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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRKRA
protein activator of interferon induced protein kinase EIF2AK2
Chromosome 2 · 2q31.2
NCBI Gene: 8575Ensembl: ENSG00000180228.14HGNC: HGNC:9438UniProt: A0A7I2V2I8
209PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingdouble-stranded RNA bindingprotein bindingenzyme activator activitydystonia 16Dystoniaatopic eczemapsoriasis
✦AI Summary

PRKRA (protein activator of interferon-induced protein kinase EIF2AK2) is a dsRNA-binding protein that functions as a critical regulator of translation control and innate immunity. As a PKR activator, PRKRA can independently sense double-stranded RNA through its dimerized dsRNA-binding domains and sequester eIF2 complexes from the translation machinery, inhibiting global protein synthesis in a PKR-independent manner 1. This mechanism operates particularly in pluripotent cells and early embryos where it restricts RNA virus replication 1. PRKRA also participates in RNA interference pathways, facilitating siRNA processing by DICER1 and RISC complex assembly 1. Additionally, PRKRA modulates p53 function through promoting its sumoylation and phosphorylation in a PKR-dependent manner. Disease-wise, mutations in PRKRA cause DYT16 dystonia, a monogenic form of isolated dystonia characterized by abnormal movements and postures 234. DYT16 involves endoplasmic reticulum stress response pathways; the molecular mechanism linking PRKRA dysfunction to basal ganglia pathology remains incompletely understood 25. Beyond neurological disease, serum PRKRA protein levels associate with long-term benefits in immunotherapy-treated metastatic NSCLC patients 6. PRKRA's role in stress responses—including calcium-triggered stress granule formation during lysosomal damage—highlights its broader cytoprotective functions 7.

Sources cited
1
PRKRA dimer senses dsRNA and inhibits translation by sequestering eIF2 complexes; functions in PKR-independent manner in pluripotent cells and restricts viral replication
PMID: 40280134
2
PRKRA mutations linked to dystonia via endoplasmic reticulum stress response pathway
PMID: 37738511
3
PRKRA (DYT16) mutations cause isolated dystonia, a monogenic form of the disorder
PMID: 24092288
4
Tremor reported in DYT-PRKRA dystonia patients as phenotypic feature of monogenic dystonia
PMID: 34264428
5
PRKRA gene mutations linked to DYT16 dystonia-parkinsonism with unknown relation to basal ganglia disorders
PMID: 20590807
6
PRKRA participates in calcium-triggered stress granule formation for cell survival in response to lysosomal damage
PMID: 39962896
7
Serum PRKRA protein levels associated with long-term benefits in immunotherapy-treated metastatic NSCLC patients
PMID: 39991958
Disease Associationsⓘ21
dystonia 16Open Targets
0.76Strong
DystoniaOpen Targets
0.51Moderate
atopic eczemaOpen Targets
0.32Weak
psoriasisOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
dystonic disorderOpen Targets
0.16Weak
conduction system disorderOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
pachyonychia congenitaOpen Targets
0.08Suggestive
placenta praeviaOpen Targets
0.07Suggestive
microtiaOpen Targets
0.06Suggestive
Non-syndromic genetic deafnessOpen Targets
0.06Suggestive
Bilateral microtia - deafness - cleft palateOpen Targets
0.06Suggestive
bilateral microtia-deafness-cleft palate syndromeOpen Targets
0.06Suggestive
coxoauricular syndromeOpen Targets
0.06Suggestive
deafnessOpen Targets
0.06Suggestive
obesityOpen Targets
0.05Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
Dystonia 16UniProt
Pathogenic Variants5
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)Pathogenic
Dystonia 16|not provided|PRKRA-related disorder
★★☆☆2025→ Residue 222
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)Pathogenic
Dystonia 16
★★☆☆2023→ Residue 213
NM_003690.5(PRKRA):c.74A>G (p.Lys25Arg)Likely pathogenic
Dystonia 16
☆☆☆☆2024→ Residue 25
NM_003690.5(PRKRA):c.267_268del (p.His89fs)Pathogenic
Dystonia 16
☆☆☆☆2008→ Residue 89
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTALikely pathogenic
Dystonia 16
☆☆☆☆
View on ClinVar ↗
Related Genes
PRORPProtein interaction100%XPO5Protein interaction99%EIF2AK2Protein interaction99%IFIH1Protein interaction96%POP7Protein interaction93%POP5Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Heart
80%
Bone Marrow
61%
Ovary
56%
Lung
50%
Liver
45%
Gene Interaction Network
Click a node to explore
PRKRAPRORPXPO5EIF2AK2IFIH1POP7POP5
PROTEIN STRUCTURE
Preparing viewer…
PDB2DIX · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.44–0.93]
RankingsWhere PRKRA stands among ~20K protein-coding genes
  • #2,002of 20,598
    Most Researched209 · top 10%
  • #3,484of 5,498
    Most Pathogenic Variants5
  • #8,598of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedPRKRA
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Genetics and Pathogenesis of Dystonia.
PMID: 37738511
Annu Rev Pathol · 2024
1.00
2
Prkra dimer senses double-stranded RNAs to dictate global translation efficiency.
PMID: 40280134
Mol Cell · 2025
0.90
3
Dystonia-plus syndromes.
PMID: 20590807
Eur J Neurol · 2010
0.80
4
Calcium release from damaged lysosomes triggers stress granule formation for cell survival.
PMID: 39962896
Autophagy · 2025
0.70
5
DYT-
PMID: 35625640
Biomolecules · 2022
0.64