GENE REFERENCE / HGNC:9438

PRKRA

protein activator of interferon induced protein kinase EIF2AK2

protein-coding gene2q31.2Gene information

What does this gene do?

The PRKRA gene provides instructions for making a protein called PACT. This protein plays a role in the cell's response to stress, such as exposure to viruses, damaging molecules called free radicals, or other toxic substances. When a cell is under stress, the PACT protein turns on (activates) another protein called PKR, which then turns off (inactivates) the eIF2 alpha (eIF2α) protein. Inactivation of eIF2α lowers protein production, which helps protect cells from damage. The signals triggered by PACT can ultimately lead to self-destruction (apoptosis) of the cell if it remains under stress.

The signals sent by the PACT protein are also important for a process in the brain called synaptic plasticity. Synaptic plasticity is the ability of the connections between brain cells (synapses) to change and adapt over time in response to experience. This process is critical for learning and memory.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2019-06.

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: 266
Submissions for variants in or overlapping this gene: 498
Submissions explicitly reporting this gene: 455
Alleles reported pathogenic / likely pathogenic: 6
VariationIDs with uncertain significance: 98
VariationIDs with conflicting classifications: 6

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 PRKRA?

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 6 alleles in PRKRA 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 PRKRA.

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

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