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FLASH GENE
Symbol P4HA2 contributors: mct - updated : 01-03-2017
HGNC name procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II
HGNC id 8547
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately
 vessel   highly
Digestiveesophagus   moderately
Endocrineneuroendocrinepituitary  moderately
 parathyroid   moderately
Nervousnerve   moderately
Reproductivefemale systemuteruscervix moderately
 female systemovary  moderately
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  moderately
Muscular   moderately
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text predominantly in umbilical cord
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a TPR repeat
  • a PKHD (prolyl/lysyl hydroxylase) domain
  • conjugated GlycoP
    mono polymer heteromer , tetramer
    isoforms Precursor a 21 aa signal peptide (2.4 kda)
    HOMOLOGY
    interspecies homolog to murine P4ha2 (91.8pc)
    homolog to rattus P4ha2 (93.1pc)
    Homologene
    FAMILY
    CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • catalyzing the posttranslational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins
  • P4HA1 and P4HA2 are required for collagen deposition,
  • P4HA1, P4HA2, and PLOD2 mediate remodeling of ECM composition, alignment, and mechanical properties in response to hypoxia
  • critical role of P4HA2 in breast cancer progression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism protein
    signaling signal transduction , sensory transduction/olfaction
    a component
  • heterotetramer of two alpha-2 chains and two beta chains (the beta chain is the multi-functional PDI)
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Fe2+
  • protein
  • HIF1A activates expression of genes encoding collagen prolyl (P4HA1 and P4HA2) and lysyl (PLOD2) hydroxylases
  • cell & other
  • L-ascorbic acid
  • REGULATION
    induced by p53
    inhibited by enzyme non inhibited by poly (L-proline)
    ASSOCIATED DISORDERS
    corresponding disease(s) MYP25
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    in breast tumor cells compared with its adjacent normal tissues
    Susceptibility to Giant Cell Arteritis (GCA)
    Variant & Polymorphism SNP rs128738 increasing the risk of GCA
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    potential therapeutic target for breast cancer progression
    ANIMAL & CELL MODELS