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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EGLN3 Gene

protein-coding   GIFtS: 66
GCID: GC14M034393

Egl-9 Family Hypoxia-Inducible Factor 3

(Previous names: EGL nine (C.elegans) homolog 3, egl nine homolog 3 (C. elegans))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Egl-9 Family Hypoxia-Inducible Factor 31 2     HIFPH32 5
PHD32 3 5     EGL Nine (C.Elegans) Homolog 31
HIF Prolyl Hydroxylase 31 2     Egl Nine Homolog 3 (C. Elegans)1
Hypoxia-Inducible Factor Prolyl Hydroxylase 32 3     HIFP4H32
Prolyl Hydroxylase Domain-Containing Protein 32 3     Egl Nine Homolog 32
HIF-PH32 3     Egl Nine-Like Protein 3 Isoform2
HPH-12 3     EC 1.14.11.293
HPH-32 3     EC 1.14.118
HIF-Prolyl Hydroxylase 32 3     

External Ids:    HGNC: 146611   Entrez Gene: 1123992   Ensembl: ENSG000001295217   OMIM: 6064265   UniProtKB: Q9H6Z93   

Export aliases for EGLN3 gene to outside databases

Previous GC identifers: GC14M031770 GC14M028180 GC14M032383 GC14M033463 GC14M014510


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for EGLN3 Gene: 
EGLN3 (egl-9 family hypoxia-inducible factor 3) is a protein-coding gene. Diseases associated with EGLN3 include severe pre-eclampsia, and hypoxia, and among its related super-pathways are Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha and Development HGF signaling pathway. GO annotations related to this gene include L-ascorbic acid binding and iron ion binding. An important paralog of this gene is EGLN2.

UniProtKB/Swiss-Prot: EGLN3_HUMAN, Q9H6Z9
Function: Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of
4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each
of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also
hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylation on the NODD site
by EGLN3 appears to require prior hydroxylation on the CODD site. Hydroxylated HIFs are then targeted for
proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the
hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the
nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN3 is the most
important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates
PKM in hypoxia, limiting glycolysis. Under normoxia, hydroxylates and regulates the stability of ADRB2. Regulator
of cardiomyocyte and neuronal apoptosis. In cardiomyocytes, inhibits the anti-apoptotic effect of BCL2 by
disrupting the BAX-BCL2 complex. In neurons, has a NGF-induced proapoptotic effect, probably through regulating
CASP3 activity. Also essential for hypoxic regulation of neutrophilic inflammation. Plays a crucial role in DNA
damage response (DDR) by hydroxylating TELO2, promoting its interaction with ATR which is required for activation
of the ATR/CHK1/p53 pathway

Gene Wiki entry for EGLN3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EGLN3 gene promoter:
         AP-1   ATF-2   MyoD   POU6F1 (c2)   YY1   Max   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): EGLN3 promoter sequence
   Search SABiosciences Chromatin IP Primers for EGLN3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EGLN3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q13.1   Ensembl cytogenetic band:  14q13.1   HGNC cytogenetic band: 14q12

EGLN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EGLN3 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M034393:  view genomic region     (about GC identifiers)

Start:
34,393,421 bp from pter      End:
34,931,980 bp from pter
Size:
538,560 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EGLN3_HUMAN, Q9H6Z9 (See protein sequence)
Recommended Name: Egl nine homolog 3  
Size: 239 amino acids; 27261 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Cofactor: Ascorbate
Subunit: Interacts with WDR83; the interaction leads to almost complete elimination of HIF-mediated reporter
activity (By similarity). Interacts with BCL2 (via its BH4 domain); the interaction disrupts the BAX-BCL4 complex
inhibiting the anti-apoptotic activity of BCL2. Interacts with ADRB2; the interaction hydroxylates ADRB2
facilitating its ubiquitination by the VHL-E3 ligase complex. Interacts with PAX2; the interaction targets PAX2
for destruction. Interacts with PKM; the interaction hydroxylates PKM in hypoxia
Subcellular location: Nucleus. Cytoplasm. Note=Colocalizes with WDR83 in the cytoplasm (By similarity)
Secondary accessions: Q2TA79 Q3B8N4 Q6P1R2

