ANK2
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | ankyrin 2, neuronal |
| EntrezGene | 287 |
| PheGenI | 287 |
| VariationViewer | 287 |
| ClinVar | ANK2 |
| GeneCards | ANK2 |
| dbSNP | 287 |
| Diseases | ANK2 |
| SADR | 287 |
| HugeNav | 287 |
| wikipedia | ANK2 |
| ANK2 | |
| gopubmed | ANK2 |
| EVS | ANK2 |
| HEFalMp | ANK2 |
| MyGene2 | ANK2 |
| 23andMe | ANK2 |
| UniProt | Q01484 |
| Ensembl | ENSG00000145362 |
| OMIM | 106410 |
| # SNPs | 35 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs10014072 | 0 | 113,027,634 | |
| rs11098171 | 0 | 112,789,017 | |
| rs121912705 | 0 | 113,367,764 | |
| rs121912706 | 0 | 113,373,306 | |
| rs12500579 | 0 | 112,934,321 | |
| rs142534126 | 0 | 113,345,961 | |
| rs143228029 | 0 | 113,365,050 | |
| rs148654834 | 0 | 113,369,711 | |
| rs180843436 | 0 | 113,360,849 | |
| rs193922637 | 0 | 113,356,784 | |
| rs199473343 | 0 | 113,353,581 | |
| rs199473346 | 0 | 113,363,439 | |
| rs199473347 | 0 | 113,367,619 | |
| rs199473643 | 0 | 113,369,726 | |
| rs35530544 | 0 | 113,367,751 | |
| rs36210415 | 0 | 113,264,933 | |
| rs36210416 | 0 | 113,287,647 | |
| rs45454496 | 1 | 113,373,381 | |
| rs45570339 | 0 | 113,363,442 | |
| rs534934297 | 0 | 113,356,942 | |
| rs66785829 | 0 | 113,365,051 | |
| rs66785830 | 0 | 113,365,051 | |
| rs6850768 | 0 | 112,797,744 | |
| rs72544141 | 0 | 113,348,277 | |
| rs72556370 | 0 | 113,373,162 | |
| rs752704424 | 0 | 113,355,873 | |
| rs755287627 | 0 | 113,353,494 | |
| rs761413864 | 0 | 113,282,867 | |
| rs7694725 | 0 | 113,079,800 | |
| rs786205420 | 0 | 113,293,537 | |
| rs786205571 | 0 | 113,356,462 | |
| rs786205724 | 0 | 113,282,730 | |
| rs796052197 | 0 | 113,354,767 | |
| rs796052198 | 0 | 113,356,741 | |
| rs9307389 | 0 | 113,330,594 |
Ankyrin-B, also known as Ankyrin-2, is a protein which in humans is encoded by the ANK2 gene. The Ankyrin-B protein is ubiquitously expressed, but shows high expression in cardiac muscle.Wikipedia
Mutations in ankyrin-B cause a dominantly-inherited, cardiac arrhythmia syndrome known as Ankyrin-B syndrome as well as Sick sinus syndrome; mutations have also been associated to a lesser degree with hypertrophic cardiomyopathy.
However, be aware that many of the ANK2 variants have "conflicting interpretations" of pathogenicity in ClinVar, in other words, different groups have different beliefs about how associated these variants are to various disorders.
