LongevityMap Gene

Gene details

HGNC symbol
ANK2 
Aliases
LQT4; ANK-2; brank-2 
Common name
ankyrin 2 
Description
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]
Cytogenetic Location
4q25-q26
UCSC Genome Browser
View 4q25-q26 on the UCSC genome browser
OMIM
106410
Ensembl
ENSG00000145362
UniProt/Swiss-Prot
A0A024RDI4_HUMAN
Entrez Gene
287
UniGene
620557
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
CR388002.1
Mus musculus
Ank2
Rattus norvegicus
Ank2

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
American, English, Irish
Study Design
10 late-onset Alzheimer's disease genes were tested for association with human aging in the dataset (1385 samples with documented age at death, age range: 58–108 years; mean age at death: 80.2 years) using the most significant SNPs found in the previous studies. A set of 41 tentative SNPs span the genome were identified in this study.
Conclusions
Some signals were at best tentative but may merit study in larger sample sets
Indentifier
rs17618813
Reference