Explore the universe of human proteins at neXtProt for EGLN3: NX_Q9H6Z9

Explore proteomics data for EGLN3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H6Z9

  • 4/6 DME Specific Peptides for EGLN3 (Q9H6Z9) (see all 6)
     TVWYFDA  ALEYIVPC  RGDQITWI  GYVRHVDNP 

    EGLN3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EGLN3 Protein Expression
    REFSEQ proteins: NP_071356.1  
    ENSEMBL proteins: 
     ENSP00000250457   ENSP00000447470   ENSP00000451316   ENSP00000446572  
    Reactome Protein details: Q9H6Z9
    Human Recombinant Protein Products for EGLN3: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for EGLN3
    OriGene Protein Over-expression Lysate for EGLN3
    OriGene MassSpec for EGLN3 
    OriGene Custom Protein Services for EGLN3
    GenScript Custom Purified and Recombinant Proteins Services for EGLN3
    Novus Biologicals EGLN3 Proteins
    Novus Biologicals EGLN3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for EGLN3
    Cloud-Clone Corp. Proteins for EGLN3 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12615973
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA12615973
    GO:0005829cytosol TAS--

    EGLN3 for ontologies           About GeneDecksing



    EGLN3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of EGLN3
    R&D Systems Antibodies for EGLN3 (EGLN3/PHD3)
    OriGene Antibodies for EGLN3
    OriGene Custom Antibody Services for EGLN3
    GenScript Custom Superior Antibodies Services for EGLN3
    Novus Biologicals EGLN3 Antibodies
    Abcam antibodies for EGLN3
    Cloud-Clone Corp. Antibodies for EGLN3 
    ThermoFisher Antibodies for EGLN3
    LSBio Antibodies in human, mouse, rat for EGLN3 

    Assay Products for EGLN3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EGLN3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EGLN3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EGLN3 
    Cloud-Clone Corp. CLIAs for EGLN3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR006620 Pro_4_hyd_alph
     IPR005123 Oxoglu/Fe-dep_dioxygenase

    Graphical View of Domain Structure for InterPro Entry Q9H6Z9

    ProtoNet protein and cluster: Q9H6Z9

    UniProtKB/Swiss-Prot: EGLN3_HUMAN, Q9H6Z9
    Domain: The Beta(2)beta(3) 'finger-like' loop domain is important for substrate (HIFs' CODD/NODD) selectivity
    Similarity: Contains 1 Fe2OG dioxygenase domain


    EGLN3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EGLN3_HUMAN, Q9H6Z9
    Function: Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of
    4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each
    of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also
    hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylation on the NODD site
    by EGLN3 appears to require prior hydroxylation on the CODD site. Hydroxylated HIFs are then targeted for
    proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the
    hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the
    nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN3 is the most
    important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates
    PKM in hypoxia, limiting glycolysis. Under normoxia, hydroxylates and regulates the stability of ADRB2. Regulator
    of cardiomyocyte and neuronal apoptosis. In cardiomyocytes, inhibits the anti-apoptotic effect of BCL2 by
    disrupting the BAX-BCL2 complex. In neurons, has a NGF-induced proapoptotic effect, probably through regulating
    CASP3 activity. Also essential for hypoxic regulation of neutrophilic inflammation. Plays a crucial role in DNA
    damage response (DDR) by hydroxylating TELO2, promoting its interaction with ATR which is required for activation
    of the ATR/CHK1/p53 pathway
    Catalytic activity: Hypoxia-inducible factor-L-proline + 2-oxoglutarate + O(2) = hypoxia-inducible
    factor-trans-4-hydroxy-L-proline + succinate + CO(2)
    Enzyme regulation: Activated in cardiovascular cells and Hela cells following exposure to hypoxia. Inhibited by
    polynitrogen compounds probably by chelation to Fe(2+) ions
    Induction: Induced by hypoxia in a number of cells including neutrophils and certain cancer cell lines.
    Up-regulated 10-fold in pancreatic cancers

         Enzyme Numbers (IUBMB): EC 1.14.112 EC 1.14.11.291

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI15721254
    GO:0016491oxidoreductase activity ----
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ----
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
         
