ANKRD2
Description
The ANKRD2 (ankyrin repeat domain 2) is a protein-coding gene located on chromosome 10.
ANKRD2, also known as Ankyrin Repeat Domain-Containing Protein 2, belongs to the muscle ankyrin repeat proteins (MARP) family, alongside CARP and DARP. It is highly expressed in cardiac and skeletal muscle, as well as other tissues. ANKRD2's expression is altered in patients with dilated cardiomyopathy and amyotrophic lateral sclerosis, suggesting its involvement in these conditions. Additionally, ANKRD2 has been linked to tumor progression and metastasis.
Two isoforms of ANKRD2 exist: a 39.8 kDa protein (360 amino acids) and a 36.2 kDa protein (327 amino acids). The protein contains nine exons, with four encoding ankyrin repeats in the middle region. It also has a PEST-like and Lysine-rich sequence in the N-terminal region and a Proline-rich sequence with phosphorylation sites in the C-terminal region. ANKRD2 can potentially form homo- or heterodimers with other MARPs in an antiparallel manner.
ANKRD2 is primarily localized in nuclei and I-bands of slow skeletal fibers and cardiac muscle, particularly in ventricular regions at intercalated discs. Expression in brain, pancreas, and esophageal epithelium has also been documented. While both ANKRD2 and CARP share significant homology, their expression patterns in muscle cells differ significantly. CARP is expressed throughout atria and ventricles, in both development and adulthood. However, ANKRD2 is almost exclusively found in the ventricles and only in adult myocytes. It is interesting to note that ANKRD2 has also been found expressed in rhabdomyosarcomas, exhibiting a pattern distinct from actin and desmin.
ANKRD2 is also known as ARPP.
