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Gene

PRNP

prion protein (Kanno blood group)

Summary

Cytogenetic location
20p13
Coordinates
Chromosome 20: 4,686,456–4,701,588 (GRCh38)
Exons
2 exons across 15.1 kb
Protein
253 amino acids
Inheritance
Autosomal dominant
Also known as
CD230, PRP, AltPrP
Previous symbols
PRIP, GSS, CJD
MANE Select transcript
ENST00000379440.9NM_000311.5
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

  • Genetic Prion Disease (incl. Fatal Familial Insomnia)

    • Genetic Creutzfeldt-Jakob DiseaseAutosomal dominant

      A rapidly progressive dementia with movement problems caused by PRNP variants such as E200K.

      • 2 GenCC submitters rate it definitive or strong
    • Gerstmann-Straussler-Scheinker SyndromeAutosomal dominant

      A slowly progressive prion disease caused by PRNP variants, with ataxia followed by dementia.

      • 2 GenCC submitters rate it definitive or strong
    • Huntington Disease-Like 1Autosomal dominant

      A prion disease caused by PRNP octapeptide-repeat insertions, with chorea, psychiatric symptoms and dementia resembling Huntington disease.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PRNP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 20, with a bracket where PRNP sits. PRNP and 7 genes near it on chromosome 20, from 4,194,022 to 5,194,021.Chromosome 2020p13p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.334.2 Mb4.4 Mb4.6 Mb4.8 Mb5 MbADRA1D: 4,220,283–4,249,305, reverse strandADRA1DPRNP: 4,686,456–4,701,588, forward strandPRNPPRND: 4,721,909–4,728,460, forward strandPRNDRASSF2: 4,780,019–4,823,870, reverse strandRASSF2SLC23A2: 4,851,729–5,010,313, reverse strandSLC23A2TMEM230: 5,068,232–5,113,452, reverse strandTMEM230PCNA: 5,114,953–5,127,630, reverse strandPCNACDS2: 5,126,879–5,197,887, forward strandCDS2Diagram of PRNP: 2 exons on the forward strand of chromosome 20Exon 2: 17 known disease-causing sitesExon 1: 4,686,456–4,686,512, 57 basesExon 2: 4,699,211–4,701,588, 2,378 bases125′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 2.4 kb of the gene's 15.1 kb; 762 of those bases code for the protein.

How a genome test reads PRNP

17

positions in PRNP 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 15.1 kb of PRNP, introns included, not only the 2.4 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.). PRNP gene: prion protein (Kanno blood group). Retrieved 16 October 2026, from https://dantelabs.com/genes/prnp

Vancouver

Dante Labs. PRNP gene: prion protein (Kanno blood group) [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prnp

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