    EGLN3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for EGLN3:
     Decreased cilium length after   Increased gamma-H2AX phosphory 

         15/16 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Egln3) (see all 16):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     liver/biliary system  mortality/aging  muscle  nervous system  reproductive system 

    EGLN3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EGLN3: Egln3tm1Vlcg Egln3tm1Pjr Egln3tm1Fong

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EGLN3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EGLN3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EGLN3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EGLN3 

    miRNA
    Products:
        
    miRTarBase miRNAs that target EGLN3:
    hsa-mir-122 (MIRT003110)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EGLN3
    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate EGLN3 (see all 36):
    hsa-miR-142-5p hsa-miR-607 hsa-miR-106a hsa-miR-624* hsa-miR-301a hsa-miR-218 hsa-miR-519a hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidEGLN3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EGLN3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EGLN3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EGLN3
    Sirion Biotech Customized adenovirus for overexpression of EGLN3

    Clone
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    OriGene clones in human, mouse for EGLN3 (see all 7)
    OriGene ORF clones in mouse, rat for EGLN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EGLN3 (NM_022073)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EGLN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EGLN3
    Sirion Biotech Customized lentivirus for stable overexpression of EGLN3 
                         Customized lentivirus expression plasmids for stable overexpression of EGLN3 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for EGLN3
    Search LifeMap BioReagents cell lines for EGLN3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EGLN3 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cellular response to hypoxia
    Cellular response to hypoxia0.72
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha0.72
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    Cellular responses to stress0.72
    2Development HGF signaling pathway
    Renal cell carcinoma0.30
    3HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network
    4HIF-1-alpha transcription factor network
    HIF-1-alpha transcription factor network
    5HIF-1 signaling pathway
    HIF-1 signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for EGLN3
        HIF-1-alpha transcription factor network
    HIF-2-alpha transcription factor network

    4        Reactome Pathways for EGLN3
        Cellular response to hypoxia
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Cellular responses to stress


    3         Kegg Pathways  (Kegg details for EGLN3):
        HIF-1 signaling pathway
    Pathways in cancer
    Renal cell carcinoma


    EGLN3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EGLN3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/30 Interacting proteins for EGLN3 (Q9H6Z91, 2, 3 ENSP000002504574) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIF1AQ166652, 3, ENSP000003380184MINT-50607 MINT-1957585 I2D: score=6 STRING: ENSP00000338018
    EPAS1Q998143, ENSP000002637344I2D: score=2 STRING: ENSP00000263734
    ADRB2P075503, ENSP000003053724I2D: score=1 STRING: ENSP00000305372
    SPRY2O435973, ENSP000003663064I2D: score=1 STRING: ENSP00000366306
    PRPF19Q9UMS43, ENSP000002275244I2D: score=1 STRING: ENSP00000227524
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEP--
    GO:0006915apoptotic process IEP--
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IEP--
    GO:0006974response to DNA damage stimulus IEA--
    GO:0018126protein hydroxylation IDA19584355

    EGLN3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EGLN3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EGLN3

    3 HMDB Compounds for EGLN3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    Hydroxyproline(2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid (see all 21)51-35-4--
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--

    1 DrugBank Compound for EGLN3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin CAscorbate (see all 6)50-81-7target--17139284 17016423

    4 Novoseek inferred chemical compound relationships for EGLN3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 62.6 3 12670503 (1), 12181324 (1), 18640395 (1)
    alpha-ketoglutarate 57.4 2 16565084 (1)
    oxygen 52.2 11 17684156 (2), 18927305 (2), 20028863 (1), 16473674 (1) (see all 8)
    vegf 34.5 7 17189520 (1), 19844231 (1), 19782587 (1), 19724277 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about EGLN3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EGLN3 gene: 
    NM_022073.3  

    Unigene Cluster for EGLN3:

