Check out the September 2016, Volume #3, Issue #9 of our newsletter.
ANK2 (NM_001148.3) encodes ankyrin-2, also known as ankyrin-B. ANK2 is located at 4q25-q27 and is composed of 46 exons. The ankyrin family of proteins links integral membrane proteins to the underlying spectrin-actin cytoskeleton, and play a role in cytoskeletal signaling pathways and membrane protein trafficking and regulation. Ankyrin-2 has numerous splice isoforms that are expressed in brain, heart, skeletal muscle and thymus. In cardiomyocytes, ankyrin-2 can form a membrane protein complex including the Na/Ca exchanger, the Na+/K+ ATPase, and the inositol 1,4,5 trisphosphate receptor (Smith et al. Front Physiol. 2012;3:122). A mutation in ANK2 has been shown to segregate with disease in a large family with long QT syndrome (LQTS) (Mohler et al. Nature. 2003;421(6923):634-639), and alterations in this gene have also been linked to additional cases of LQTS and other arrhythmic conditions (Smith et al. Front Physiol. 2012;3:122).