Gene: ANK2
Alternate names for this Gene: ANK-2|CFAP87|FAP87|LQT4|brank-2
Gene Summary: 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.
Gene is located in Chromosome: 4
Location in Chromosome : 4q25-q26
Description of this Gene: ankyrin 2
Type of Gene: protein-coding
rs17045918 in
ANK2 gene and
Adolescent idiopathic scoliosis
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs121912705 in
ANK2 gene and
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
PMID 12571597 2003 Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death.
PMID 15178757 2004 A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.
PMID 17940615 2007 Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.
PMID 27784853 2016 Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes.
PMID 28736713 2017 A subtype of idiopathic ventricular fibrillation and its relevance to catheter ablation and genetic variants.
PMID 16864073 2006 Analysis of ankyrin-B gene mutations in patients with long QT syndrome.
rs34311906 in
ANK2 gene and
Cerebrovascular accident
PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
rs121912706 in
ANK2 gene and
Death in infancy
PMID 27435932 2016 Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
rs29356 in
ANK2 gene and
Diastolic blood pressure
PMID 31469255 2019 A genome-wide association and replication study of blood pressure in Ugandan early adolescents.
rs34311906 in
ANK2 gene and
Ischemic stroke
PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
rs10011263 in
ANK2 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs17045918 in
ANK2 gene and
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs41496644 in
ANK2 gene and
Venous Thromboembolism
PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.