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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
Corresponding disease
MYP25 myopia 25
Location 5q31.1      Physical location : 131.528.305 - 131.563.556
Synonym name prolyl-4-hydroxylase,alpha subunit
Synonym symbol(s) 4-PH alpha 2, MYP25
EC.number 1.14.11.2
DNA
TYPE functioning gene
STRUCTURE 37.72 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site   transcription factor
text structure
  • transcription factor binding sites, including those for Sox9
  • MAPPING cloned Y linked N status confirmed
    Physical map
    HINT1 5q31.2 histidine triad nucleotide binding protein 1 LOC90624 5q31.1 hypothetical protein LOC90624 SPEC2 5q31 hypothetical protein LOC90624 PDZGEF2 5q31.1 PDZ domain containing guanine nucleotide exchange factor (GEF) 2 ACTBP4 5q23.3 actin, beta pseudogene 4 FACL6 5q31 fatty-acid-Coenzyme A ligase, long-chain 6 IL3 5q31.1 interleukin 3 (colony-stimulating factor, multiple) CSF2 5q31.1 colony stimulating factor 2 (granulocyte-macrophage) LOC389325 5 LOC389325 P4HA2 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II RIL 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II SLC22A4 5q31.2 solute carrier family 22 (organic cation transporter), member 4 SLC22A5 5q31.1-q32 solute carrier family 22 (organic cation transporter), member 5 LOC389326 5 hypothetical gene supported by AK096941; AK128882 IRF1 5q31.1 interferon regulatory factor 1 IL5 5q31.1 interleukin 5 (colony-stimulating factor, eosinophil) RAD50 5q31 RAD50 homolog (S. cerevisiae) IL13 5q31.1 interleukin 13 IL4 5q31.1 interleukin 4 KIF3A 5q31 kinesin family member 3A SEPT8 5q31 kinesin family member 3A LOC134548 5q31.1 hypothetical protein LOC134548 APXL2 5q31.1 hypothetical protein LOC134548 GDF9 5q31.1 growth differentiation factor 9 QP-C 5q31.1 low molecular mass ubiquinone-binding protein (9.5kD) LEAP-2 5q31.1 liver-expressed antimicrobial peptide 2 AF5Q31 5q31 liver-expressed antimicrobial peptide 2 LOC389327 5 hypothetical gene supported by AK129671 LOC391832 5 similar to putative nucleic acid binding protein RY-1 FLJ20094 5q31.1 hypothetical protein FLJ20094 HSPA4 5q31.1-q32 heat shock 70kDa protein 4 KIAA1061 5q31.1 KIAA1061 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 splicing 2588 - 535 - 2003 14500733
  • also known as IIb
  • 15 exons
  • a 514 aa mature peptide (58.6 kda)
  • 15 splicing 2582 - 533 - 2003 14500733
  • also known as IIa
  • containing an alternate in-frame exon compared to variant 1
  • encoding the same isoform than variant 3
  • a 512 aa mature peptide (58.3 kda)
  • 15 exons
  • 15 splicing 2110 - 533 - 2003 14500733
  • differing in the 5' UTR compared to variant 1
  • also known as IIa
  • containing an alternate in-frame exon compared to variant 1
  • encoding the same isoform than variant 2
  • a 512 aa mature peptide (58.3 kda)
  • 15 exons
  • 16 - 2246 - 533 - 2003 14500733
    16 - 2252 - 535 - 2003 14500733
    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