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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
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