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

EPAS1 Gene

protein-coding   GIFtS: 67
GCID: GC02P046436

Endothelial PAS Domain Protein 1

Microbiology & Infectious Diseases Congress
  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
Endothelial PAS Domain Protein 11 2     PASD22 3
HIF2A2 3 5     bHLHe732 3
MOP22 3 5     HIF-1-Alpha-Like Factor2 3
Basic-Helix-Loop-Helix-PAS Protein MOP22 3     PAS Domain-Containing Protein 22 3
Class E Basic Helix-Loop-Helix Protein 732 3     ECYT42 5
Hypoxia-Inducible Factor 2-Alpha2 3     HIF-1 Alpha-Like Factor1
Member Of PAS Protein 22 3     Endothelial PAS Domain-Containing Protein 12
EPAS-12 3     HIF-1alpha-Like Factor2
HIF-2-alpha2 3     Hypoxia-Inducible Factor 2 Alpha2
HIF2-alpha2 3     BHLHE733
HLF2 3     

External Ids:    HGNC: 33741   Entrez Gene: 20342   Ensembl: ENSG000001160167   OMIM: 6033495   UniProtKB: Q998143   

Export aliases for EPAS1 gene to outside databases

Previous GC identifers: GC02P046542 GC02P046693 GC02P046499 GC02P046262


(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 EPAS1 Gene:
This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced
as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain
as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations
in this gene are associated with erythrocytosis familial type 4. (provided by RefSeq, Nov 2009)

GeneCards Summary for EPAS1 Gene: 
EPAS1 (endothelial PAS domain protein 1) is a protein-coding gene. Diseases associated with EPAS1 include familial erythrocytosis 4, and multiple paragangliomas associated with polycythemia, and among its related super-pathways are Cellular response to hypoxia and Development PDGF signaling via STATs and NF-kB. GO annotations related to this gene include sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is ARNT2.

UniProtKB/Swiss-Prot: EPAS1_HUMAN, Q99814
Function: Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence
5'-[AG]CGTG-3' within the hypoxia response element (HRE) of target gene promoters. Regulates the vascular
endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and
the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood
brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation seems to require recruitment
of transcriptional coactivators such as CREBPB and probably EP300. Interaction with redox regulatory protein APEX
seems to activate CTAD

Gene Wiki entry for EPAS1 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_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPAS1 gene promoter:
         HEN1   PPAR-gamma1   Sp1   HNF-1   IRF-1   PPAR-gamma2   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EPAS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EPAS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPAS1


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

Entrez Gene cytogenetic band: 2p21-p16   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21-p16

EPAS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPAS1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P046436:  view genomic region     (about GC identifiers)

Start:
46,520,806 bp from pter      End:
46,613,842 bp from pter
Size:
93,037 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: EPAS1_HUMAN, Q99814 (See protein sequence)
Recommended Name: Endothelial PAS domain-containing protein 1  
Size: 870 amino acids; 96459 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Heterodimerizes with ARNT.
Interacts with CREBBP (By similarity). Interacts with EGLN1. Interacts with VHL
Subcellular location: Nucleus (Potential)
6/9 PDB 3D structures from and Proteopedia for EPAS1 (see all 9):
1P97 (3D)        2A24 (3D)        3F1N (3D)        3F1O (3D)        3F1P (3D)        3H7W (3D)    
Secondary accessions: Q86VA2 Q99630

Explore the universe of human proteins at neXtProt for EPAS1: NX_Q99814

Explore proteomics data for EPAS1 at MOPED 

Post-translational modifications:

  • UniProtKB: In normoxia, is probably hydroxylated on Pro-405 and Pro-531 by EGLN1/PHD1, EGLN2/PHD2 and/or EGLN3/PHD3. The
    hydroxylated prolines promote interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal
    degradation. Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in
    stabilization (By similarity)
  • UniProtKB: In normoxia, is hydroxylated on Asn-847 by HIF1AN thus probably abrogating interaction with CREBBP and EP300 and
    preventing transcriptional activation (By similarity)
  • UniProtKB: Phosphorylated on multiple sites in the CTAD (By similarity)
  • UniProtKB: The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains
    (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99814

  • EPAS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EPAS1 Protein Expression
    REFSEQ proteins: NP_001421.2  
    ENSEMBL proteins: 
     ENSP00000406137   ENSP00000263734  
    Reactome Protein details: Q99814
    Human Recombinant Protein Products for EPAS1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for EPAS1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for EPAS1
    GenScript Custom Purified and Recombinant Proteins Services for EPAS1
    Novus Biologicals EPAS1 Proteins
    Novus Biologicals EPAS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IPI9576906
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    EPAS1 for ontologies           About GeneDecksing



    EPAS1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of EPAS1
    R&D Systems Antibodies for EPAS1 (HIF-2 alpha/EPAS1)
    Cell Signaling Technology (CST) Antibodies for EPAS1  (HIF2A)
    OriGene Antibodies for EPAS1
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    GenScript Custom Superior Antibodies Services for EPAS1
    Novus Biologicals EPAS1 Antibodies
    Abcam antibodies for EPAS1
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for EPAS1
    LSBio Antibodies in human, mouse, rat for EPAS1 

