ANK3


ANK3

protein
Name = ANK3 ankyrin 3, node of Ranvier (ankyrin G)
caption =


width =
HGNCid = 494
Symbol = ANK3
AltSymbols = AnkyrinG
EntrezGene = 288
OMIM = 600465
RefSeq = NM_020987
UniProt = Q12955
PDB =
ECnumber =
Chromosome = 10
Arm = q
Band = 21
LocusSupplementaryData =

Ankyrin 3, node of Ranvier, also known as ANK3, is a human gene.cite web | title = Entrez Gene: ANK2 ankyrin 3, node of Ranvier | url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=288| accessdate = ] cite journal | author = Kapfhamer D, Miller DE, Lambert S, Bennett V, Glover TW, Burmeister M | title = Chromosomal localization of the ankyrinG gene (ANK3/Ank3) to human 10q21 and mouse 10 | journal = Genomics | volume = 27 | issue = 1 | pages = 189–91 | year = 1995 | month = May | pmid = 7665168 | doi = 10.1006/geno.1995.1023 | url = | issn = ]

Function

The protein encoded by this gene, Ankyrin 3 is an immunologically distinct gene product from ankyrins ANK1 and ANK2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Alternatively spliced variants may be expressed in other tissues. Although multiple transcript variants encoding several different isoforms have been found for this gene, the full-length nature of only two have been characterized.

Disease linkage

The ANK3 protein associates with the cardiac sodium channel Nav1.5 (gene|SCN5A). Both proteins are highly expressed at ventricular intercalated disc and T-tubule membranes in cardiomyocytes. A mutation in the Nav1.5 protein blocks interaction with ANK3 binding and therefore disrupts surface expression of Nav1.5 in cardiomyocytes resulting in Brugada syndrome, a type of cardiac arrhythmia.cite journal | author = Mohler PJ, Rivolta I, Napolitano C, LeMaillet G, Lambert S, Priori SG, Bennett V | title = Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 101 | issue = 50 | pages = 17533–8 | year = 2004 | month = December | pmid = 15579534 | pmc = 536011 | doi = 10.1073/pnas.0403711101 | url = | issn = ]

Other mutations in the ANK3 gene may be involved in the bipolar disorder.cite journal | author = Ferreira MA, O'Donovan MC, Meng YA, "et al" | title = Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder | journal = Nat. Genet. | volume = | issue = | pages = | year = 2008 | month = August | pmid = 18711365 | doi = 10.1038/ng.209 | url = | issn = ] cite web | url = http://www.schizophreniaforum.org/new/detail.asp?id=1450 | title = Channeling Mental Illness: GWAS Links Ion Channels, Bipolar Disorder | author = | authorlink = | coauthors = | date = 2008-08-19 | format = | work = Schizophrenia Research Forum: News | publisher = schizophreniaforum.org | pages = | language = | archiveurl = | archivedate = | quote = | accessdate = 2008-08-21]

Ankyrin family

The protein encoded by the ANK3 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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