PRKRA gene

protein activator of interferon induced protein kinase EIF2AK2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

From UniProt:

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.

From NCBI Gene:

  • Dystonia 16

From UniProt:

Dystonia 16 (DYT16): An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features. [MIM:612067]

Cytogenetic Location: 2q31.2, which is the long (q) arm of chromosome 2 at position 31.2

Molecular Location: base pairs 178,431,414 to 178,451,240 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q31.2, which is the long (q) arm of chromosome 2 at position 31.2
  • DYT16
  • HSD14
  • PACT
  • RAX