GENE REFERENCE / HGNC:6298

KCNQ4

potassium voltage-gated channel subfamily Q member 4

protein-coding gene1p34.2Gene information

What does this gene do?

The KCNQ4 gene provides instructions for making a protein that is part of a family of potassium channels. These channels transport positively charged potassium atoms (potassium ions) between neighboring cells. The channels play a key role in the ability of cells to generate and transmit electrical signals. The specific function of a potassium channel depends on its protein components and its location in the body. Potassium channels made with the KCNQ4 protein are found in certain cells of the inner ear and along part of the nerve pathway from the ear to the brain (the auditory pathway). To a lesser extent, KCNQ4 potassium channels are also found in the heart and some other muscles.

Because KCNQ4 potassium channels are present in the inner ear and auditory pathway, researchers have focused on their role in hearing. Hearing requires the conversion of sound waves to electrical nerve signals, which are then transmitted to the brain. This conversion involves many processes, including maintenance of the proper levels of potassium ions in the inner ear. KCNQ4 channels help to maintain these levels, playing a critical role in the efficient transmission of electrical nerve signals from the inner ear to the brain.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2016-01.

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
nonsyndromic genetic hearing lossMONDO:0019497 · Evaluated 2017-11-21	Autosomal dominant	DefinitiveHearing Loss 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: 575
Submissions for variants in or overlapping this gene: 983
Submissions explicitly reporting this gene: 941
Alleles reported pathogenic / likely pathogenic: 60
VariationIDs with uncertain significance: 275
VariationIDs with conflicting classifications: 30

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 KCNQ4?

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 60 alleles in KCNQ4 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 KCNQ4.

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

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