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PRNP Gene

protein-coding   GIFtS: 69

GC20P004615
prion protein
(Previous name: prion protein (p27-30) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: PRIP, GSS, CJD)
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Aliases &
Descriptions
for PRNP gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

  User Feedback
Aliases & Descriptions
prion protein1 2     prion2
PRIP2 3 5     prion-related protein2
CD2301 2     prion protein PrP2
PRP1 3     GSS2
PrP33-35C2 3     CJD2
ASCR2 3     major prion protein2
CD230 antigen2 3     p27-302
PrP27-302 3     PrPc2
PrP2 3     MGC266792
prion protein (p27-30)1     

External Ids:    HGNC: 94491   Entrez Gene: 56212   Ensembl: ENSG000001718677   UniProtKB: P041563   

Search outside databases for aliases for PRNP gene

Previous GC identifers: GC20P004655 GC20P004662

Summaries
for PRNP gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  User Feedback		 Entrez Gene summary for PRNP:
The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to
aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide
repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically
and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere
in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler
disease, Huntington disease-like 1, and kuru. Alternative splicing results in multiple transcript variants encoding
the same protein. (provided by RefSeq)

UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156
Function: The function of PrP is not known. PrP is encoded in the host genome and is expressed both in normal and
infected cells. Isoform 2 may act as a growth suppressor by arresting the cell cycle at the G0/G1 phase

Gene Wiki entry for PRNP

Genomic Views
for PRNP gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the PRNP gene upstream (promoter) region "":
Max   c-Myc   Max1   c-Jun   AP-1   c-Fos   PPAR-gamma2   PPAR-gamma1   NF-1   E4BP4   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for PRNP:  ""
MePH25506-2A   

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

PRNP Gene in genomic location: bands according to Ensembl, locations according to "" (and/or Entrez Gene and/or Ensembl if different)
""

GeneLoc gene densities for chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P004615:  view genomic region     (about GC identifiers)

Start:
 4,666,797 bp from pter
End:
 4,690,360 bp from pter
Size:
 23,564 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  

Proteins
for PRNP gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156 (See protein sequence)
Recommended Name: Major prion protein precursor  
Size: 253 amino acids; 27661 Da
Subunit: PrP has a tendency to aggregate yielding polymers called "rods". Interacts with GRB2, ERI3/PRNPIP and SYN1 (By
similarity)
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor. Golgi apparatus (By similarity)
Subcellular location: Isoform 2: Cytoplasm. Nucleus. Note=Accumulates outside the secretory route in the cytoplasm,
from where it relocates to the nucleus
PDB structures from "" and Proteopedia "" :
1E1G (3D) ""    1E1J (3D) ""    1E1P (3D) ""    1E1S (3D) ""    1E1U (3D) ""    1E1W (3D) ""    1FKC (3D) ""    1FO7 (3D) ""    
1H0L (3D) ""    1HJM (3D) ""    1HJN (3D) ""    1I4M (3D) ""    1OEH (3D) ""    1OEI (3D) ""    1QLX (3D) ""    1QLZ (3D) ""    
1QM0 (3D) ""    1QM1 (3D) ""    1QM2 (3D) ""    1QM3 (3D) ""    2IV4 (3D) ""    2IV5 (3D) ""    2IV6 (3D) ""    2K1D (3D) ""    
2W9E (3D) ""    3HAF (3D) ""    3HAK (3D) ""    3HEQ (3D) ""    3HER (3D) ""    3HES (3D) ""    3HJ5 (3D) ""    3HJX (3D) ""    
Secondary accessions: O60489 P78446 Q15216 Q15221 Q27H91 Q5QPB4 Q8TBG0 Q96E70 Q9UP19
Alternative initiation: 2 isoforms:  P04156-1   P04156-2   

Post-translational modifications:

