GENE REFERENCE / HGNC:6283

KCNK9

potassium two pore domain channel subfamily K member 9

protein-coding gene8q24.3Gene information

What does this gene do?

The KCNK9 gene provides instructions for making a protein called TASK3, which functions as a potassium channel. Potassium channels transport positively charged atoms (ions) of potassium into and out of cells.

TASK3 channels are found throughout the body. They are especially abundant in nerve cells (neurons) in the brain, particularly the region of the brain that coordinates movement (cerebellum). The flow of ions through potassium channels in neurons is involved in activating (exciting) the neurons and sending electrical signals in the brain. Unlike some potassium channels that open and close in response to certain triggers, TASK3 channels are always open, although their activity can be controlled by the environment surrounding the cell. Because the channels are always open, they are often called background or leak channels. TASK3 channels maintain the cell's ability to generate electrical signals and regulate the activity (excitability) of cells. These channels also appear to play a role in the movement (migration) of certain neurons in the brain.

People inherit two copies of their genes, one from their mother and one from their father. Usually both copies of each gene are active, or "turned on," in cells. For some genes, however, only one of the two copies is normally turned on. Which copy is active depends on the parent of origin: some genes are normally active only when they are inherited from a person's father; others are active only when inherited from a person's mother. This phenomenon is known as genomic imprinting. The KCNK9 gene is a maternally expressed imprinted gene, which means that only the copy of the gene that comes from the mother is active. The copy of the gene that comes from the father is turned off (silenced).

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-06.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

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: 154
Submissions for variants in or overlapping this gene: 193
Submissions explicitly reporting this gene: 130
Alleles reported pathogenic / likely pathogenic: 8
VariationIDs with uncertain significance: 62
VariationIDs with conflicting classifications: 2

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 KCNK9?

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 8 alleles in KCNK9 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 KCNK9.

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

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