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FLASH GENE
Symbol EGLN2 contributors: mct/ - updated : 17-02-2014
HGNC name egl nine homolog 2 (C. elegans)
HGNC id 14660
Location 19q13.2      Physical location : 41.305.047 - 41.314.336
Synonym name
  • HIF-prolyl hydroxylase 1
  • estrogen-induced tag 6
  • EGL nine (C.elegans) homolog
  • prolyl hydroxylase domain-containing protein 1
  • hypoxia-inducible factor prolyl hydroxylase 1
  • Synonym symbol(s) EIT6, PHD1, HIFPH1, HPH-3
    EC.number 1.14.11.29
    DNA
    TYPE functioning gene
    STRUCTURE 9.29 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2111 45.6 407 - 2007 17101781
    6 - 2167 - 407 - 2007 17101781
    downstream start codon
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrineadrenal gland   highly
     pancreas    
    Lymphoid/Immunelymph node   highly
     spleen   highly
     thymus   highly
    Reproductivemale systemprostate   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a PKHD (prolyl/lysyl hydroxylase) domain
  • at least one nuclear localization signal (NLS)
  • HOMOLOGY
    interspecies ortholog to C.elegans Egl9
    intraspecies homolog to EGLN1
    Homologene
    FAMILY
  • 2OG-Fe(II) oxygenase superfamily
  • prolyl-4-hydroxylases (PHDs)family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • regulator of hypoxia-inducible factor HIF, alpha-1 subunit by hydroxyprenylation and targeting it to proteasome degradation
  • contributing in a non-redundant manner to the regulation of both HIF-1alpha and HIF-2alpha subunits, regulating the stability of the hypoxia-inducible factors (HIFs) in an oxygen-dependent manner
  • acting as an oxygen sensor, that controls this switch in skeletal muscle and determines hypoxia tolerance
  • role for EGLN2 as a positive regulator of intestinal epithelial cell apoptosis in the inflamed colon
  • EGLN2, EGLN3 control the transactivation activity of ATF4
  • EGLN3 with EGLN1, EGLN2 are cellular oxygen sensors that can mark HIF1A for von Hippel-Lindau protein-mediated proteasomal destruction
  • responsible for posttranslational modification of prolines on specific target proteins
  • critical molecular link between oxygen sensing and cell-cycle control
  • by modulating CEP192 levels, EGLN2 thereby affects the processes of centriole duplication and centrosome maturation and contributes to the regulation of cell-cycle progression
  • CELLULAR PROCESS cell cycle
    cell life, proliferation/growth
    cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    text oxygen homeostasis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • iron and ascorbate
  • protein
  • HIF1A
  • ATF4 is a protein interacting with EGLN2 as well as EGLN3, but not with EGLN1
  • its function is required for centrosome duplication and maturation through modification of the critical centrosome component CEP192
  • can hydroxylate FOXO3 on two specific prolyl residues
  • SPOP is a tumor suppressor to down-regulate EGLN2 in prostate cancer
  • cell & other
    REGULATION
    induced by estrogen
    Other regulated by SIAH2
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    is protective against colitis through decreased epithelial cell apoptosis and consequent enhancement of intestinal epithelial barrier function
    tumoral     --other  
    dysregulation of EGLN2 facilitated prostate cancer growth both in cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target pharmacological inhibition may provide a useful means to protect muscle, and potentially other organs, from ischemic injury
    SystemTypeDisorderPubmed
    immunologyinflammatory 
    targeted EGLN2 inhibition may represent a new therapeutic approach in inflammatory bowel disease
    ANIMAL & CELL MODELS