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FLASH GENE
Symbol P3H2 contributors: mct - updated : 02-01-2019
HGNC name prolyl 3-hydroxylase 2
HGNC id 19317
Corresponding disease
MCVD myopia, high, with cataract and vitreoretinal degeneration
Location 3q28      Physical location : -
Synonym name
  • prolyl 3-hydroxylase 3
  • myxoid liposarcoma associated protein 4
  • leprecan-like 1
  • Synonym symbol(s) LEPREL2, MLAT4, FLJ10718, MCVD
    EC.number 1.14.11.7
    DNA
    TYPE functioning gene
    STRUCTURE 165.71 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3082 - 527 - 2011 21757687
    15 - 3477 - 708 - 2011 21757687
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Endocrineparathyroid   highly
    Nervousbrain    
    Reproductivefemale systemovary   
     male systemprostate  highly
    Urinarykidneytubuleconvoluted tubuleproximal tubulehighly
    Visualeyelens    Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificchondrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal sequence
  • four tetratricopeptide repeats (TPRs)
  • a leucine zipper
  • a P-loop
  • a prolyl 4-hydroxylase alpha domain (P4Halpha)
  • and a C-terminal KDEL ER-retention motif
  • HOMOLOGY
    Homologene
    FAMILY
  • leprecan family of proteoglycans, P3H family
  • prolyl 3-hydroxylases family
  • CATEGORY enzyme , structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • catalyzing the posttranslational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences
  • in collagens and other proteins
  • P3H2 is responsible for the hydroxylation of collagen IV, which has the highest 3-hydroxyproline content of all collagens (PMUID: 18487197)
  • tissue specific P3H1, P3H2, P3H3 gene expression in both fetal and adult tissues indicating a developmental role for prolyl 3-hydroxylase activity
  • role for P3H2 in post-translational modification of fibril-forming collagens
  • P3H1 preferentially 3-hydroxylates proline at a single site in collagen type I chains, whereas P3H2 is responsible for 3-hydroxylating multiple proline sites in collagen types I, II, IV, and V
  • is involved in the post-translational modification of fibrillar collagens
  • role for the Leprecans in the post-translational modification of collagens expressed in the stroma of the reproductive organs
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    iron and ascorbate
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCVD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    altered collagen prolyl 3-hydroxylation is caused by loss of P3H2
    tumoral     --low  
    in human hepatocellular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • P3h2-null mice are embryonic-lethal by embryonic day 8.5