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

EGLN3 Gene

protein-coding   GIFtS: 64
GCID: GC14M034393

egl nine homolog 3 (C. elegans)

(Previous name: EGL nine (C.elegans) homolog 3 )
 Explore 21 diseases affiliated with
EGLN3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EGLN3    

Aliases
for EGLN3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Egl Nine Homolog 3 (C. Elegans)1 2     HIF-Prolyl Hydroxylase 32 3
PHD31 2 3 5     EGL Nine (C.Elegans) Homolog 31
HIFPH31 2 5     HIFP4H32
Hypoxia-Inducible Factor Prolyl Hydroxylase 32 3     Egl Nine Homolog 32
Prolyl Hydroxylase Domain-Containing Protein 32 3     Egl Nine-Like Protein 3 Isoform2
HIF-PH32 3     HIF Prolyl Hydroxylase 32
HPH-12 3     EC 1.14.11.293
HPH-32 3     EC 1.14.118

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


Summaries
for EGLN3 gene

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  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

Proteins
for EGLN3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_071356.1  
    ENSEMBL proteins: 
     ENSP00000250457   ENSP00000447470   ENSP00000451316   ENSP00000446572   ENSP00000444822  
    Reactome Protein details: Q9H6Z9
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: EGLN3
    OriGene Protein Over-expression Lysate: 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
    ProSpec Recombinant Protein for EGLN3
    Uscn 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 (see all 4): EGLN3
    OriGene Custom Antibody Services for EGLN3 
    GenScript Custom Superior Antibodies Services for EGLN3
    Novus Biologicals EGLN3 Antibodies
    Search for Antibodies for EGLN3 at Abcam  
    Uscn Antibodies for EGLN3
    ThermoFisher Antibodies for EGLN3

    Assay Products for EGLN3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EGLN3
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for EGLN3

    Protein Domains /
    Families
    for EGLN3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EGLN3 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    Function
    for EGLN3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

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

    OriGene 3'-UTR Clone: EGLN3
    Browse MicroRNA Expression Plasmids
    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 plasmid: EGLN3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EGLN3 (see all 7)
    OriGene siRNA: EGLN3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EGLN3

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EGLN3 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 

    Cell Line
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    Search LifeMap BioReagents cell lines for EGLN3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN3

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA--
    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 ----
    GO:0031418L-ascorbic acid binding IEA--


    EGLN3 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for EGLN3: Egln3tm1Vlcg Egln3tm1Pjr Egln3tm1Fong
         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


    Pathways & Interactions
    for EGLN3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha
    		Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha1.00
    		Cellular response to hypoxia0.72
    		Cellular responses to stress0.72
    		Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    2HIF-1-alpha transcription factor network
    		HIF-1-alpha transcription factor network1.00
    3HIF-2-alpha transcription factor network
    		HIF-2-alpha transcription factor network1.00
    4Renal cell carcinoma
    		Renal cell carcinoma1.00
    5Pathways in cancer
    		Pathways in cancer1.00

    Pathway sources
    See GeneCards unified pathways
    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


    2         Kegg Pathways  (Kegg details for EGLN3):
        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)

    5/31 Interacting proteins for EGLN3 (Q9H6Z91, 2, 3 ENSP000002504574) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIF1AQ166652, 3, ENSP000003380184MINT-50607 MINT-1957585 I2D: score=6 STRING: ENSP00000338018
    RAB4B-EGLN2Q96KS03, ENSP000003070804I2D: score=1 STRING: ENSP00000307080
    EPAS1Q998143, ENSP000002637344I2D: score=2 STRING: ENSP00000263734
    ADRB2P075503, ENSP000003053724I2D: score=1 STRING: ENSP00000305372
    EGLN2Q96KS03I2D: score=1 
    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



    Drugs & Compounds
    for EGLN3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for EGLN3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    12 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 ENST00000539567

    miRNA
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    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 plasmid: EGLN3 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EGLN3 (see all 7)
    OriGene siRNA: EGLN3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EGLN3
    Clone
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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 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EGLN3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EGLN3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EGLN3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EGLN3

    Additional cDNA 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):

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

    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

    Expression
    for EGLN3 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTGCATCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    EGLN3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Paraxial Mesoderm CellsBone, Skeletal Muscle
    LiverLiver LobulePerivenous HepatocytesLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
              Neurotoxicity in human mouse rat

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    Orthologs
    for EGLN3 gene

    (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 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 85(a)
    		 1 ↔ 1
    		 2(55055544-55094439)
    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
    		 EGg Laying defective family member (egl-9)
    		 12(a)
    		 1 → many
    		 V(10468388-10476929)


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

    Paralogs
    for EGLN3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EGLN3 gene
    RAB4B-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


    Genomic Variants
    for EGLN3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/517 NCBI SNPs in EGLN3 are shown (see all 517)     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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for EGLN3
         1 CNV: 47862

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    Disorders / Diseases
    for EGLN3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EGLN3 for disorders           About GeneDecksing

    OMIM gene information: 606426    OMIM disorders: --

    20/21 diseases for EGLN3 (see all 21):    About MalaCards
    pre-eclampsia    severe pre-eclampsia    hypoxia    pancreatic endocrine tumors
    eclampsia    renal cell carcinoma    osteosarcoma    hepatitis b
    pheochromocytoma    hepatocellular carcinoma    pancreatitis    colon cancer
    pancreatic cancer    breast carcinoma    colorectal cancer    carcinoma
    prostate cancer    hepatitis    fibrosis    prostatitis

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: EGLN3 (2 documents)

    Export disorders for EGLN3 gene to outside databases

    Publications
    for EGLN3 gene

    (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 97):
    (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)

    External Searches for EGLN3 gene

    (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)

    Genome Databases showing EGLN3 gene

    (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

    Other Databases showing EGLN3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EGLN3 gene

    (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

    Intellectual Property
    for EGLN3 gene

    (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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