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FLASH GENE
Symbol PLOD2 contributors: mct/npt/pgu - updated : 01-03-2017
HGNC name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
HGNC id 9082
Corresponding disease
BRKS2 Bruck syndrome 2
Location 3q24      Physical location : 145.787.227 - 145.879.282
Synonym name
  • lysyl hydroxylase isoform 2
  • telopeptide lysyl hydroxylase
    • Synonym symbol(s) HGNC9082, LH2, TLH
    EC.number 1.14.11.4
    DNA
    TYPE functioning gene
    STRUCTURE 92.06 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • TGFB1 induces a SP1- and SMAD3-dependent recruitment of histone modifying enzymes to the PLOD2 promoter other than the currently known TGFB1 downstream co-activators and epigenetic modifications
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 4072 - 758 ubiquitous, overexpressed in scleroderma fibroblasts 2009 19110540
  • LH2B
  • thought to play a pivotal role in fibrosis by directing the collagen cross-link pattern
  • exerts a bimodal function on collagen synthesis in dermal fibroblasts
    • 19 splicing 4009 84.7 737 restricted to kidney, liver, spleen, placenta 2009 19110540
  • LH2A
  • a spliced out exon
    		•
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
     vesselaorta   
    Endocrinepancreas   highly
    Nervousmeninges    
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal signal peptide
  • a C terminal lysyl hydroxylaselase domain
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Plod2
    intraspecies homolog to PLOD3
    Homologene
    FAMILY
  • lysyl hydroxylase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • catalyzing the hydroxylation of lysyl residues in collagenous sequences
  • extracellular matrix maintenance, playing an important role in fibrotic processes
  • collagen telopeptide, bifunctional protein having a potential role in the pathogenesis of fibrosis
  • FKBP10, PLOD2 and SERPINH1, acts during procollagen maturation to contribute to molecular stability and post-translational modification of type I procollagen, without which bone mass and quality are abnormal and fractures and contractures result
  • P4HA1, P4HA2, and PLOD2 mediate remodeling of ECM composition, alignment, and mechanical properties in response to hypoxia
  • hydroxylates lysine residues in collagen telopeptides and is essential for collagen pyridinoline cross-link formation
  • PLOD2 regulated by HIF1A is a potential regulator of peritoneal dissemination of gastric cancer
  • promotes cell invasiveness and migration in GC (gastric cancer) under hypoxia and lead to peritoneal dissemination of GC
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • FKBP10 forms complexes with PLOD2 splice variants LH2A and LH2B but not with PLOD1 and PLOD3
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • iron, ascorbate
    • protein
  • interaction with PITX2 (reduced PITX2 expression could decrease PLOD2 expression and hence facilitate ovarian ECM degradation, leading to hypothyroidism associated reproductive disorders)
  • RBFOX2 plays an integral role in the regulation of PLOD2 splicing
  • RBFOX2, RBFOX1
  • HIF1A activates expression of genes encoding collagen prolyl (P4HA1 and P4HA2) and lysyl (PLOD2) hydroxylases
  • regulated by HIF1A and mediates extracellular matrix remodeling, alignment, and mechanical properties
    • cell & other
    REGULATION
    Other regulated by PITX2 (homeodomain transcription factor, which regulates PLOD2 gene in brain tissue, transactivates gonadotropin genes in pituitary and plays a substantial role in cell growth and proliferation in different tissues)
    ASSOCIATED DISORDERS
    corresponding disease(s) BRKS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    fibrotic process in isoform b
    tumoral     --over  
    in glioblastoma with poor prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS