Description
Background: TET2 (Tet oncogene family member 2), also known as KIAA1546, is a 2,002 amino acid protein that is expressed in a variety of tissues, including brain, kidney, heart, lung, muscle and stomach, and exists as three alternatively spliced isoforms. Murine TET2 is also known as protein Ayu17-449 and is thought to play a role in proper kidney development and overall kidney function, as well as in hormone secretion throughout the body. The gene encoding human TET2 maps to chromosome 4 and the gene encoding mouse TET2 maps to chromosome 3. Chromosome 4 encodes nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Murine chromosome 3 houses over 1,300 genes, some of which express alcohol dehydrogenases (ADHs), sodium channel modifiers (SCNMs), interleukins (ILs) and Insulin receptor-related (IRR) proteins. Defects in chromosome 3-localized genes are associated with hereditary congenital facial paresis (HCFP), increased susceptibility to spontaneous colitis, HIV-1-associated nephropathy, decreased renal vascular health and malignant sporadic pancreatic endocrine tumors