Ankyrin-2

ANK2
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesANK2, ANK-2, LQT4, brank-2, ankyrin 2, neuronal, ankyrin 2
External IDsOMIM: 106410; HomoloGene: 81655; GeneCards: ANK2; OMA:ANK2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001127493
NM_001148
NM_020977

n/a

RefSeq (protein)

n/a

Location (UCSC)n/an/a
PubMed search[1]n/a
Wikidata
View/Edit Human

Ankyrin-2, also known as Ankyrin-B, and Brain ankyrin, is a protein which in humans is encoded by the ANK2 gene.[2][3] Ankyrin-2 is ubiquitously expressed, but shows high expression in cardiac muscle. Ankyrin-2 plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in cardiomyocytes, as well as in costamere structures. Mutations in ANK2 cause a dominantly-inherited, cardiac arrhythmia syndrome known as long QT syndrome 4[4] as well as sick sinus syndrome; mutations have also been associated to a lesser degree with hypertrophic cardiomyopathy. Alterations in ankyrin-2 expression levels are observed in human heart failure.

  1. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  2. ^ "Entrez Gene: ANK2 ankyrin 2, neuronal".
  3. ^ Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP, et al. (November 1995). "Mapping of a gene for long QT syndrome to chromosome 4q25-27". Am. J. Hum. Genet. 57 (5): 1114–22. PMC 1801360. PMID 7485162.
  4. ^ "ANK2 ankyrin 2 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 7 March 2022.