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

EGLN2 Gene

protein-coding   GIFtS: 63
GCID: GC19P041305

egl nine homolog 2 (C. elegans)

(Previous name: EGL nine (C.elegans) homolog 2 )
 Explore 21 diseases affiliated with
EGLN2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EGLN2    

Aliases
for EGLN2 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 2 (C. Elegans)1 2     HPH-12 3
PHD11 2 3 5     HPH-32 3
HIFPH11 2 5     HIF-Prolyl Hydroxylase 12 3
Estrogen-Induced Tag 62 3     EGL Nine (C.Elegans) Homolog 21
Hypoxia-Inducible Factor Prolyl Hydroxylase 12 3     Egl Nine Homolog 22
Prolyl Hydroxylase Domain-Containing Protein 12 3     EC 1.14.11.293
EIT62 3     EC 1.14.118
HIF-PH12 3     

External Ids:    HGNC: 146601   Entrez Gene: 1123982   Ensembl: ENSG000001715707   OMIM: 6064245   UniProtKB: Q96KS03   

Export aliases for EGLN2 gene to outside databases

Previous GC identifers: GC19P041944 GC19P041696 GC19P045981 GC19P045996 GC19P037738


Summaries
for EGLN2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
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 GC19P041305:  view genomic region     (about GC identifiers)

Start:
 41,305,048 bp from pter      End:
 41,314,337 bp from pter
Size:
 9,290 bases      Orientation:
 plus strand

Proteins
for EGLN2 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96KS0

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

    EGLN2 Protein expression data from MOPED and PaxDb:    About this image 
    EGLN2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_444274.1  NP_542770.2  

    ENSEMBL proteins: 
     ENSP00000307080   ENSP00000385253  
    Reactome Protein details: Q96KS0
    Human Recombinant Protein Products for EGLN2: 
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    OriGene Protein Over-expression Lysate (see all 2): EGLN2
    OriGene Custom Protein Services for EGLN2 
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    Novus Biologicals EGLN2 Protein
    Novus Biologicals EGLN2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EGLN2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    EGLN2 for ontologies           About GeneDecksing



    EGLN2 Antibody Products: 
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    Novus Biologicals EGLN2 Antibodies
    Abcam antibodies for EGLN2 
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    Uscn ELISAs and CLIAs for EGLN2

    Protein Domains /
    Families
    for EGLN2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EGLN2 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 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


    Function
    for EGLN2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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 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 IDA11595184
         
    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:
         Mouse knock-outs for EGLN2: Egln2tm1Fong Egln2tm1Pec
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions 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 plasmid: EGLN2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EGLN2 (see all 7)
    OriGene shRNA RFP: EGLN2
    OriGene siRNA: EGLN2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EGLN2
    Sirion Biotech Custom design and validation of potent shRNA sequences against EGLN2 

    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN2


    Pathways & Interactions
    for EGLN2 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
    2HIF1Alpha Pathway
    		HIF1Alpha Pathway1.00
    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

    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


    2         Kegg Pathways  (Kegg details for EGLN2):
        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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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:0033554cellular response to stress TAS--

    EGLN2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EGLN2 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

    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 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 

    Transcripts
    for EGLN2 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, Sirion Biotech, 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 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
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303961(uc002opg.4) ENST00000406058(uc010ehd.3 uc002oph.3 uc002opi.3)


    miRNA
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    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 plasmid: EGLN2 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 EGLN2 (see all 7)
    OriGene shRNA RFP: EGLN2
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    Sirion Biotech Custom design and validation of potent shRNA sequences against EGLN2 
    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EGLN2 
    Primer
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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 cDNA sequence: 

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

    24/28 DOTS entries (see all 28):

    DT.92441133  DT.319170  DT.80101241  DT.100797609  DT.121503438  DT.100797605  DT.121503399  DT.100734329 
    DT.121503467  DT.40107736  DT.121503431  DT.97850158  DT.121503449  DT.91837365  DT.121503474  DT.91920823 
    DT.95233260  DT.100797608  DT.121503455  DT.121503477  DT.92441136  DT.95233206  DT.95233266  DT.102836901 

