The PRNP gene homepage

General information
Gene symbol PRNP
Gene name prion protein
Chromosome 20
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_009087.1
Transcript reference NM_000311.3, NM_001080121.1, NM_001080122.1, NM_001080123.1, NM_001271561.1, NM_183079.2
Associated with diseases AD, CJD, DEM, FFI, GSD, HDL-1, PRND, Kuru, susceptibility to
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 24
Unique public DNA variants reported 6
Individuals with public variants 19
Hidden variants -
Date created November 30, -0001
Date last updated September 22, 2016
Version PRNP:160922

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:9449
Entrez Gene 5621
PubMed articles PRNP
OMIM - Gene 176640
OMIM - Diseases AD (Alzheimer disease (AD))
CJD (Creutzfeldt-Jakob disease (CJD))
FFI (insomnia, fatal, familial)
GSD (Gerstmann-Straussler disease (GSD))
HDL-1 (Huntington disease-like, type 1 (HDL-1))
PRND (prion disease (PRND))
Kuru, susceptibility to


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022450 20 transcript variant 1 NM_000311.3 NP_000302.1 24
00022451 20 transcript variant 3 NM_001080121.1 NP_001073590.1 24
00022452 20 transcript variant 2 NM_183079.2 NP_898902.1 24
00022453 20 transcript variant 4 NM_001080122.1 NP_001073591.1 24
00022454 20 transcript variant 5 NM_001080123.1 NP_001073592.1 24
00049809 20 transcript variant 6 NM_001271561.1 NP_001258490.1 24