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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
    Physical map
    MAP3K10 19q13.2 mitogen-activated protein kinase kinase kinase 10 FLJ30373 19q13.2 hypothetical protein FLJ30373 FLJ13265 19q13.2 hypothetical protein FLJ13265 AKT2 19q13.2 v-akt murine thymoma viral oncogene homolog 2 FLJ36888 19q13.2 hypothetical protein FLJ36888 PLD3 19q13.2 phospholipase D3 FLJ32818 PRX 19q13.13-13.2 periaxin SEI1 19q13.1-q13.2 periaxin RBT1 19q13.1-q13.2 periaxin BLVRB 19q13.13-q13.2 biliverdin reductase B (flavin reductase (NADPH)) SPTBN4 19q13.13 spectrin, beta, non-erythrocytic 4 LOC92799 19q13.2 hypothetical protein BC007653 LTBP4 19q13.1-q13.2 latent transforming growth factor beta binding protein 4 NUMBL 19q13-q13.2 numb homolog (Drosophila)-like ADCK4 19q13.2 aarF domain containing kinase 4 ITPKC 19q13.1 inositol 1,4,5-trisphosphate 3-kinase C FLJ41131 19q13.2 FLJ41131 protein SNRPA 19q13.2 small nuclear ribonucleoprotein polypeptide A MIA 19q13.32-q13.33 melanoma inhibitory activity RAB4B 19q13.2 RAB4B, member RAS oncogene family EGLN2 19q13.2 egl nine homolog 2 (C. elegans) CYP2T2P 19q13.2 cytochrome P450, family 2, subfamily T, polypeptide 2 pseudogene CYP2F1P 19q13.2 cytochrome P450, family 2, subfamily F, polypeptide 1 pseudogene CYP2A6 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 6 CYP2A7 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 7 CYP2G1 19q13.2 cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene CYP2A7P1 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1 CYP2B7 19q13.2 cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene CYP2B6 19q13.2 cytochrome P450, family 2, subfamily B, polypeptide 6 CYP2G2 19pter-p13.3 cytochrome P450, family 2, subfamily G, polypeptide 2 CYP2A13 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 13 CYP2F1 19q13.2 cytochrome P450, family 2, subfamily F, polypeptide 1 CYP2T3P 19q13.32 cytochrome P450, family 2, subfamily T, polypeptide 3 pseudogene CYP2S1 19q13.1 cytochrome P450, family 2, subfamily S, polypeptide 1 AXL 19q13.1 AXL receptor tyrosine kinase
    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