    Assay Products for EPAS1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EPAS1
    R&D Systems ELISAs for EPAS1 (HIF-2 alpha/EPAS1)         (see all)
    GenScript Custom Assay Services for EPAS1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bHLH: Basic helix-loop-helix proteins

    5/8 InterPro protein domains (see all 8):
     IPR001610 PAC
     IPR013767 PAS_fold
     IPR000014 PAS
     IPR011598 bHLH_dom
     IPR001067 Nuc_translocat

    Graphical View of Domain Structure for InterPro Entry Q99814

    ProtoNet protein and cluster: Q99814

    4 Blocks protein domains:
    IPB000014 PAS domain
    IPB001067 Nuclear translocator signature
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB013655 PAS fold-3


    UniProtKB/Swiss-Prot: EPAS1_HUMAN, Q99814
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
    Similarity: Contains 2 PAS (PER-ARNT-SIM) domains


    EPAS1 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: EPAS1_HUMAN, Q99814
    Function: Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence
    5'-[AG]CGTG-3' within the hypoxia response element (HRE) of target gene promoters. Regulates the vascular
    endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and
    the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood
    brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation seems to require recruitment
    of transcriptional coactivators such as CREBPB and probably EP300. Interaction with redox regulatory protein APEX
    seems to activate CTAD

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding IGI9000051
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding IPI17024177
         
    EPAS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EPAS1:
     Increased circadian period len 

         13 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Epas1):
     cardiovascular system  embryogenesis  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  muscle  nervous system 
     respiratory system  skeleton  vision/eye 

    EPAS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EPAS1: Epas1tm1Pec Epas1tm1Yfk Epas1tm1.1Mcs

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EPAS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EPAS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPAS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EPAS1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPAS1
    8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate EPAS1 (see all 53):
    hsa-miR-142-5p hsa-miR-520f hsa-miR-631 hsa-miR-99b* hsa-miR-199a-3p hsa-miR-548k hsa-miR-938 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidEPAS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EPAS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPAS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EPAS1
    Sirion Biotech Customized adenovirus for overexpression of EPAS1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for EPAS1 (see all 8)
    OriGene ORF clones in mouse, rat for EPAS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EPAS1 (NM_001430)
    Sino Biological Human cDNA Clone for EPAS1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPAS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPAS1
    Sirion Biotech Customized lentivirus for stable overexpression of EPAS1 
                         Customized lentivirus expression plasmids for stable overexpression of EPAS1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for EPAS1
    Search LifeMap BioReagents cell lines for EPAS1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPAS1


    (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 EPAS1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cellular response to hypoxia
    Cellular response to hypoxia0.72
    Cellular responses to stress0.72
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    Regulation of Gene Expression by Hypoxia-inducible Factor0.36
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha0.72
    2Development PDGF signaling via STATs and NF-kB
    Development Angiopoietin - Tie2 signaling0.38
    3Signaling events mediated by VEGFR1 and VEGFR2
    Signaling events mediated by VEGFR1 and VEGFR20.37
    4Development HGF signaling pathway
    Renal cell carcinoma0.30
    5Pathways in cancer
    Pathways in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for EPAS1
        Development Angiopoietin - Tie2 signaling


    1 Cell Signaling Technology (CST) Pathway for EPAS1
        Translational Control

    1 GeneGo (Thomson Reuters) Pathway for EPAS1
        Development Angiopoietin - Tie2 signaling

    3 BioSystems Pathways for EPAS1
        Adipogenesis
    Signaling events mediated by VEGFR1 and VEGFR2
    HIF-2-alpha transcription factor network


    5/6        Reactome Pathways for EPAS1 (see all 6)
        Cellular response to hypoxia
    Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Gene Expression by Hypoxia-inducible Factor


    2         Kegg Pathways  (Kegg details for EPAS1):
        Pathways in cancer
    Renal cell carcinoma


    EPAS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPAS1

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

    5/66 Interacting proteins for EPAS1 (Q998141, 2, 3 ENSP000002637344) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-61722 I2D: score=3 STRING: ENSP00000332973
    SP1P080472, 3, ENSP000003293574MINT-3378498 MINT-3378477 I2D: score=1 STRING: ENSP00000329357
    EIF3EP602281, 3, ENSP000002208494EBI-447470,EBI-347740 I2D: score=3 STRING: ENSP00000220849
    MAXP612441, 3, ENSP000003514904EBI-447470,EBI-751711 I2D: score=3 STRING: ENSP00000351490
    PDK1Q151182, 3, ENSP000002820774MINT-3378519 I2D: score=1 STRING: ENSP00000282077
    About this table

    Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0001666response to hypoxia IDA11782478
    GO:0001892embryonic placenta development IEA--
    GO:0001974blood vessel remodeling IEA--
    GO:0002027regulation of heart rate IEA--

