ankyrin 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedArrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPaediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownBrugada syndrome and cardiac sodium channel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCardiac arrhythmias - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCatecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+4 more panels — install the extension to see the full list inline on any page.
Romano-Ward syndrome
neurodevelopmental disorder
Prolonged QT interval
Abnormality of the cardiovascular system
complex neurodevelopmental disorder
hereditary disease
epilepsy
autism spectrum disorder
Brugada syndrome
myocardial ischemia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Ankyrin-2
Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed:12571597). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) (By similarity). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity)
Curated MONDO disease pages that list ANK2 among their top associated genes.
ANK2 · Q01484-2isoform
No predicted structure exists for the canonical Q01484 sequence; metrics below describe this isoform.
Mean pLDDT
70.2/ 100
Confident
1,872 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
