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FLASH GENE
Symbol P3H2 contributors: mct - updated : 02-01-2019
HGNC name prolyl 3-hydroxylase 2
HGNC id 19317
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