  • The glycosylation pattern (the amount of mono-, di- and non-glycosylated forms or glycoforms) seems to differ in normal
    • and CJD prion1
  • Isoform 2 is sumoylated by SUMO1 (By similarity)1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (5 alternative transcripts): 
    NP_000302.1  NP_001073590.1  NP_001073591.1  NP_001073592.1  NP_898902.1  


    ENSEMBL proteins: 
    ENSP00000397586 ENSP00000412529 ENSP00000368748 ENSP00000392210 ENSP00000392756 ENSP00000404007 
    ENSP00000411599 ENSP00000399376 ENSP00000368752 ENSP00000415284 


    Human Recombinant Proteins 
    ""Millipore Purified and/or Recombinant PRNP Protein
    ""Sigma-Aldrich Proteins for PRNP
    "" Browse R&D Systems for human recombinant proteins
    ""Browse recombinant and purified proteins available from Enzo Life Sciences
    ""HuPro® and/or Recombinant Proteins from Abnova for PRNP ""
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    ""Novus Biologicals Proteins for PRNP  ""
    Novus Biologicals Lysate for PRNP
    ""Browse Sino Biological Recombinant Proteins  ""

    5/8 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm TAS16004966
    GO:0005783 endoplasmic reticulum ISS--
    GO:0005794 Golgi apparatus ISS--
    GO:0005886 plasma membrane ISS--
    GO:0016020 membrane ----
    About this table

    "" PRNP for ontologies           About GeneDecksing



    Antibodies for PRNP: 
    ""Millipore Mono- and Polyclonal Antibodies for the study of PRNP
    ""Sigma-Aldrich Antibodies for PRNP
    "" Browse R&D Systems for Antibodies
    ""Monoclonal and Polyclonal Antibodies from Abnova (PRNP)
    "" Origene Antibodies (see all 2): PRNP ""
    ""Novus Biologicals Antibodies for PRNP
    ""Epitomics antibodies for PRNP

    Assays for PRNP: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Browse Enzo Life Sciences for kits & assays

    Protein Domains/
    Families
    for PRNP gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

      User Feedback
    "" PRNP for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000817 Prion

    Graphical View of Domain Structure for InterPro Entry P04156

    ProtoNet protein and cluster: P04156

    1 Blocks protein family: IPB000817 Prion protein

    UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156
    Similarity: Belongs to the prion family

    Gene Function
    for PRNP gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Browse Abnova for Chimera RNAi Products
    "" Origene 29mer shRNA kits in GFP-retroviral vector: PRNP
    Origene shRNA RFP: PRNP
    Origene basic RS shRNA: PRNP

    ""Applied Biosystems Silencer® siRNAs for PRNP
    ""Sigma-Aldrich siRNA for PRNP
    Sigma-Aldrich shRNA for PRNP
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 5): PRNP
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): PRNP
    Origene untagged cDNA clones in CMV expression vector (see all 5): PRNP
    ""Browse Sino Biological Human cDNA Clones  ""

    UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156
    Function: The function of PrP is not known. PrP is encoded in the host genome and is expressed both in normal and
    infected cells. Isoform 2 may act as a growth suppressor by arresting the cell cycle at the G0/G1 phase

    Genatlas biochemistry entry for PRNP:
    prion protein (p27-30)

    5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507 copper ion binding TAS16294306
    GO:0005515 protein binding IPI16286452 16294306
    GO:0008017 microtubule binding IDA16004966
    GO:0015631 tubulin binding IDA16004966
    GO:0042802 identical protein binding IPI16286452
    About this table

    "" PRNP for ontologies           About GeneDecksing

    Animal Models: 13 MGI mutant phenotypes (inferred from 27 alleles"") (MGI details for Prnp):

    behavior/neurologicalgrowth/sizehematopoietic systemhomeostasis/metabolismimmune system
    life span-post-weaning/agingmusclenervous systemno phenotypic analysisnormal
    otherreproductive systemskeleton

