AtlasGene
EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
- HGNC 9437↗(opens in a new tab)
- Ensembl gene ENSG00000055332↗(opens in a new tab)
- NCBI Gene 5610↗(opens in a new tab)
Summary
- Cytogenetic location
- 2p22.2
- Coordinates
- Chromosome 2: 37,099,210–37,156,980 (GRCh38)
- Exons
- 17 exons across 57.8 kb
- Protein
- 551 amino acids
- Also known as
- PKR, PPP1R83
- Previous symbols
- PRKR
- MANE Select transcript
- ENST00000233057.9NM_001135651.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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No Genome Test report reads EIF2AK2 yet. The test sequences your whole genome, so your data includes it all the same.
How EIF2AK2 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 10 kb of the gene's 57.8 kb; 1,656 of those bases code for the protein.
Sequencing EIF2AK2
2Easy
How hard EIF2AK2 is to sequence with short reads, out of 100
0 · Easy100 · Hard
Almost all of EIF2AK2's exons sit where short reads map cleanly.
What adds to it: the share of EIF2AK2's exons in each kind of hard region
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0.4%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.7.2%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.6%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
A Dante Labs score from our own research, built on NIST's Genome in a Bottle maps of hard-to-sequence regions.How it's scoredEach bar is the share of EIF2AK2's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
2
positions in EIF2AK2 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 57.8 kb of EIF2AK2, introns included, not only the 10 kb of exons.
ClinVar pathogenic variants (3)
The EIF2AK2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Pathogenic 1
- Pathogenic/likely pathogenic 1
- Likely pathogenic 1
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg) (opens in a new tab) | dystonia 33 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001135651.3(EIF2AK2):c.516+283_688-251del (opens in a new tab) | leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001135651.3(EIF2AK2):c.388G>C (p.Gly130Arg) (opens in a new tab) | dystonia 33 | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
Traits linked to EIF2AK2
The Human Phenotype Ontology lists these as features of the rare conditions EIF2AK2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed CNS myelination
- Dystonia
- Abnormal gait
- Abnormality of movement
- Absent speech development
- Difficulty articulating speech
- Epilepsy
- Inability to coordinate movements when walking
Show 18 more traits
- Inability to walk
- Instability or lack of coordination of central trunk muscles
- Limb dystonia
- Parkinsonism
- Slow movements
- Tremor
- Axial dystonia
- Babinski sign
- Choreoathetosis
- Global developmental delay
- Head titubation
- Hemiballismus
- Intellectual disability
- Jerking
- More grooves in brain
- Neonatal seizure
- Degeneration of cerebrum
- Underdevelopment of part of brain called corpus callosum
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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.18-8b139e39.
Cite this page
Dante Labs. (n.d.). EIF2AK2 gene: eukaryotic translation initiation factor 2 alpha kinase 2. Retrieved 18 October 2026, from https://dantelabs.com/genes/eif2ak2
Dante Labs. EIF2AK2 gene: eukaryotic translation initiation factor 2 alpha kinase 2 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/eif2ak2
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