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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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Egl-9 Family Hypoxia-Inducible Factor 31 2     HIFP4H32 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     HIFPH32
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   
ORGUL members:         

Export aliases for EGLN3 gene to outside databases

Previous GC identifers: GC14M031770 GC14M028180 GC14M032383 GC14M033463 GC14M014510


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EGLN3 Gene:
EGLN3 (egl-9 family hypoxia-inducible factor 3) is a protein-coding gene. Diseases associated with EGLN3 include hypoxia, and phaeochromocytoma. GO annotations related to this gene include peptidyl-proline 4-dioxygenase activity 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. Target proteins are preferencially recognized via a LXXLAP motif

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   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 Chromatin IP Primers for EGLN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for EGLN3 (Q9H6Z9) (see all 6)
     TVWYFDA  ALEYIVPC  RGDQITWI  GYVRHVDNP 


    See EGLN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071356.1  
    ENSEMBL proteins: 
     ENSP00000250457   ENSP00000447470   ENSP00000451316   ENSP00000446572  
    Reactome Protein details: Q9H6Z9

    EGLN3 Human Recombinant Protein Products:

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    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

    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
    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

    EGLN3 Assay Products:

    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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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. Target proteins are preferencially recognized via a LXXLAP motif
    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): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI15721254
    GO:0016491oxidoreductase activity ----
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0016706oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors ----
         
    EGLN3 for ontologies           About GeneDecksing


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

         Selected 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: Let us create your new Knockout/Knockin mouse model for EGLN3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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-23a-3p (MIRT050427), hsa-mir-122-5p (MIRT003110), hsa-let-7i-5p (MIRT046547), hsa-mir-19b-3p (MIRT031128), hsa-mir-93-5p (MIRT028026), hsa-mir-130b-3p (MIRT020155), hsa-mir-18a-3p (MIRT040873), hsa-mir-98-5p (MIRT027522), hsa-mir-20a-5p (MIRT006289)

    Block miRNA regulation of human, mouse, rat EGLN3 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for EGLN3
    Predesigned siRNA for gene silencing in human, mouse, rat EGLN3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EGLN3

    Clone
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    OriGene clones in human, mouse for EGLN3 (see all 6)
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    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

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EGLN3_HUMAN, Q9H6Z9: Nucleus. Cytoplasm. Note=Colocalizes with WDR83 in the cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for EGLN3 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen1.00
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha0.00
    Cellular response to hypoxia1.00
    2Cellular Senescence
    Cellular responses to stress0.81
    3Renal cell carcinoma
    Renal cell carcinoma
    4Pathways in cancer
    Pathways in cancer
    5HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 Reactome Pathway for EGLN3
        Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha


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


    EGLN3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including EGLN3: 
              Neurotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EGLN3

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

    Selected Interacting proteins for EGLN3 (Q9H6Z91, 2, 3 ENSP000002504574) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIF1AQ166651, 2, 3, ENSP000003380184EBI-1175354,EBI-447269 MINT-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): Selected biological process terms (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:0006974cellular response 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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    EGLN3 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Selected qRT-PCR 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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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EGLN3 (NM_022073)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EGLN3
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat EGLN3
      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 

    Selected AceView cDNA sequences (see all 134):

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

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EGLN3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 10) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
    EGLN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EGLN3 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for EGLN3 gene from Selected species (see all 17)    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_421233.4  XP_421233.3 
    lizard
    (Anolis carolinensis)
    Reptilia EGLN36
    egl-9 family hypoxia-inducible factor 3
    85(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
    22(a)
    1 → many
    3R(1082763-1094197)
    worm
    (Caenorhabditis elegans)
    Secernentea egl-96
    Protein EGL-9, isoform a (egl-9) mRNA, complete cd...
    13(a)
    1 → many
    V(10468411-10476952) WBGene00001178


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EGLN3 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EGLN3
    DNA2.0 Custom Variant and Variant Library Synthesis for EGLN3

    (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.)
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    OMIM gene information: 606426    OMIM disorders: --

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


    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)
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    PubMed articles for EGLN3 gene, integrated from 10 sources (see all 108):
    (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. (Biochem. Biophys. Res. Commun. 2003)
    2. Oxygen-regulated beta(2)-adrenergic receptor hydroxylation by EGLN3 and ubiquitylation by pVHL. (PubMed id 19584355)1, 2, 9 Xie L.... Stamler J.S. (Sci. Signal. 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. (J. Biol. Chem. 2004)
    4. Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing. (PubMed id 12615973)1, 2, 9 Metzen E.... Fandrey J. (J. Cell Sci. 2003)
    5. Characterization and comparative analysis of the EGLN gene family. (PubMed id 11574160)1, 2, 9 Taylor M.S. (Gene 2001)
    6. PHD3-dependent hydroxylation of HCLK2 promotes the DNA damage response. (PubMed id 22797300)1, 2 Xie L.... Patterson C. (J. Clin. Invest. 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. (Nat. Cell Biol. 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. (Cell 2011)
    9. Prolyl hydroxylase domain protein 3 targets Pax2 for destruction. (PubMed id 21575608)1, 2 Yan B....Fang J. (Biochem. Biophys. Res. Commun. 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. (Cell Res. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 112399 HGNC: 14661 AceView: EGLN3 Ensembl:ENSG00000129521 euGenes: HUgn112399
    ECgene: EGLN3 Kegg: 112399 H-InvDB: EGLN3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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