    "" PRNP for phenotypes           About GeneDecksing

    Pathways & Interactions
    for PRNP gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" PRNP for pathways           About GeneDecksing

    1 "" GeneAssist Pathway for PRNP
      ""  Prion Pathway

    1 "" Kegg Pathway  (Kegg details for PRNP):
      ""  hsa05020 Prion diseases

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRNP

    5/27 Interacting proteins for PRNP (ENSP000003687523 P041561, 2) via UniProtKB, MINT, and/or STRING (see all 27 ) ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671EBI-977302,EBI-77613
    PRNPP041561EBI-977302,EBI-977302
    BAT3P463792MINT-63361
    PSMA3P257882MINT-2862069
    PLGENSP000003089383STRING: ENSP00000308938
    About this table

    5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006878 cellular copper ion homeostasis NAS16004966
    GO:0006916 anti-apoptosis IEA--
    GO:0006979 response to oxidative stress ISS--
    GO:0008152 metabolic process TAS3755672
    GO:0046686 response to cadmium ion IEA--
    About this table

    "" PRNP for ontologies           About GeneDecksing


    Drugs & Compounds
    for PRNP gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

      User Feedback
    "" PRNP for compounds           About GeneDecksing

    "" Browse drugs & compounds from Enzo Life Sciences
    ""Sigma-Aldrich Small Molecules for PRNP:
    Small Molecule - Antagonist

    "" Compounds for PRNP available from Tocris Bioscience
    CompoundAction CAS number
    TCS PrP Inhibitor 13Antiprion agent; potently inhibits PrP-res accumulation[34320-83-7]
    Prion Protein 106-126 (human)Prion protein fragment[148439-49-0]
    About this table


    10/308 ""Novoseek chemical compound relationships for PRNP gene (see all 308 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    copper 100.00 404 15056461 (7), 14706620 (7), 18254729 (6), 17331076 (6) (see all 100)
    valine 37.69 81 9748018 (3), 16606639 (3), 8937783 (2), 8461023 (2) (see all 70)
    sinc 29.47 20 9462739 (4), 2900718 (4), 1357080 (4), 7999306 (2) (see all 8)
    methionine 25.10 129 8618678 (2), 7783876 (2), 19734292 (2), 19416900 (2) (see all 100)
    139a 14.40 9 19220459 (2), 18407424 (1), 17379700 (1), 17008136 (1) (see all 8)
    appa 6.55 9 9631435 (3), 9572563 (3), 12184497 (3)
    sa 65 5.31 2 15763182 (2)
    [cu](i)i 4.82 5 17257012 (3), 18778855 (2)
    guanidine thiocyanate 4.41 4 10516047 (2), 12817879 (1), 10668893 (1)
    guanidine hydrochloride 4.01 23 11375994 (5), 12161431 (4), 9748215 (2), 8031772 (2) (see all 13)
    About this table


    Transcripts
    for PRNP gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Browse Abnova for Chimera RNAi Products
    ""Applied Biosystems Silencer® siRNAs:  NM_000311  NM_001080121  NM_001080122  NM_001080123  NM_183079  
    "" Origene 29mer shRNA kits in GFP-retroviral vector: PRNP
    Origene shRNA RFP: PRNP
    Origene basic RS shRNA: PRNP

    ""Sigma-Aldrich siRNA for PRNP
    Sigma-Aldrich shRNA for PRNP
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""Search SABiosciences for microRNAs that regulate PRNP: ""
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_000311  NM_001080121  NM_001080122  NM_001080123  NM_183079  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 5): PRNP
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): PRNP
    Origene untagged cDNA clones in CMV expression vector (see all 5): PRNP
    Primers:"" Origene genome-wide validated SYBR primer pairs: PRNP
    ""SABiosciences RT2 qPCR Primer Assay for PRNP: PPH06079A ""

    REFSEQ mRNAs for PRNP gene (5 alternative transcripts): 

    NM_000311.3  NM_001080121.1  NM_001080122.1  NM_001080123.1  NM_183079.2  

    Additional cDNA sequence: 

