GENE REFERENCE / HGNC:19687

EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4

protein-coding gene15q15.1Gene information

What does this gene do?

The EIF2AK4 gene provides instructions for making a protein that helps direct a cell's response to changes that could damage the cell. This protein is found in several tissues throughout the body, including blood vessel walls. The EIF2AK4 protein can turn on (activate) another protein called eIF2 alpha (eIF2α), which helps control protein production. When cells are under stress, for example when the level of protein building blocks (amino acids) is too low, EIF2AK4 activates eIF2α. When turned on, eIF2α stimulates processes that reduce protein production, which helps conserve amino acids. In addition, activated eIF2α can trigger production of certain proteins called transcription factors, which control gene activity. The transcription factors regulated by eIF2α control the activity of genes involved in processes that help reduce the stress on the cell.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-10. Source review: 2015-03.

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
pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosisMONDO:0018554 · Evaluated 2022-12-02	Autosomal recessive	DefinitivePulmonary Hypertension 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: 638
Submissions for variants in or overlapping this gene: 945
Submissions explicitly reporting this gene: 890
Alleles reported pathogenic / likely pathogenic: 87
VariationIDs with uncertain significance: 196
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 EIF2AK4?

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 87 alleles in EIF2AK4 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 EIF2AK4.

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

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