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

    AI141555 BQ688009 AI110596 BF940551 AI349566 CA426400 AJ310544 AA312497 
    BQ691651 BM423651 F30667 BE882327 BG034561 BM912250 BX642362 BF339491 
    AA829509 AI652874 AL708466 BX479819 BM559500 AW176373 AI393282 BX281760 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for EGLN2 (see all 14)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f · 5g ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d
    SP1:        -     -     -     -     -     -                                               -     -     -           -                                       
    SP2:              -     -     -     -     -                                               -     -     -           -                                       
    SP3:                                                                                      -     -     -           -                                       
    SP4:                                                                                            -     -           -                                       
    SP5:                                                                                                              -                                       


    ECgene alternative splicing isoforms for EGLN2

    Expression
    for EGLN2 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

    EGLN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGTGTGGAAG
    EGLN2 Expression
    About this image

    EGLN2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyUreteric BudUreteric Bud CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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    In Situ
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    Orthologs
    for EGLN2 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 EGLN2 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia MIA6
    		 --
    		 90(a)
    		 1 → many
    		 LGf(2855521-2864702)
    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 rab4b6
    		 RAB4B, member RAS oncogene family
    		 92(a)
    		 1 → many
    		 15(8949071-8991707)
    fruit fly
    (Drosophila melanogaster)    		 Insecta Rab46
    		 Rab-protein 4
    		 76(a)
    		 1 → many
    		 2R(13460964-13462484)


    ENSEMBL Gene Tree for EGLN2 (if available)
    TreeFam Gene Tree for EGLN2 (if available) 

    Paralogs
    for EGLN2 gene

    (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



    Genomic Variants
    for EGLN2 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

    10/219 NCBI SNPs in EGLN2 are shown (see all 219)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1451921101,2
    		--41303372(+) GCTCAC/TGTGTG 3 -- int1 us2k10--------
    rs1812258001,2
    		--41303545(+) TGGGAC/TATCAA 3 -- int1 us2k10--------
    rs104159731,2
    		C,F,H--41303668(+) CCCGAG/AGTCTG 3 -- us2k1 int110Minor allele frequency- A:0.04NS EA NA WA 1310
    rs1861997721,2
    		--41303673(+) GGTCTA/GTGTGT 3 -- us2k1 int10--------
    rs1890607501,2
    		--41303718(+) ATGTGG/TGGCCA 3 -- int1 us2k10--------
    rs1143615911,2
    		F--41303832(+) ACCCTA/GTCTAC 3 -- int1 us2k11Minor allele frequency- G:0.03WA 118
    rs1824590221,2
    		--41303883(+) CACACC/GTGAAG 3 -- int1 us2k10--------
    rs803103381,2
    		C--41303976(+) CACTTC/AAGCCT 3 -- int1 us2k11Minor allele frequency- A:0.50WA 2
    rs1476160621,2
    		--41304026(+) ACTAGA/CAACAC 3 -- int1 us2k10--------
    rs1906580971,2
    		--41304041(+) GTGTGA/GCCATG 3 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for EGLN2 (41305048 - 41314337 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for EGLN2
         2 CNVs: 4081 5100

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    Disorders / Diseases
    for EGLN2 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
    EGLN2 for disorders           About GeneDecksing

    OMIM gene information: 606424    OMIM disorders: --

    20/21 diseases for EGLN2 (see all 21):    About MalaCards
    hypoxia    pre-eclampsia    severe pre-eclampsia    autoimmune polyendocrine syndrome
    renal clear cell carcinoma    renal oncocytoma    pancreatic endocrine tumors    eclampsia
    renal cell carcinoma    hepatitis b    hepatocellular carcinoma    colon cancer
    nasopharyngitis    carcinoma    breast carcinoma    prostate cancer
    pancreatitis    hepatitis    prostatitis    melanoma

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

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: EGLN2 (2 documents)

    Export disorders for EGLN2 gene to outside databases

    Publications
    for EGLN2 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 EGLN2 gene, integrated from 9 sources (see all 95):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. The use of dioxygen by HIF prolyl hydroxylase (PHD1). (PubMed id 12039559)1, 2 McNeill L.A.... Schofield C.J. (2002)
    10. Novel estrogen and tamoxifen induced genes identified by SAGE (Serial Analysis of Gene Expression). (PubMed id 11850811)1, 2 Seth P.... Polyak K. (2002)

    External Searches for EGLN2 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 EGLN2 gene

    (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:ENSG00000171570 euGenes: HUgn112398
    ECgene: EGLN2 Kegg: 112398 H-InvDB: EGLN2

    Other Databases showing EGLN2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EGLN2 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 EGLN2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for EGLN2 gene

    (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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    About This Section

     
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