ANK2 Chromosome 4
Ankyrin 2
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 |
|---|---|---|---|
| RS2153573358 | Health Risk | Likely pathogenic | — |
| RS2154019523 | Health Risk | Likely pathogenic | — |
| RS2154369391 | Health Risk | Likely pathogenic | — |
| RS2484401756 | Health Risk | Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS2495912386 | Health Risk | Likely pathogenic | — |
| RS2502464213 | Health Risk | Likely pathogenic | — |
| RS2504036153 | Health Risk | Likely pathogenic | Complex neurodevelopmental disorder, Complex neurodevelopmental disorder |
| RS2505509206 | Health Risk | Likely pathogenic | ANK2-related disorder, ANK2-related disorder |
| RS755287627 | Health Risk | Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS763130672 | Health Risk | Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS786205571 | Health Risk | Likely pathogenic | — |
| RS796052197 | Health Risk | Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS796052198 | Health Risk | Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS864622760 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1564067737 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS2095919119 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS2153942439 | Health Risk | Pathogenic | ANK2-associated Neurodevelopmental Disorder, Cardiac arrhythmia, ankyrin-B-related |
| RS2154031263 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS2154066387 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2492660352 | Health Risk | Pathogenic | — |
| RS2497089116 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2502136452 | Health Risk | Pathogenic | — |
| RS2502650416 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2505926865 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2505931124 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS2505933210 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2505994536 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS2506612939 | Health Risk | Pathogenic | ANK2-associated Neurodevelopmental Disorder, ANK2-associated Neurodevelopmental Disorder |
| RS2508495239 | Health Risk | Pathogenic | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS750143580 | Health Risk | Pathogenic | — |
| RS867072234 | Health Risk | Pathogenic | — |
| RS1298807209 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1588354762 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2092061253 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Cardiac arrhythmia, ankyrin-B-related |
| RS768327292 | Health Risk | Pathogenic/Likely pathogenic | Cardiac arrhythmia, ankyrin-B-related, Cardiovascular phenotype |