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Gene

PRKRA

protein activator of interferon induced protein kinase EIF2AK2

Summary

Cytogenetic location
2q31.2
Coordinates
Chromosome 2: 178,431,414–178,451,175 (GRCh38)
Exons
8 exons across 19.8 kb
Protein
313 amino acids
Inheritance
Autosomal recessive
Also known as
PACT, RAX, HSD14, DYT16
MANE Select transcript
ENST00000325748.9NM_003690.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Dystonia 16Autosomal recessive

      Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

      • 3 GenCC submitters rate it definitive or strong
    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PRKRA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where PRKRA sits. PRKRA and 8 genes near it on chromosome 2, from 177,941,295 to 178,941,294.Chromosome 22q31.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3178 Mb178.2 Mb178.4 Mb178.6 Mb178.8 MbPDE11A: 177,623,244–178,108,339, reverse strandPDE11ARBM45: 178,112,384–178,139,011, forward strandRBM45OSBPL6: 178,193,711–178,402,893, forward strandOSBPL6PRKRA: 178,431,414–178,451,175, reverse strandPRKRAPJVK: 178,451,346–178,462,408, forward strandPJVKFKBP7: 178,463,664–178,478,604, reverse strandFKBP7PLEKHA3: 178,480,347–178,516,463, forward strandPLEKHA3TTN: 178,525,989–178,830,802, reverse strandTTNCCDC141: 178,829,757–179,051,697, reverse strandCCDC141Diagram of PRKRA: 8 exons on the reverse strand of chromosome 2Exon 7: 2 known disease-causing sitesExon 8: 178,431,414–178,432,254, 841 basesExon 7: 178,436,145–178,436,319, 175 basesExon 6: 178,441,610–178,441,704, 95 basesExon 5: 178,443,267–178,443,384, 118 basesExon 4: 178,444,422–178,444,500, 79 basesExon 3: 178,447,505–178,447,586, 82 basesExon 2: 178,450,242–178,450,411, 170 basesExon 1: 178,450,966–178,451,175, 210 bases876543215′3′

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 1.8 kb of the gene's 19.8 kb; 942 of those bases code for the protein.

How a genome test reads PRKRA

2

positions in PRKRA 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 19.8 kb of PRKRA, introns included, not only the 1.8 kb of exons.

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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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

APA

Dante Labs. (n.d.). PRKRA gene: protein activator of interferon induced protein kinase EIF2AK2. Retrieved 17 October 2026, from https://dantelabs.com/genes/prkra

Vancouver

Dante Labs. PRKRA gene: protein activator of interferon induced protein kinase EIF2AK2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/prkra

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