The ANK2 gene homepage
| General information |
| Gene symbol |
ANK2 |
| Gene name |
ankyrin 2, neuronal |
| Chromosome |
4 |
| Chromosomal band |
q25-q26 |
| Imprinted |
- |
| Genomic reference |
NG_009006.2 |
| Transcript reference |
NM_001127493.1 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
73 |
| Unique public DNA variants reported |
59 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: LQT4; ANK-2; brank-2 |
| Date created |
April 14, 2013 |
Active transcripts
| Copyright & disclaimer |
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