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GeneQ4033031· pop 7· linked from 277 articles

Also known as ANK-2, LQT4, brank-2, ankyrin 2, neuronal, ankyrin 2

gene umano

Gene data

ANK2
Name
ankyrin 2
Type
protein-coding
Aliases
ANK-2, CFAP87, FAP87, LQT4, brank-2

This gene encodes 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. 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 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011].

via MyGene.info

Gene · Ensembl

ankyrin 2

Symbol
ANK2
Biotype
Protein coding
Organism
Homo sapiens
Location
4:112,818,032-113,384,237
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Image
ANK2 prot.png
Show 5 more facts
HomoloGene ID
81655
genetic association
Romano–Ward syndrome
found in taxon
Homo sapiens
Sources (4)

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