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FLASH GENE
Symbol PRSS56 contributors: mct/shn - updated : 03-05-2012
HGNC name protease, serine, 56
HGNC id
Corresponding disease
MCOP6 microphthalmia, isolated, posterior 6
Location 2q37.1      Physical location : -
Synonym name
  • putative serine protease 56
  • Synonym symbol(s) MCOP6
    DNA
    TYPE functioning gene
    STRUCTURE 5.25 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D2S2276 - D2S2193 - PRSS56 - D2S2344 - D2S206 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2158 - 603 - 2011 21397065
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnervecranial nerveoptic nerve highly Homo sapiens
    Visualeyeanterior segmentcornea lowly Homo sapiens
     eyeretina  moderately Homo sapiens
     eyesclera  moderately Homo sapiens
     eyeanterior segmentiris lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE) lowly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text in embryonic tissue, testis, brain, and eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal signal peptide
  • a peptidase S1 domain
  • HOMOLOGY
    interspecies ortholog to Prss56, Mus musculus
    ortholog to PRSS56, Pan troglodytes
    Homologene
    FAMILY serine peptidase of the chymotrypsin family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • trypsin-like serine peptidase
  • involved in catalytic processes in the vitreous and/or the sclera through its proteolytic activity during development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCOP6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • nanophthalmos (
  • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • genetic alteration of PRSS56 alters axial length and causes a mouse phenotype resembling (