ANK2 Chromosome 4

Ankyrin 2
385 variants 385 Health Risk

Upload your DNA to see your personal genotypes for variants in ANK2.

What This Gene Does
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]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Cilia and flagella associated|MicroRNA protein coding host genes|ZU5 domain containing "
Locus Type
gene with protein product
Location
4q25-q26
Ensembl
ENSG00000145362
Associated Conditions (30)
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
ankyrin-B-related
Long QT syndrome 4
Death in infancy
Cardiomyopathy
ANK2-related disorder
Hypertrophic cardiomyopathy
Brugada syndrome
Sudden cardiac arrest
See cases
Congenital long QT syndrome
Meniere disease
Intellectual disability
Cardiac arrest
Primary dilated cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Supraventricular tachycardia
Conduction disorder of the heart
+10 more conditions
Key Variants
RS1033059668
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1050108506
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia
Health Risk
RS1054393061
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS1057522286
Conflicting classifications of pathogenicity
Health Risk
RS1057524171
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1060501160
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1060501164
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1060504154
Conflicting classifications of pathogenicity
Cardiac arrhythmia, ankyrin-B-related, Long QT syndrome
Health Risk
RS116253689
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia
Health Risk
RS1162544118
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS1168752344
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1194139877
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
All Variants (385)
RSID Category Clinical Significance Conditions
RS1033059668 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1050108506 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia
RS1054393061 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1057522286 Health Risk Conflicting classifications of pathogenicity —
RS1057524171 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1060501160 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1060501164 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1060504154 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related, Long QT syndrome
RS116253689 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia
RS1162544118 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1168752344 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1194139877 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1209343108 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1214453791 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS121912705 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related, Long QT syndrome
RS121912706 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 4, Death in infancy, Cardiovascular phenotype
RS1275616940 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1276641904 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1282117438 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ANK2-related disorder, Cardiovascular phenotype
RS1298469624 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1306812632 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Long QT syndrome, Cardiovascular phenotype
RS1333983188 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1334157294 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related, Long QT syndrome
RS1350377647 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related, Cardiovascular phenotype
RS138438183 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia
RS1385620748 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1386325913 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1387199656 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1389133986 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS138928206 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia
RS139007578 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS139197937 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiac arrhythmia
RS139199018 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related, Long QT syndrome
RS139616911 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS140042254 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS140189724 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiac arrhythmia
RS140254310 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related, Long QT syndrome
RS1403186964 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Brugada syndrome
RS140341680 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia
RS1403863523 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related, Cardiovascular phenotype
RS1404545085 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS140462708 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS140539843 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Sudden cardiac arrest, See cases
RS140604600 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia, ankyrin-B-related
RS140606121 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS140761981 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related, Long QT syndrome
RS141013157 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia, ankyrin-B-related
RS141191319 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia, ankyrin-B-related
RS141212932 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia, ankyrin-B-related
RS1419902437 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
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