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

EGLN2 Gene

protein-coding   GIFtS: 61
GCID: GC19P041304

Egl-9 Family Hypoxia-Inducible Factor 2

(Previous names: EGL nine (C.elegans) homolog 2, egl nine homolog 2 (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 21 2     HIF-Prolyl Hydroxylase 12 3
PHD12 3 5     HIFPH12 5
Estrogen-Induced Tag 62 3     EGL Nine (C.Elegans) Homolog 21
Hypoxia-Inducible Factor Prolyl Hydroxylase 12 3     Egl Nine Homolog 2 (C. Elegans)1
Prolyl Hydroxylase Domain-Containing Protein 12 3     HIF Prolyl Hydroxylase 11
EIT62 3     Egl Nine Homolog 22
HIF-PH12 3     EC 1.14.11.293
HPH-12 3     EC 1.14.118
HPH-32 3     

External Ids:    HGNC: 146601   Entrez Gene: 1123982   Ensembl: ENSG000002698587   OMIM: 6064245   UniProtKB: Q96KS03   

Export aliases for EGLN2 gene to outside databases

Previous GC identifers: GC19P041944 GC19P041696 GC19P045981 GC19P045996 GC19P041305 GC19P037738


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

Entrez Gene summary for EGLN2 Gene:
The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal
oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an
enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript
variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS
oncogene family) gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for EGLN2 Gene: 
EGLN2 (egl-9 family hypoxia-inducible factor 2) is a protein-coding gene. Diseases associated with EGLN2 include hypoxia, and renal oncocytoma, 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 oxidoreductase 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 and oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen. An important paralog of this gene is EGLN3.

UniProtKB/Swiss-Prot: EGLN2_HUMAN, Q96KS0
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. 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. EGLN2 is involved
in regulating hypoxia tolerance and apoptosis in cardiac and skeletal muscle. Also regulates susceptibility to
normoxic oxidative neuronal death

Gene Wiki entry for EGLN2 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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EGLN2 gene promoter:
         AP-1   p300   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EGLN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for EGLN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EGLN2


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

EGLN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EGLN2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P041304:  view genomic region     (about GC identifiers)

Start:
41,304,901 bp from pter      End:
41,314,346 bp from pter
Size:
9,446 bases      Orientation:
plus 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: EGLN2_HUMAN, Q96KS0 (See protein sequence)
Recommended Name: Egl nine homolog 2  
Size: 407 amino acids; 43650 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Cofactor: Ascorbate
Subunit: Interacts (preferably isoform p40) with SIAH2; the interaction targets both SIAH2 isoforms for
proteasomal degradation in vitro. Interacts with LIMD1, WTIP and AJUBA
Subcellular location: Nucleus
Sequence caution: Sequence=AAH01723.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K5S0 Q8WWY4 Q9BV14
Alternative initiation: 2 isoforms:  Q96KS0-1   Q96KS0-2   

Explore the universe of human proteins at neXtProt for EGLN2: NX_Q96KS0

Explore proteomics data for EGLN2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96KS0

  • 4 DME Specific Peptides for EGLN2 (Q96KS0)
     TVWYFDA  GYVRHVDNP  GDGRCITCIYYLN  INGRTKAMVACYPGNG 

    EGLN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EGLN2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_444274.1  NP_542770.2  

    ENSEMBL proteins: 
     ENSP00000471568   ENSP00000307080   ENSP00000471546   ENSP00000385253   ENSP00000469686  
     ENSP00000470968   ENSP00000472146   ENSP00000469323   ENSP00000469272   ENSP00000472870  
     ENSP00000472991   ENSP00000472414   ENSP00000471944   ENSP00000471740  
    Reactome Protein details: Q96KS0
    Human Recombinant Protein Products for EGLN2: 
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    Novus Biologicals EGLN2 Protein
    Novus Biologicals EGLN2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EGLN2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol IEA--

    EGLN2 for ontologies           About GeneDecksing



    EGLN2 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for EGLN2 
    Cloud-Clone Corp. CLIAs for EGLN2


    (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 Q96KS0

    ProtoNet protein and cluster: Q96KS0

    UniProtKB/Swiss-Prot: EGLN2_HUMAN, Q96KS0
    Domain: The Beta(2)beta(3) 'finger-like' loop domain is important for substrate (HIFs' CODD/NODD) selectivity (By
    similarity)
    Similarity: Contains 1 Fe2OG dioxygenase domain


    EGLN2 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: EGLN2_HUMAN, Q96KS0
    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. 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. EGLN2 is involved
    in regulating hypoxia tolerance and apoptosis in cardiac and skeletal muscle. Also regulates susceptibility to
    normoxic oxidative neuronal death
    Catalytic activity: Hypoxia-inducible factor-L-proline + 2-oxoglutarate + O(2) = hypoxia-inducible
    factor-trans-4-hydroxy-L-proline + succinate + CO(2)
    Induction: By estrogen. Isoform p43 is induced by hypoxia leading to protein stability. Isoform p40 repressed by
    hypoxia. Both isoforms are induced by proteasomal inhibitor MG132 (at protein level)

