ANK2


ANK2

protein
Name = ANK2, ankyrinB
caption =


width =
HGNCid = 493
Symbol = ANK2
AltSymbols = AnkyrinB
EntrezGene = 287
OMIM = 106410
RefSeq = NM_001148
UniProt = Q01484
PDB =
ECnumber =
Chromosome = 4
Arm = q
Band = 25
LocusSupplementaryData = -q27

Ankyrin 2, neuronal, also known as ANK2, is a human gene.cite web | title = Entrez Gene: ANK2 ankyrin 2, neuronal | url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=287| accessdate = ] cite journal | author = Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP, "et al" | title = Mapping of a gene for long QT syndrome to chromosome 4q25-27 | journal = Am. J. Hum. Genet. | volume = 57 | issue = 5 | pages = 1114–22 | year = 1995 | month = November | pmid = 7485162 | pmc = 1801360 | doi = | url = | issn = ]

Function

The protein encoded by this gene is required for targeting and stability of Na+/Ca++ exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4.cite journal | author = Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogné K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V | title = Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death | journal = Nature | volume = 421 | issue = 6923 | pages = 634–9 | year = 2003 | month = February | pmid = 12571597 | doi = 10.1038/nature01335 | url = | issn = ] Multiple transcript variants encoding different isoforms have been described.

Ankyrin family

The protein encoded by the ANK2 gene is a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation.

References

External links

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