ANK2
ANK2 (ankyrin 2) is a member of the ankyrin family that links integral membrane proteins to the underlying spectrin-actin cytoskeleton. It localises and stabilises ion transporters and channels in cardiomyocytes and other cells, and is also known as FAP87, CFAP87 and LQT4. Browse Assay Genie's current range of ANK2 research reagents below, or read on for the biology behind the target.
ANK2 plays an essential role in the localisation and membrane stabilisation of ion transporters and ion channels in several cell types, including cardiomyocytes and striated muscle cells. In cardiomyocytes it is required for the coordinated assembly of the Na/Ca exchanger SLC8A1/NCX1, the Na/K ATPases ATP1A1 and ATP1A2, and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum and sarcolemma sites. It is also needed for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for regulation of their contraction rate. In skeletal muscle, ANK2 is required for proper localisation of DMD and DCTN4 and for a specialised subset of microtubules associated with costameres and neuromuscular junctions. In rod photoreceptor inner segments it coordinates expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin.
Beyond muscle and retina, the ANK2 protein contributes to endocytosis and intracellular protein transport. It associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range cell motility. It recruits RABGAP1L to PI3P-positive early endosomes, where RABGAP1L inactivates RAB22A. The ANK2/RABGAP1L complex is required for polarised recycling of the fibronectin receptor ITGA5 ITGB1 to the plasma membrane, enabling continuous directional cell migration. Reported locations include the cytoskeleton, sarcomere M and Z lines, T-tubules, apical and postsynaptic membranes, endosomes, lysosomes and mitochondria.
Like most ankyrins, ANK2 has an amino-terminal domain of ankyrin repeats, a central spectrin-binding region and a variable carboxy-terminal regulatory domain. The ANK2 gene is a member of the ankyrin family, and multiple transcript variants encoding different isoforms have been described. Mutations in the gene cause long QT syndrome 4 and cardiac arrhythmia syndrome, which explains the earlier names long (electrocardiographic) QT syndrome 4 and ankyrin 2, neuronal.
ANK2 mutations cause long QT syndrome 4 and cardiac arrhythmia syndrome, making it a focus for studies of cardiac ion homeostasis.
ANK2 is required for assembly of NCX1, Na/K ATPases and InsP3 receptors at sarcoplasmic reticulum and sarcolemma sites.
In skeletal muscle ANK2 localises DMD and DCTN4 and supports microtubules associated with costameres and neuromuscular junctions.
The ANK2/RABGAP1L complex drives polarised recycling of ITGA5 ITGB1, enabling directional cell migration.
ANK2 links integral membrane proteins to the spectrin-actin cytoskeleton. It localises and stabilises ion transporters and channels in cardiomyocytes and striated muscle, supports endocytosis and protein transport, and, with RABGAP1L, enables polarised recycling of ITGA5 ITGB1 during directional cell migration.
ANK2 is also called ankyrin-2, ankyrin 2 neuronal, FAP87, CFAP87 and LQT4. The last alias reflects the previous name long (electrocardiographic) QT syndrome 4. NCBI Gene reports multiple transcript variants encoding different isoforms of the protein.
Mutations in the ANK2 gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. The mouse ortholog is Ank2. For cross-species work, check the datasheet of any product for its validated reactivity.
Other ankyrin repeat-containing proteins with research reagents at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q01484; product specifications from Assay Genie datasheets.