EIF2AK4

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What is the official name of the EIF2AK4 gene?

The official name of this gene is “eukaryotic translation initiation factor 2 alpha kinase 4.”

EIF2AK4 is the gene's official symbol. The EIF2AK4 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the EIF2AK4 gene?

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.

How are changes in the EIF2AK4 gene related to health conditions?

pulmonary veno-occlusive disease - caused by mutations in the EIF2AK4 gene: Mutations in the EIF2AK4 gene are the primary genetic cause of a condition called pulmonary veno-occlusive disease (PVOD); at least 22 mutations in this gene have been found in affected individuals. In PVOD, excess fibrous tissue builds up in the small vessels in the lungs that carry oxygenated blood from the lungs to the heart (the pulmonary veins). This buildup narrows (occludes) the vessels and impairs blood flow. Because blood flow through the lungs is difficult, pressure rises in the vessels that carry blood that needs to be oxygenated to the lungs from the heart (pulmonary arteries). Increased pressure in these vessels is known as pulmonary arterial hypertension.
The EIF2AK4 gene mutations involved in PVOD likely lead to a complete loss of functional protein. It is not known how absence of EIF2AK4 protein function leads to the pulmonary vein abnormalities characteristic of PVOD.

Where is the EIF2AK4 gene located?

Cytogenetic Location: 15q15.1

Molecular Location on chromosome 15: base pairs 39,934,123 to 40,035,595

The EIF2AK4 gene is located on the long (q) arm of chromosome 15 at position 15.1.

More precisely, the EIF2AK4 gene is located from base pair 39,934,123 to base pair 40,035,595 on chromosome 15.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about EIF2AK4?

You and your healthcare professional may find the following resources about EIF2AK4 helpful.

Educational resources - Information pages
Madame Curie Biosciences Database (2000): Mechanism of Translation Initiation inEukaryotes
Genetic Testing Registry - Repository of genetic test information (1 link)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (3 links)

What other names do people use for the EIF2AK4 gene or gene products?

E2AK4_HUMAN
eukaryotic translation initiation factor 2-alpha kinase 4
GCN2
GCN2 eIF2alpha kinase
GCN2-like protein
general control nonderepressible 2
KIAA1338
PVOD2

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding EIF2AK4?

acids ; arteries ; cell ; gene ; hypertension ; kinase ; protein ; pulmonary ; stress ; tissue ;transcription ; translation ; veins ; veno-occlusive disease

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (6 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook