ANK2, ankyrin 2, or neuronal ankyrin, ( English ankyrin 2, neuronal; ankyrin-B ) is an adapter protein from the ankyrin family, encoded by the ANK2 human gene.
| ANK2 | |
|---|---|
| Designations | |
| Characters | ANK2 ; LQT4 |
| Entrez gene | 287 |
| Hgnc | 493 |
| Omim | 106410 |
| Refseq | NM_001148 |
| Uniprot | Q01484 |
| Other data | |
| Locus | 4th hr. , 4q25 -q26 |
Content
Structure
Large protein, consists of 3957 amino acids . It includes 24 ankyrin repeats, which form a structure resembling a solenoid and provide binding of ANK2 to spectrin , 2 ZU5 domains, 2 death domains, 15 A repeats, UPA domain. [one]
Function
ANK2 is a cytosolic protein in muscle cells necessary for the proper positioning of DMD and DCTN4 and for the formation and / or stabilization of a special subgroup of microtubules associated with costameras and neuromuscular synapses . Provides a link between integral membrane proteins and the cell cytoskeleton . In cardiomyocytes, it coordinates the assembly of the Na / Ca antiport, Na / K ATPase and inositol triphosphate receptor on the sarcoplasmic reticulum. Needed for coordinated expression of Na / K ATPase , Na / Ca antiport, and beta-2 spectrin ( SPTBN1 ) on the inner segment of rod photoreceptors in the retina.
Tissue specificity
Ankirin 2 is expressed in neurons and glial cells of the brain, in the temporal lobe of the cerebral cortex in the inner segments of the photoreceptor rod cells of the retina.
In pathology
Mutations in the ANK2 gene result in long QT syndrome caused by delayed repolarization of cardiomyocytes.
See also
- Ankirins
Notes
- β uniprot Q01484
Bibliography
- Hashemi SM, Hund TJ, Mohler PJ Cardiac ankyrins in health and disease (Eng.) // Journal of Molecular and Cellular Cardiology : journal. - 2009 .-- August ( vol. 47 , no. 2 ). - P. 203-209 . - DOI : 10.1016 / j.yjmcc.2009.04.010 . - PMID 19394342 .
- Mohler PJ Ankyrins and human disease: what the electrophysiologist should know (Eng.) // Journal of Cardiovascular Electrophysiology : journal. - 2006 .-- October ( vol. 17 , no. 10 ). - P. 1153-1159 . - DOI : 10.1111 / j.1540-8167.2006.00540.x . - PMID 16800854 .
- Bennett V., Lambert S. Physiological roles of axonal ankyrins in survival of premyelinated axons and localization of voltage-gated sodium channels (Eng.) // J. Neurocytol. : journal. - 1999. - Vol. 28 , no. 4-5 . - P. 303-318 . - PMID 10739573 .