    AB300825.1 AB300826.1 

    24/32 DOTS entries (see all 32 ):

    DT.92456884  DT.120809501  DT.91729019  DT.100882031  DT.95116132  DT.100882026  DT.101976293  DT.100882036 
    DT.120809636  DT.92456894  DT.92456889  DT.92456882  DT.100030812  DT.120809855  DT.92456883  DT.100882034 
    DT.95116141  DT.120809922  DT.120809461  DT.95116123  DT.100882029  DT.120809359  DT.120809384  DT.120809438 

    24/508 AceView cDNA sequences (see all 508 ):

    BQ086235 BP361815 CA844044 BU683405 BM992911 N48643 BM995502 BU191819 
    CD365268 BP348807 CA416614 BP360497 R96394 AA256449 BM312237 BP362719 
    BQ879647 BF448746 BX387765 CR611378 BU627167 BM999821 CB106311 CA430705 

    "" highest scoring ESTs for PRNP:

    AA029059 AA043921 AA046326 AA046389 AA092476 AA301046 AA301047 AA322674 AA394288 AA398020 

    Unigene Clusters for PRNP:

    Prion protein
    Hs.472010  [show with all ESTs], Hs.714553  [show with all ESTs]
    Unigene Representative Sequences: NM_000311, AB300826


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PRNP (see all 7 )

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4
    SP1:              -     -           -     -         
    SP2:              -     -                           
    SP3:              -     -                           
    SP4:              -     -                           
    SP5:              -     -                           

    About this scheme

    ECgene alternative splicing isoforms for PRNP

    10 Ensembl transcripts including schematic representations:
    ENST00000444805  ENST00000456340  ENST00000379436  ENST00000455665  ENST00000420824  ENST00000431433  
    ENST00000424424  ENST00000430350  ENST00000379440  ENST00000457586  

    Expression
    for PRNP gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    PRNP expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for PRNP

    1""  / 2""  / 3""

    5 probe-sets matching PRNP gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36159_s_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 U29185 0.20 1.00 0.72 1
    215707_s_at2, 3 U133-A 1 1.00 1.00 -- -- AV725328 0.60 1.00 0.82 1
    201300_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000311 0.60 1.00 0.82 1
    215707_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    201300_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    "" PRNP for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTCTTGTTTT

    SOURCE GeneReport for Unigene clusters: Hs.472010 Hs.714553

    Expression variation in blood from EXPOLDB for PRNP

    Primers:"" Origene genome-wide validated SYBR primer pairs: PRNP ""
    ""SABiosciences RT2 qPCR Primer Assay for PRNP: PPH06079A ""

    Orthologs
    for PRNP gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

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    Orthologs for PRNP gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 PRNP1   -- prion protein (p27-30) (Creutzfeldt-Jakob disease, more 87.3(n)
    87.7(a)    		 485783  XM_542906.2  XP_542906.2 
    chimpanzee
    (Pan troglodytes)    		 PRNP1   -- prion protein 99.21(n)
    99.21(a)    		 458076  NM_001009093.1  NP_001009093.1 
    cow
    (Bos taurus)    		 PRNP1   -- prion protein (p27-30) (Creutzfeldt-Jakob disease, more 88.05(n)
    92.03(a)    		 281427  NM_181015.1  NP_851358.1 
    rat
    (Rattus norvegicus)    		 Prnp1   -- prion protein 86.82(n)
    89.72(a)    		 24686  NM_012631.2  NP_036763.1 
    mouse
    (Mus musculus)    		 Prnp1, 5 2 (75.00 cM)5
    		 prion protein1, 5 85.32(n)1
    90.08(a)1    		 191221  NM_011170.11  NP_035300.11 
     AA9606665  AF1923825  (see all 39)
    About this table        Species with no ortholog for PRNP

