PRNP (prion protein)

2007-02-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
ASCR,AltPrP,CD230,CJD,GSS,KURU,PRIP,PrP,PrP27-30,PrP33-35C,PrPc,p27-30
FUSION GENES

Other Information

Locus ID:

NCBI: 5621
MIM: 176640
HGNC: 9449
Ensembl: ENSG00000171867

Variants:

dbSNP: 5621
ClinVar: 5621
TCGA: ENSG00000171867
COSMIC: PRNP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171867ENST00000379440P04156
ENSG00000171867ENST00000379440Q53YK7
ENSG00000171867ENST00000424424A2A2V1
ENSG00000171867ENST00000430350P04156
ENSG00000171867ENST00000430350Q53YK7
ENSG00000171867ENST00000457586X6RKS3

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Prion diseasesKEGGko05020
Prion diseasesKEGGhsa05020
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
FerroptosisKEGGko04216
FerroptosisKEGGhsa04216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
376693222024Cross-seeding by prion protein inactivates TDP-43.3
376895912024Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).0
383474622024Integrated transcriptomics uncovers an enhanced association between the prion protein gene expression and vesicle dynamics signatures in glioblastomas.0
384742142024New Light on Prions: Putative Role of PrP(c) in Pathophysiology of Mood Disorders.0
390487352024Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.0
376693222024Cross-seeding by prion protein inactivates TDP-43.3
376895912024Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).0
383474622024Integrated transcriptomics uncovers an enhanced association between the prion protein gene expression and vesicle dynamics signatures in glioblastomas.0
384742142024New Light on Prions: Putative Role of PrP(c) in Pathophysiology of Mood Disorders.0
390487352024Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.0
351769652023Simulation analysis of selective alanine mutation effect on stability of human prion protein.0
367446452023PRNP expression predicts imaging findings in sporadic Creutzfeldt-Jakob disease.2
368434712023[Gerstmann-Sträussler disease: a familial case with common PRNP mutation and atypical features].0
368790702023A point mutation in GPI-attachment signal peptide accelerates the development of prion disease.0
369397232023Bilateral tonic-clonic seizure and focal cortical hyperexcitability in familial Creutzfeldt-Jakob disease with E200K mutation of the prion protein.0

Citation

Dessen P

PRNP (prion protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/50612/prnp-(prion-protein)