    Egl nine homolog 3 (C. elegans)
    Hs.135507  [show with all ESTs]
    Unigene Representative Sequence: AK025273
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000250457(uc001wry.3 uc001wsa.4) ENST00000553215 ENST00000556785
    ENST00000487915 ENST00000547327 ENST00000550114 ENST00000551935 ENST00000548285
    ENST00000546681 ENST00000464521 ENST00000557521
    miRNA
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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate EGLN3 (see all 36):
    hsa-miR-142-5p hsa-miR-607 hsa-miR-106a hsa-miR-624* hsa-miR-301a hsa-miR-218 hsa-miR-519a hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidEGLN3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: EGLN3 (NM_022073)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EGLN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EGLN3
    Sirion Biotech Customized lentivirus for stable overexpression of EGLN3 
                         Customized lentivirus expression plasmids for stable overexpression of EGLN3 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EGLN3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EGLN3

    Additional mRNA sequence: 

    AJ310545.1 AK025273.1 AK026918.1 AK123350.1 AK225473.1 AK296216.1 BC010992.2 BC064924.1 
    BC102030.1 BC105938.1 BC105939.1 BC111057.1 DQ975379.1 

    10 DOTS entries:

    DT.454028  DT.100838787  DT.40292747  DT.97762717  DT.100762350  DT.95164527  DT.100774784  DT.100687766 
    DT.100758084  DT.91707851 

    24/134 AceView cDNA sequences (see all 134):

    BX346942 BU557253 CR601758 CR591195 CR609819 CR620175 BM973655 BX352880 
    BU193013 BM673361 BU845024 CD674389 CR608810 CR592368 CR611178 BM795057 
    CR623500 BC064924 CR613124 CR624750 NM_022073 CR606051 BM707515 CR625106 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for EGLN3    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c
    SP1:                    -                                       
    SP2:              -     -                                       
    SP3:                                                            


    ECgene alternative splicing isoforms for EGLN3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EGLN3 expression in normal human tissues (normalized intensities)      EGLN3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGCATCTT
    EGLN3 Expression
    About this image


    EGLN3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Limb (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod

    See EGLN3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EGLN3

    SOURCE GeneReport for Unigene cluster: Hs.135507

    UniProtKB/Swiss-Prot: EGLN3_HUMAN, Q9H6Z9
    Tissue specificity: Widely expressed at low levels. Expressed at higher levels in adult heart (cardiac myocytes,
    aortic endothelial cells and coronary artery smooth muscle), lung and placenta, and in fetal spleen, heart and
    skeletal muscle. Also expressed in pancreas. Localized to pancreatic acini and islet cells

        SABiosciences Expression via Pathway-Focused PCR Array including EGLN3: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for EGLN3 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Egln31 , 5 EGL nine homolog 3 (C. elegans)1, 5 91.91(n)1
    96.65(a)1
      12 (22.90 cM)5
    1124071  NM_028133.21  NP_082409.21 
     541789815 
    chicken
    (Gallus gallus)
    Aves EGLN31 egl nine homolog 3 (C. elegans) 82.71(n)
    89.54(a)
      423316  XM_421233.3  XP_421233.3 
    lizard
    (Anolis carolinensis)
    Reptilia EGLN36
    Uncharacterized protein
    84(a)
    1 ↔ 1
    2(55054957-55094499)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.161402 Xenopus laevis transcribed sequence with moderate similarity more 76.56(n)    BJ031971.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj78a082 Transcribed sequence with weak similarity to protein more 79.33(n)    CA496426.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hph6
    HIF prolyl hydroxylase
    23(a)
    1 → many
    3R(1082763-1094197)
    worm
    (Caenorhabditis elegans)
    Secernentea egl-96
    Protein EGL-9, isoform a
    13(a)
    1 → many
    V(10468411-10476952)


    ENSEMBL Gene Tree for EGLN3 (if available)
    TreeFam Gene Tree for EGLN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EGLN3 gene
    EGLN22  EGLN12  
    2 SIMAP similar genes for EGLN3 using alignment to 6 protein entries:     EGLN3_HUMAN (see all proteins):
    EGLN1    EGLN2

    EGLN3 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for EGLN3
    PGOHUM00000239360 PGOHUM00000247247


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/616 SNPs in EGLN3 are shown (see all 616)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1484200511,2
    --34393111(+) ACTTCA/GTCCTT 1 -- ds50010--------
    rs1924173181,2
    --34393148(+) TGTTCA/GAAAGG 1 -- ds50010--------
    rs1176628251,2
    F--34393169(+) CTGTCC/TTATCT 1 -- ds50011Minor allele frequency- T:0.03EA 120
    rs1830799541,2
    --34393252(+) ATTCAC/TAGTGG 1 -- ds50010--------
    rs1873786841,2
    --34393253(+) TTCATA/GGTGGT 1 -- ds50010--------
    rs1921504081,2
    --34393270(+) ATGACC/TTATTC 1 -- ds50010--------
    rs1425746681,2
    --34393314(+) AAAGCA/GTTCTA 1 -- ds50010--------
    rs17507081,2
    C,F,A,H--34393602(+) AGTGAG/ATAAAT 1 -- ut3128Minor allele frequency- A:0.11MN NA NS EA WA CSA 2574
    rs1849427601,2
    --34393612(+) TTACAC/TAGTAA 1 -- ut310--------
    rs714336361,2
    C--34393743(+) AAGACTA/-TATAT 1 -- ut311Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for EGLN3 (34393421 - 34643421 bp, first 250kb of EGLN3)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EGLN3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832769CNV Loss17160897
    esv34070CNV Loss18971310
    nsv832768CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606426    OMIM disorders: --

    20/22 diseases for EGLN3 (see all 22):    About MalaCards
    severe pre-eclampsia    hypoxia    pancreatic endocrine tumor    phaeochromocytoma
    pre-eclampsia    eclampsia    osteosarcoma    pheochromocytoma
    renal cell carcinoma    pancreatitis    pancreatic cancer    hepatitis b
    colon cancer    endotheliitis    hepatocellular carcinoma    colorectal cancer
    hepatitis    prostate cancer    prostatitis    melanoma


    EGLN3 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for EGLN3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteosarcoma 20.9 1 15104534 (1)
    tumors 20.2 8 19786027 (3), 20028863 (2), 18927305 (2)

    Genetic Association Database (GAD): EGLN3
    Human Genome Epidemiology (HuGE) Navigator: EGLN3 (2 documents)

    Export disorders for EGLN3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EGLN3 gene, integrated from 9 sources (see all 104):
    (articles sorted by number of sources associating them with EGLN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Differential regulation of HIF-1alpha prolyl-4-hydroxylase genes by hypoxia in human cardiovascular cells. (PubMed id 12670503)1, 2, 9 Cioffi C.L.... Bowen B.R. (2003)
    2. Oxygen-regulated beta(2)-adrenergic receptor hydroxyl ation by EGLN3 and ubiquitylation by pVHL. (PubMed id 19584355)1, 2, 9 Xie L....Stamler J.S. (2009)
    3. Differential function of the prolyl hydroxylases PHD1, PHD2, and PHD3 in the regulation of hypoxia-inducible factor. (PubMed id 15247232)1, 2, 9 Appelhoff R.J....Gleadle J.M. (2004)
    4. Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing. (PubMed id 12615973)1, 2, 9 Metzen E....Fandrey J. (2003)
    5. Characterization and comparative analysis of the EGLN gene family. (PubMed id 11574160)1, 2, 9 Taylor M.S. (2001)
    6. PHD3-dependent hydroxylation of HCLK2 promotes the DNA damage response. (PubMed id 22797300)1, 2 Xie L.... Patterson C. (2012)
    7. The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity. (PubMed id 22286099)1, 2 Foxler D.E.... Sharp T.V. (2012)
    8. Pyruvate kinase M2 is a PHD3-stimulated coactivator for hypoxia- inducible factor 1. (PubMed id 21620138)1, 2 Luo W.... Semenza G.L. (2011)
    9. Prolyl hydroxylase domain protein 3 targets Pax2 for destruction. (PubMed id 21575608)1, 2 Yan B....Fang J. (2011)
    10. The oxygen sensor PHD3 limits glycolysis under hypoxia via direct binding to pyruvate kinase. (PubMed id 21483450)1, 2 Chen N.... Frei C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 112399 HGNC: 14661 AceView: EGLN3 Ensembl:ENSG00000129521 euGenes: HUgn112399
    ECgene: EGLN3 Kegg: 112399 H-InvDB: EGLN3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EGLN3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EGLN3 gene:
    Search GeneIP for patents involving EGLN3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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