    ENSEMBL Gene Tree for PRNP

    Paralogs
    for PRNP gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      User Feedback    		  --

    Genomic Variants
    for PRNP gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

      User Feedback    		UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156
    Polymorphism: The five tandem octapeptide repeats region is highly unstable. Insertions or deletions of octapeptide
    repeat units are associated to prion disease


    10/161 NCBI SNPs in PRNP are shown (see all 161 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 61)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 20 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs116987141,2
    		C,F,A,H4635712(+) AGTGGC/TGCTTT 5 -- ng31""5Minor allele frequency- T:0.01NS EA NA 490""
    ""
    rs27562711,2
    		C,F,H4618659(-) AGAATC/TGTATT 5 -- ng51""15Minor allele frequency- T:0.45NS EA NA WA 1058""
    ""
    rs126254441,2
    		C,F,H4635905(+) GGGAGC/TTTTTT 5 -- ng31""17Minor allele frequency- T:0.18NS EA NA WA 1410""
    --
    rs130403271,2
    		C,F4620321(+) CCCTGC/GTTGGC 1 -- ng51""3Minor allele frequency- G:0.09NA 76""
    ""
    rs72747581,2
    		C,F4681310(+) TGAACA/GTAACT 5 -- ut31""11Minor allele frequency- G:0.03NS EA NA WA 966""
    --
    rs766204601,2
    		C,F4681273(+) ACAACA/GCTGAA 5 -- ut31""1Minor allele frequency- G:0.04WA 50""
    --
    rs738961261,2
    		C,F4681325(+) CATATA/GTGAAA 5 -- ut31""1Minor allele frequency- G:0.04WA 50""
    ""
    rs110876541,2
    		C,F4680632(+) GAGGAA/TGGTCT 5 -- ut31""6Minor allele frequency- T:0.03NS EA NA WA 506""
    --
    rs782663631,2
    		C,F4619042(+) GGCGGC/TGCTTT 5 -- ng51""1Minor allele frequency- T:0.20WA 50""
    --
    rs604995671,2
    		C,F4618223(+) CCAAGC/TCGAGA 4 -- ng51""2Minor allele frequency- T:0.05NA 74""
    About this table

    HapMap Linkage Disequilibrium images for PRNP (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
          Database of Genomic Variants (DGV) variations for PRNP: --

    Disorders & Mutations
    for PRNP gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

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    "" PRNP for disorders           About GeneDecksing

    OMIM: 176640   disorders: 123400  137440  600072  606688  603218  

    UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156

  • PrP is found in high quantity in the brain of humans and animals infected with neurodegenerative diseases
    • known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD), fatal
    familial insomnia (FFI), Gerstmann-Straussler disease (GSD), Huntington disease-like type 1 (HDL1) and kuru in humans;
    scrapie in sheep and goat; bovine spongiform encephalopathy (BSE) in cattle; transmissible mink encephalopathy (TME);
    chronic wasting disease (CWD) of mule deer and elk; feline spongiform encephalopathy (FSE) in cats and exotic ungulate
    encephalopathy (EUE) in nyala and greater kudu. The prion diseases illustrate three manifestations of CNS
    degeneration: (1) infectious (2) sporadic and (3) dominantly inherited forms. TME, CWD, BSE, FSE, EUE are all thought
    to occur after consumption of prion-infected foodstuffs
  • Defects in PRNP are the cause of Creutzfeldt-Jakob disease (CJD) [MIM:123400]. CJD occurs primarily as a
    • sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be
    iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode
    implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected annimal meat in the
    pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1)
    spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the
    degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and
    myoclonic seizures, affecting adults in mid-life. Some patients present sleep disorders, abnormalities of high
    cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness
  • Defects in PRNP are the cause of fatal familial insomnia (FFI) [MIM:600072]. FFI is an autosomal dominant
    • disorder and is characterized by neuronal degeneration limited to selected thalamic nuclei and progressive insomnia
  • Defects in PRNP are the cause of Gerstmann-Straussler disease (GSD) [MIM:137440]. GSD is a heterogeneous
    • disorder and was defined as a spinocerebellar ataxia with dementia and plaquelike deposits. GSD incidence is less than
    2 per 100 million live births
  • Defects in PRNP are the cause of Huntington disease-like type 1 (HDL1) [MIM:603218]. HDL1 is an autosomal
    • dominant, early onset neurodegenerative disorder with prominent psychiatric features
  • Defects in PRNP are the cause of kuru [MIM:245300]. Kuru is transmitted during ritualistic cannibalism, among
    • natives of the New Guinea highlands. Patients exhibit various movement disorders like cerebellar abnormalities,
    rigidity of the limbs, and clonus. Emotional lability is present, and dementia is conspicuously absent. Death usually
    occurs from 3 to 12 month after onset
  • Defects in PRNP are the cause of prion disease with protracted course [MIM:606688]; an autosomal dominant
    • presenile dementia with a rapidly progressive and protracted clinical course. The dementia was characterized
    clinically by frontotemporal features, including early personality changes. Some patients had memory loss, several
    showed aggressiveness, hyperorality and verbal stereotypy, others had parkinsonian symptoms

