Have questions? Visit https://www.reddit.com/r/SNPedia

ANK2

From SNPedia

is agene
is mentioned by
Full nameankyrin 2, neuronal
EntrezGene287
PheGenI287
VariationViewer287
ClinVarANK2
GeneCardsANK2
dbSNP287
SADR287
HugeNav287
wikipediaANK2
googleANK2
gopubmedANK2
EVSANK2
HEFalMpANK2
MyGene2ANK2
23andMeANK2
UniProtQ01484
EnsemblENSG00000145362
OMIM106410
# SNPs34
 Max MagnitudeChromosome positionSummary
rs10014072113,027,634
rs1219127050113,367,764
rs1219127060113,373,306
rs12500579112,934,321
rs1425341260113,345,961
rs1432280290113,365,050
rs1486548340113,369,711
rs1808434360113,360,849
rs1939226370113,356,784
rs1994733430113,353,581
rs1994733460113,363,439
rs1994733470113,367,619
rs1994736430113,369,726
rs355305440113,367,751
rs362104150113,264,933
rs362104160113,287,647
rs454544960113,373,381
rs455703390113,363,442
rs5349342970113,356,942
rs667858290113,365,051
rs66785830113,365,051
rs725441410113,348,277
rs725563700113,373,162
rs7527044240113,355,873
rs7552876270113,353,494
rs7614138640113,282,867
rs7694725113,079,800
rs7862054200113,293,537
rs7862055710113,356,462
rs7862057240113,282,730
rs7960521970113,354,767
rs7960521980113,356,741
rs9307389113,330,594

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.