PRKRA

Chr 2q31.2

protein activator of interferon induced protein kinase EIF2AK2

Aliases:: PACT, RAX, HSD14, DYT16
MANE:: ENST00000325748.9

OMIM: 603424 ↗NCBI: 8575 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PRKRA · O75569

v62025-08-01

Predicted Aligned Error matrix for PRKRA — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.4/ 100

Confident

313 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)38%
Low(50–70)11%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Early onset dystonia
BIALLELIC, autosomal or pseudoautosomal
Parkinson Disease and Complex Parkinsonism
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

dystonia 16
0.74
Dystonia
0.47
psoriasis
0.30
atopic eczema
0.30
hereditary disease
0.19
hepatocellular carcinoma
0.09
conduction system disorder
0.09
pachyonychia congenita
0.08
autism
0.07
auriculocondylar syndrome
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Interferon-inducible double-stranded RNA-dependent protein kinase activator A

Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-mediated post-transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at 'Lys-386' at 'Ser-392' respectively and enhances its activity in a EIF2AK2/PKR-dependent manner (By similarity). May function as regulator of gastric epithelial differentiation (By similarity)