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FLASH GENE
Symbol PRND contributors: - updated : 28-09-2007
HGNC name prion protein 2 (dublet)
HGNC id 15748
Location 20pter-p12      Physical location : 4.702.555 - 4.709.105
Synonym name
  • PRP-like protein doppel
  • prion protein (PRP)-like, Doppel protein
  • Synonym symbol(s) DPL, PrPLP, DOPPEL, MGC41841
    DNA
    TYPE functioning gene
    STRUCTURE 6.00 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    C20orf28 20pter-q11.23 chromosome 20 open reading frame 28 CENPB 20p13 centromere protein B, 80kDa CDC25B 20p13 cell division cycle 25B C20orf29 20p13 chromosome 20 open reading frame 29 KIAA1271 20p13 KIAA1271 protein PANK2 20p13 pantothenate kinase 2 (Hallervorden-Spatz syndrome) RNF24 20p13-p12.1 ring finger protein 24 LOC388783 20 similar to hypothetical protein RPL21P2 20p13 ribosomal protein L21 pseudogene 2 MGC34919 20p13 hypothetical protein MGC34919 SMOX 20p13 spermine oxidase ADRA1D 20p13 adrenergic, alpha-1D-, receptor RPL7AL2 20p13 ribosomal protein L7a like 2 RPS4L2 20p13 ribosomal protein S4-like 2 PRNP 20p12.3 prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) PRND 20pter-p12 prion protein 2 (dublet) LOC149830 20p13 M8 protein RASSF2 20pter-p12.1 Ras association (RalGDS/AF-6) domain family 2 SLC23A2 5q31.2-q31.3 solute carrier family 23 (nucleobase transporters), member 2 C20orf30 20p13 chromosome 20 open reading frame 30 PCNA 20p12.3 proliferating cell nuclear antigen CDS2 20p13 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 LOC388784 20 similar to dJ680N4.2 (ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)) GPR73L1 20p13 G protein-coupled receptor 73-like 1 LOC388785 20 hypothetical gene supported by AK090863 MGC35023 20p13 hypothetical protein MGC35023
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain   lowly
    Reproductivefemale systemuterus   
     male systemtestis  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveSertoli cell
    Reproductivespermatozoa
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
  • two disulfide bonds, two sites for N glycosylation
  • N- and O-linked sugars
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Prnd
    intraspecies paralog to PRNP
    Homologene
    FAMILY prion protein family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    text attached to the cell surface via a glycosylphosphatidylinositol anchor
    basic FUNCTION
  • may be playing a major role in human male fertility
  • have an essential function in male spermatogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • coexists only with N-terminally truncated isoforms of PRNP on mature spermatozoa
  • interacts with RACK1 by means of its structured globular carboxyl-terminal region
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • no association with susceptibility to prion diseases
  • susceptibility to sporadic Creutzfeldt-Jakob disease
  • Variant & Polymorphism SNP
  • SNP T174M increasing the risk of sporadic Creutzfeldt-Jakob disease
  • SNP in the 3'UTR+28 increasing the risk of sporadic Creutzfeldt-Jakob disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS