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FLASH GENE
Symbol PRND contributors: - updated : 28-09-2007
HGNC name prion protein 2 (dublet)
HGNC id 15748
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