GENE REFERENCE / HGNC:6263

KCNJ2

potassium inwardly rectifying channel subfamily J member 2

protein-coding gene17q24.3Gene information

What does this gene do?

The KCNJ2 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged potassium ions out of cells, play key roles in a cell's ability to generate and transmit electrical signals.

The specific function of a potassium channel depends on its protein components and its location in the body. Channels made with the KCNJ2 protein are active in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. In skeletal muscle, these channels play an important role in the pattern of muscle tensing (contraction) and relaxation that allows the body to move. In the heart, the channels are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. Channels formed with the KCNJ2 protein may also be involved in bone development, but their role in this process is unclear.

Researchers have determined that a molecule called PIP2 must attach (bind) to channels made with the KCNJ2 protein for the channels to function normally. PIP2 activates the ion channel and helps it stay open, which allows ions to flow across the cell membrane.

Source: MedlinePlus, National Library of Medicine. Source publication: 2022-06-27. Source review: 2018-04.

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
congenital heart diseaseMONDO:0005453 · Evaluated 2024-10-15	Not specified (UD)	No Known Disease RelationshipCongenital Heart Disease Gene Curation Expert Panel
long QT syndromeMONDO:0002442 · Evaluated 2020-12-15	Autosomal dominant	LimitedLong QT syndrome Gene Curation Expert Panel
short QT syndromeMONDO:0000453 · Evaluated 2020-10-27	Autosomal dominant	ModerateShort QT syndrome Gene Curation Expert Panel
catecholaminergic polymorphic ventricular tachycardiaMONDO:0017990 · Evaluated 2021-01-20	Autosomal dominant	DisputedCatecholaminergic Polymorphic Ventricular Tachycardia 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: 714
Submissions for variants in or overlapping this gene: 1,507
Submissions explicitly reporting this gene: 1,475
Alleles reported pathogenic / likely pathogenic: 67
VariationIDs with uncertain significance: 343
VariationIDs with conflicting classifications: 67

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 KCNJ2?

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 67 alleles in KCNJ2 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 KCNJ2.

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

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