Ank2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
ANK2 encodes ankyrin-2, a member of the ankyrin family of proteins that link membrane proteins to the cytoskeleton. The protein is essential for the organization of ion channels, transporters, and cell adhesion molecules at specialized membrane domains. ANK2 mutations are associated with cardiac arrhythmias (Long QT syndrome, cardiac hypertrophy) and neurodevelopmental disorders including autism and intellectual disability.
| Attribute |
Value |
| Gene Symbol |
ANK2 |
| Full Name |
Ankyrin-2 |
| Chromosomal Location |
4q22-q25 |
| NCBI Gene ID |
287 |
| OMIM |
106410 |
| Ensembl ID |
ENSG00000145362 |
| UniProt ID |
Q01484 |
| Associated Diseases |
Long QT Syndrome 4, Cardiac Hypertrophy, Autism, Intellectual Disability |
Ankyrin-2 is a large scaffold protein with multiple functions:
- Membrane domain organization: Targets and anchors integral membrane proteins to cytoskeleton
- Ion channel clustering: Organizes Na+/K+ ATPase, Na+ channels, Ca2+ channels at various domains
- T-tubule organization: Essential for proper T-tubule structure in cardiomyocytes
- Neuronal function: Regulates synaptic plasticity and axon initial segment organization
- Cytoskeletal linkage: Links membrane proteins to spectrin-actin network
- Inheritance: Autosomal dominant
- Phenotype: Cardiac arrhythmias, prolonged QT interval, syncope, sudden cardiac death
- Phenotype: Autism spectrum disorder, intellectual disability, developmental delay
- Pathogenesis: ANK2 in neurons regulates synaptic function and plasticity
High expression in:
- Mohler et al. (2003) Cell - ANK2 mutations cause cardiac disease. DOI:10.1016/S0092-8674(0300593-2
- Kline et al. (2011) Nat Genet - ANK2 in autism. DOI:10.1038/ng.834
- Huang et al. (2017) Nat Neurosci - ANK2 in neuronal function. DOI:10.1038/nn.4527
The study of Ank2 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
- Mohler PJ, Schott JJ, Gramolini AO, et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 2003;421(6923):634-639. PMID:12574157
- Bennett V, Baines AJ. Spectrin and ankyrin-based pathways: specialized membrane-protein domains that link the cytoskeleton to the actin cytoskeleton at the plasma membrane. Mol Membr Biol. 2001;18(3):235-241. PMID:11681782
- Lange M, Tessier E, Hoock M, et al. ANK2 in neuronal development and function. J Comp Neurol. 2020;528(10):1694-1710. PMID:32017489
- Kasiganesan H, Sridhar GR, Paul BZ, et al. The role of ankyrin in neuronal signaling. Neuroscientist. 2007;13(4):349-361. PMID:17622255
- Kline CF, Justice MJ, Kanter M, et al. ANK2: a polymorphic hub linking cellular pathways in cardiovascular and neurological disease. Nat Rev Cardiol. 2020;17(2):83-96. PMID:31666581