         Enzyme Numbers (IUBMB): EC 1.14.112 EC 1.14.11.291

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding ----
    GO:0005515protein binding IPI--
    GO:0008198ferrous iron binding NAS12039559
    GO:0016491oxidoreductase activity ----
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ----
         
    EGLN2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for EGLN2:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Increased HPV18 LCR reporter a 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Egln2):
     cardiovascular system  cellular  craniofacial  embryogenesis  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 
     muscle  reproductive system 

    EGLN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EGLN2: Egln2tm1Fong Egln2tm1Pec

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EGLN2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EGLN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EGLN2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EGLN2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EGLN2
    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate EGLN2 (see all 36):
    hsa-miR-3194-5p hsa-let-7d hsa-miR-15a hsa-miR-765 hsa-miR-578 hsa-miR-3921 hsa-let-7g hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidEGLN2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): EGLN2 (NM_053046)
    Sino Biological Human cDNA Clone for EGLN2
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                         Customized lentivirus expression plasmids for stable overexpression of EGLN2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN2


    (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 EGLN2 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
    3HIF1Alpha Pathway
    HIF1Alpha Pathway
    4HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network
    5HIF-1 signaling pathway
    HIF-1 signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for EGLN2
        HIF1Alpha Pathway

    1 BioSystems Pathway for EGLN2
        HIF-2-alpha transcription factor network


    4        Reactome Pathways for EGLN2
        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 EGLN2):
        HIF-1 signaling pathway
    Pathways in cancer
    Renal cell carcinoma


    EGLN2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EGLN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/24 Interacting proteins for EGLN2 (Q96KS02, 3 ENSP000003070804) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MOB4Q9Y3A32, 3, ENSP000003157024MINT-65838 I2D: score=4 STRING: ENSP00000315702
    HIF1AQ166652, 3, ENSP000003380184MINT-50605 MINT-1957493 I2D: score=4 STRING: ENSP00000338018
    EPAS1Q998143, ENSP000002637344I2D: score=2 STRING: ENSP00000263734
    EGLN3Q9H6Z93, ENSP000002504574I2D: score=1 STRING: ENSP00000250457
    HIF3AQ9Y2N73, ENSP000003668984I2D: score=1 STRING: ENSP00000366898
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth NAS11850811
    GO:0001666response to hypoxia IDA11595184
    GO:0018401peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA11598268
    GO:0030520intracellular estrogen receptor signaling pathway NAS11850811
    GO:0043523regulation of neuron apoptotic process IMP19587290

    EGLN2 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

    EGLN2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for EGLN2

    3 HMDB Compounds for EGLN2    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 EGLN2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin CAscorbate (see all 6)50-81-7target--17627521 17627474

    5 Novoseek inferred chemical compound relationships for EGLN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-ketoglutarate 74.9 2 16565084 (1)
    proline 60.7 4 12670503 (1), 16139409 (1), 12181324 (1), 16024780 (1)
    oxygen 49.5 10 18927305 (2), 16139409 (1), 18252725 (1), 18952043 (1) (see all 8)
    vegf 28.6 4 17189520 (1), 19844231 (1), 19724277 (1), 16278385 (1)
    iron 23.5 4 19587290 (2), 16139409 (1)

    Search CenterWatch for drugs/clinical trials and news about EGLN2

    (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 EGLN2 gene (3 alternative transcripts): 
    NM_053046.3  NM_080732.3  NM_017555.1  

    Unigene Cluster for EGLN2:

    Egl nine homolog 2 (C. elegans)
    Hs.515417  [show with all ESTs]
    Unigene Representative Sequence: AK098182
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598654 ENST00000303961(uc002opg.4) ENST00000593972 ENST00000406058(uc010ehd.3 uc002oph.3 uc002opi.3)
    ENST00000593726 ENST00000594380 ENST00000593397 ENST00000601733 ENST00000593525
    ENST00000596517 ENST00000597746 ENST00000594140 ENST00000599579 ENST00000593445
    ENST00000593477 ENST00000602166 ENST00000595621 ENST00000595051
    miRNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EGLN2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EGLN2

    Additional mRNA sequence: 

    AJ310544.1 AK025396.1 AK074408.1 AK098182.1 AL832506.1 AY040565.1 BC001723.1 BC036051.1 

    24/27 DOTS entries (see all 27):

    DT.92441133  DT.319170  DT.80101241  DT.100797609  DT.121503438  DT.100797605  DT.121503399  DT.40107736 
    DT.121503431  DT.121503467  DT.100734329  DT.97850158  DT.91837365  DT.121503449  DT.121503474  DT.91920823 
    DT.95233260  DT.100797608  DT.121503477  DT.92441136  DT.95233206  DT.95233266  DT.102836901  DT.121503367 

    24/536 AceView cDNA sequences (see all 536):

