino acid multi-pass membrane protein that is widely expressed and exists as four alternatively spliced isoforms. The gene encoding C9orf5 maps to human chromosome 9, which consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Considered 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.