    10/297 ""Novoseek disease relationships for PRNP gene (see all 297 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    infectious 100.00 454 12828865 (5), 3556164 (4), 18034781 (4), 12805461 (4) (see all 100)
    cjd 100.00 484 8707291 (7), 8937783 (5), 8799215 (5), 15305981 (5) (see all 100)
    prion disease 100.00 1997 7913756 (7), 17014722 (6), 7774117 (5), 20158453 (5) (see all 100)
    familial fatal insomnia 100.00 77 1346338 (4), 8909448 (2), 8647879 (2), 8105681 (2) (see all 61)
    creutzfeldt-jakob disease, variant 100.00 119 15148991 (5), 14990604 (5), 19097123 (4), 19081515 (4) (see all 73)
    neurodegenerative disease 100.00 225 19542614 (3), 2901696 (2), 18667494 (2), 16315279 (2) (see all 100)
    infection; prion 100.00 63 18407424 (2), 17703189 (2), 17485919 (2), 17237594 (2) (see all 56)
    creutzfeldt-jakob disease, sporadic 100.00 160 10935449 (12), 17047093 (6), 11579148 (6), 16847689 (5) (see all 75)
    gss syndrome 93.20 49 19675240 (2), 10889337 (2), 9883727 (1), 9813003 (1) (see all 47)
    creutzfeldt-jakob disease, familial 84.99 45 11756597 (3), 7951257 (2), 18478114 (2), 14522861 (2) (see all 38)
    About this table

    2 PharmGKB disease relationships for PRNP gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Creutzfeldt-Jakob SyndromeCO  GN  8707291 15539564
    KuruGN  15354868
    About this table

    GeneTests: PRNP
    Genetic Prion Diseases

    Locus Specific Mutation Databases: PRNP
    Human Gene Mutation Database: PRNP
    Genetic Association Database: PRNP
    Human Genome Epidemiology Navigator: PRNP (85 documents)

    Medical News
    for PRNP gene

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    Publications
    for PRNP gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

      User Feedback    		10/1131 PubMed articles for PRNP gene (see all 1131 ):

    Search for PRNP gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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    Genome Databases showing PRNP gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5621 HGNC: 9449 AceView: PRNP Ensembl:ENSG00000171867 euGenes: HUgn5621
    ECgene: PRNP Kegg: 5621 H-InvDB: PRNP

    Other Databases showing PRNP gene

    (According to HUGE)
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    Specialized Databases showing PRNP gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    The Official Mad Cow Disease Home Pagehttp://www.mad-cow.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRNP
    Wikipedia http://en.wikipedia.org/wiki/PRNP

    Intellectual Property
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      User Feedback    		Patent Information for PRNP gene: ""
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