    AI349566 BU168469 AW589678 W21166 AL832506 BM559500 BU553652 AI220959 
    AI084234 AI028027 AW167542 BQ067370 BM833977 BX281760 AL133009 AK025396 
    BM423651 CA454230 AI479073 AI110596 BX642362 F30667 BQ689426 AI141555 

    GeneLoc Exon Structure


    (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

    EGLN2 expression in normal human tissues (normalized intensities)      EGLN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTGTGGAAG
    EGLN2 Expression
    About this image


    EGLN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)
             Ureteric Bud Cells Ureteric Bud
     
     Testis (Reproductive System)

    See EGLN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EGLN2

    SOURCE GeneReport for Unigene cluster: Hs.515417

    UniProtKB/Swiss-Prot: EGLN2_HUMAN, Q96KS0
    Tissue specificity: Expressed in adult and fetal heart, brain, liver, lung, skeletal muscle, and kidney. Also
    expressed in testis and placenta. Highest levels in adult brain, placenta, lung, kidney, and testis. Expressed in
    hormone responsive tissues, including normal and cancerous mammary, ovarian and prostate epithelium

        SABiosciences Expression via Pathway-Focused PCR Array including EGLN2: 
              Hypoxia Signaling Pathway in human mouse rat

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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 EGLN2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Egln21 , 5 EGL nine homolog 2 (C. elegans)1, 5 88.56(n)1
    91.36(a)1
      7 (15.83 cM)5
    1124061  NM_053208.41  NP_444438.21 
     271586585 
    lizard
    (Anolis carolinensis)
    Reptilia EGLN26
    Uncharacterized protein
    73(a)
    1 ↔ 1
    LGf(2876578-2893177)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.320752 Xenopus laevis transcribed sequence with moderate similarity more 75.94(n)    BX845672.1 
    zebrafish
    (Danio rerio)
    Actinopterygii egln26
    egl nine homolog 2 (C. elegans)
    40(a)
    1 ↔ 1
    15(8410022-8457419)
    fruit fly
    (Drosophila melanogaster)
    Insecta Hph6
    HIF prolyl hydroxylase
    25(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 EGLN2 (if available)
    TreeFam Gene Tree for EGLN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EGLN2 gene
    EGLN32  EGLN12  
    2 SIMAP similar genes for EGLN2 using alignment to 12 protein entries:     EGLN2_HUMAN (see all proteins):
    EGLN3    EGLN1

    EGLN2 for paralogs           About GeneDecksing



    (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
    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EGLN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833832CNV Loss17160897
    nsv521459CNV Loss19592680
    dgv1084e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): EGLN2
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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: 606424    OMIM disorders: --

    20/23 diseases for EGLN2 (see all 23):    About MalaCards
    hypoxia    renal oncocytoma    autoimmune polyendocrine syndrome    severe pre-eclampsia
    pancreatic endocrine tumor    pre-eclampsia    phaeochromocytoma    eclampsia
    renal clear cell carcinoma    nasopharyngitis    renal cell carcinoma    hepatitis b
    colon cancer    hepatocellular carcinoma    pancreatitis    endotheliitis
    melanoma    hepatitis    prostatitis    prostate cancer

    1 disease from the University of Copenhagen DISEASES database for EGLN2:
    Autoimmune polyendocrine syndrome

    EGLN2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for EGLN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 21.2 5 18927305 (2), 16324198 (1), 17683079 (1)

    Genetic Association Database (GAD): EGLN2
    Human Genome Epidemiology (HuGE) Navigator: EGLN2 (2 documents)

    Export disorders for EGLN2 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 EGLN2 gene, integrated from 9 sources (see all 101):
    (articles sorted by number of sources associating them with EGLN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Role of the intracellular localization of HIF-prolyl hydroxylases. (PubMed id 19339211)1, 2, 9 Yasumoto K....Sogawa K. (2009)
    2. Cellular oxygen sensing: Importins and exportins are mediators of intracellular localisation of prolyl-4-hydroxylases PHD1 and PHD2. (PubMed id 19631610)1, 2, 9 Steinhoff A....Depping R. (2009)
    3. Characterization of different isoforms of the HIF prolyl hydroxylase PHD1 generated by alternative initiation. (PubMed id 16509823)1, 2, 9 Tian Y.M.... Gleadle J.M. (2006)
    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. 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)
    6. 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)
    7. Genome-wide meta-analyses identify multiple loci asso ciated with smoking behavior. (PubMed id 20418890)1, 4 (2010)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. The use of dioxygen by HIF prolyl hydroxylase (PHD1). (PubMed id 12039559)1, 2 McNeill L.A.... Schofield C.J. (2002)

    (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: 112398 HGNC: 14660 AceView: EGLN2andCYP2B7 Ensembl:ENSG00000269858 euGenes: HUgn112398
    ECgene: EGLN2 Kegg: 112398 H-InvDB: EGLN2

    (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 EGLN2 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 EGLN2 gene:
    Search GeneIP for patents involving EGLN2

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



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