Gene
EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3
- HGNC 3255↗(opens in a new tab)
- Ensembl gene ENSG00000172071↗(opens in a new tab)
- NCBI Gene 9451↗(opens in a new tab)
Summary
- Cytogenetic location
- 2p11.2
- Coordinates
- Chromosome 2: 88,556,741–88,627,464 (GRCh38)
- Exons
- 17 exons across 70.7 kb
- Protein
- 1,116 amino acids
- Also known as
- PEK, PERK
- MANE Select transcript
- ENST00000303236.9NM_004836.7
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads EIF2AK3 yet. The test sequences your whole genome, so your data includes it all the same.
How EIF2AK3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.5 kb of the gene's 70.7 kb; 3,351 of those bases code for the protein.
How a genome test reads EIF2AK3
55
positions in EIF2AK3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 70.7 kb of EIF2AK3, introns included, not only the 4.5 kb of exons.
Traits linked to EIF2AK3
The Human Phenotype Ontology lists these as features of the rare conditions EIF2AK3 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Insulin resistant diabetes
- Neonatal insulin-dependent diabetes mellitus
- High liver enzymes
- Low albumin
- Dehydration
- Fever
- High blood ammonia levels
- High blood bilirubin levels
Show 3 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). EIF2AK3 gene: eukaryotic translation initiation factor 2 alpha kinase 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/eif2ak3
Dante Labs. EIF2AK3 gene: eukaryotic translation initiation factor 2 alpha kinase 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/eif2ak3
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