GENE REFERENCE / HGNC:493

ANK2

ankyrin 2

protein-coding gene4q25-q26Gene information

What does this gene do?

The ANK2 gene provides instructions for making a protein called ankyrin-B. Ankyrin-B is part of a family of ankyrin proteins, which interact with many other types of proteins in cells throughout the body. Ankyrins help organize the cell's structural framework (the cytoskeleton) and link certain proteins that span the cell membrane to this framework. Additionally, ankyrins play key roles in important functions including cell movement (migration) and cell growth and division (proliferation).

The ankyrin-B protein is active in many cell types, particularly in the brain and in heart (cardiac) muscle. This protein mainly interacts with ion channels and ion transporters, which are complexes of proteins that move charged atoms (ions) across cell membranes. In the heart, the flow of ions (such as sodium, potassium, and calcium) through ion channels and ion transporters generates the electrical signals that control the heartbeat and maintain a normal heart rhythm. Ankyrin-B ensures these channels and transporters are in their proper locations in the cell membrane so they can regulate the flow of ions into and out of cardiac muscle cells. In addition, ankyrin-B helps ensure that signaling molecules that regulate the activity of ion channels and ion transporters are in the proper location.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-03.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Brugada syndromeMONDO:0015263 · Evaluated 2017-11-21	Autosomal dominant	DisputedBrugada Syndrome Gene Curation Expert Panel
complex neurodevelopmental disorderMONDO:0100038 · Evaluated 2020-10-21	Autosomal dominant	DefinitiveIntellectual Disability and Autism Gene Curation Expert Panel
catecholaminergic polymorphic ventricular tachycardiaMONDO:0017990 · Evaluated 2021-01-20	Autosomal dominant	DisputedCatecholaminergic Polymorphic Ventricular Tachycardia Gene Curation Expert Panel
long QT syndromeMONDO:0002442 · Evaluated 2020-12-15	Autosomal dominant	DisputedLong QT syndrome Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 4,414
Submissions for variants in or overlapping this gene: 8,210
Submissions explicitly reporting this gene: 8,102
Alleles reported pathogenic / likely pathogenic: 98
VariationIDs with uncertain significance: 2,248
VariationIDs with conflicting classifications: 384

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ANK2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 98 alleles in ANK2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ANK2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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