ankyrin-2; brain ankyrin; ankyrin-B; non-erythroid ankyrin (ANK2)

Function

• attaches integral membrane proteins to cytoskeleton
• binds to cytoskeletal proteins
• required for coordinate assembly of Na+/Ca+2 exchanger, Na+/K+ ATPase & insP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes
• required for the coordinated expression of the Na+/K+ ATPase, Na+/Ca+2 exchanger & beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors
• required for expression & targeting of SPTBN1 in neonatal cardiomyocytes & for the regulation of neonatal cardiomyocyte contraction rate
• phosphorylated at multiple sites by different protein kinases & each phosphorylation event regulates the protein's structure & function (putative)
• interacts with RHBG & SPTBN1

Structure

• contains 24 ANK repeats
• contains 1 death domain
• contains 1 ZU5 domain

Compartment

• cytoplasm, cytoskeleton, membrane
• cytoplasm, myofibril, sarcomere, M-band (putative)
• apical cell membrane (putative)
• expressed at the apical membrane of airway lung epithelial cells
• localized to the plasma membrane of the inner segments of photoreceptors in retina
• colocalizes with SPTBN1 in a distict intracellular compartment of neonatal cardiomyocytes

Alternative splicing

named isoforms=6

Expression

• present in plasma membrane of neurons as well as glial cells throughout the brain
• expressed in fetal brain & in temporal cortex of adult brain
• also expressed in the inner segments of rod photoreceptors in retina

Pathology

• defects in ANK2 are the cause of long QT syndrome type 4

More general terms

• ankyrin

More specific terms

• ankyrin-B1
• ankyrin-B2

Database

• UniProt: http://www.uniprot.org/uniprot/Q01484.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=287
• OMIM: https://mirror.omim.org/entry/106410
• OMIM: https://mirror.omim.org/entry/600919