GENE REFERENCE / HGNC:9217

POU3F4

POU class 3 homeobox 4

protein-coding geneXq21.1Gene information

What does this gene do?

The POU3F4 gene provides instructions for making a protein that helps regulate the activity of other genes. Based on this role, the protein is called a transcription factor. The POU3F4 gene is part of a larger family of transcription factor genes called POU domain genes. These genes play a role in determining cell types in the brain and spinal cord (the central nervous system) during early development. The proteins produced from genes in the POU domain family each include two regions, called the POU-specific domain and POU homeodomain, that bind to the DNA of other genes.

The POU3F4 protein is likely to be involved in the development of the middle and inner ear, and it is also active in certain regions of the brain before birth. Researchers are working to determine which genes are regulated by this protein.

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 2018-01-05	X-linked	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: 388
Submissions for variants in or overlapping this gene: 467
Submissions explicitly reporting this gene: 294
Alleles reported pathogenic / likely pathogenic: 121
VariationIDs with uncertain significance: 74
VariationIDs with conflicting classifications: 8

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 POU3F4?

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 121 alleles in POU3F4 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 POU3F4.

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

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