GENE REFERENCE / HGNC:12851

YWHAE

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon

protein-coding gene17p13.3Gene information

What does this gene do?

The YWHAE gene provides instructions for making the 14-3-3 epsilon protein, which is part of the large 14-3-3 protein family. Proteins in this family attach (bind) to other proteins that are involved in cell signaling. Proteins in the 14-3-3 family either turn on (activate) or turn off (inactivate) these other proteins. The 14-3-3 proteins are also involved in processes such as the self-destruction of cells when they are no longer needed (apoptosis), the production of energy within cells, and the movement (transport) of proteins within cells.

The 14-3-3 epsilon protein is active in tissues throughout the body, although research has focused on its role in the brain. In the brain, this protein helps direct the movement of nerve cells (neuronal migration) by binding to other proteins. It is thought that the 14-3-3 epsilon protein is critical for proper neuronal migration and normal brain development.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-03-24. Source review: 2024-11.

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: 263
Submissions for variants in or overlapping this gene: 339
Submissions explicitly reporting this gene: 168
Alleles reported pathogenic / likely pathogenic: 18
VariationIDs with uncertain significance: 49
VariationIDs with conflicting classifications: 0

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 YWHAE?

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 18 alleles in YWHAE 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 YWHAE.

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

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