    EPAS1 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

    EPAS1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for EPAS1

    9 Novoseek inferred chemical compound relationships for EPAS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 60.2 70 19080330 (10), 11301389 (7), 10531360 (6), 11747073 (4) (see all 19)
    glycyrrhizin 34.1 7 11041245 (4), 10784423 (1)
    oxygen 29 16 16208515 (2), 18711622 (1), 19755485 (1), 11280732 (1) (see all 9)
    pd 98,059 27.7 5 10559262 (2), 16188236 (1)
    iron 20.8 22 9079716 (4), 19451301 (2), 17417656 (2), 20354189 (1)
    catecholamine 14.9 3 10580084 (1), 10671489 (1), 15258146 (1)
    tyrosine 3.72 5 12011461 (2), 15192019 (1), 10580084 (1), 20224786 (1)
    lipid 0 3 15258146 (2), 17202795 (1)
    glucose 0 2 15258146 (1), 18371555 (1)

    Search CenterWatch for drugs/clinical trials and news about EPAS1

    (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 EPAS1 gene: 
    NM_001430.4  

    Unigene Cluster for EPAS1:

    Endothelial PAS domain protein 1
    Hs.468410  [show with all ESTs]
    Unigene Representative Sequence: NM_001430
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460015 ENST00000449347 ENST00000263734(uc002ruv.3) ENST00000467888
    ENST00000475822 ENST00000463191 ENST00000483692 ENST00000466465(uc002ruw.3)
    ENST00000465318 ENST00000468530
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate EPAS1 (see all 53):
    hsa-miR-142-5p hsa-miR-520f hsa-miR-631 hsa-miR-99b* hsa-miR-199a-3p hsa-miR-548k hsa-miR-938 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidEPAS1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPAS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPAS1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPAS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPAS1

    Additional mRNA sequence: 

    AF052094.1 AK123845.1 BC015869.1 BC051338.1 U51626.1 U81984.1 

    24/29 DOTS entries (see all 29):

    DT.92448372  DT.449363  DT.95188989  DT.97815573  DT.120938928  DT.120938931  DT.95118391  DT.92448361 
    DT.70103015  DT.100834471  DT.100883412  DT.120938868  DT.120938922  DT.91676244  DT.91948790  DT.91989707 
    DT.100646026  DT.120938824  DT.120938859  DT.120938899  DT.91660569  DT.91877949  DT.92448366  DT.95188981 

    24/613 AceView cDNA sequences (see all 613):

    AA532542 BM928073 BQ669534 BU677756 BU677556 AI422227 BQ007843 AA252136 
    AF052094 BQ647378 AA954488 AI376985 BE673112 AA635595 AI336066 BU728341 
    AI278891 AI423052 BM971101 AV702338 BU627447 AL121258 BM673660 CA411571 

    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

    EPAS1 expression in normal human tissues (normalized intensities)      EPAS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACGTTATTA
    EPAS1 Expression
    About this image


    EPAS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Endocardial Cells Endocardium
             DKK1-induced cells ( Derivation of cardiomyocytes from pluripotent stem cells and...
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Human umbilical vein endothelial cells (HUVEC)
             CD31, CD144 positive cells ( Two-step protocol for endothelial differentiation by...
     
     Mesoderm (Gastrulation Derivatives)
             PureStem Z11, Meso Progenitor
     
     Eye (Sensory Organs)
             Human Iris Pigment Epithelial Cells (HIPEpiC)   
     
     Epithelium (Uncategorized)
             Human Iris Pigment Epithelial Cells (HIPEpiC)   

    See EPAS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPAS1

    SOURCE GeneReport for Unigene cluster: Hs.468410

    UniProtKB/Swiss-Prot: EPAS1_HUMAN, Q99814
    Tissue specificity: Expressed in most tissues, with highest levels in placenta, lung and heart. Selectively
    expressed in endothelial cells

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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 EPAS1 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 Epas11 , 5 endothelial PAS domain protein 11, 5 85.88(n)1
    88.49(a)1
      17 (56.90 cM)5
    138191  NM_010137.31  NP_034267.31 
     867539075 
    chicken
    (Gallus gallus)
    Aves EPAS11 endothelial PAS domain protein 1 72.74(n)
    76.89(a)
      395596  NM_204807.1  NP_990138.1 
    lizard
    (Anolis carolinensis)
    Reptilia EPAS16
    endothelial PAS domain protein 1
    74(a)
    1 ↔ 1
    GL343284.1(97463-258985)
    zebrafish
    (Danio rerio)
    Actinopterygii epas1b1 endothelial PAS domain protein 1b 63.96(n)
    61.89(a)
      555192  NM_001039806.1  NP_001034895.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0029411 AGAP002941-PA 55.94(n)
    44.37(a)
      1273024  XM_311962.4  XP_311962.4 
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-346
    Helix-loop-helix 34
    25(a)
    possible ortholog
    V(13705975-13707360)


    ENSEMBL Gene Tree for EPAS1 (if available)
    TreeFam Gene Tree for EPAS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPAS1 gene
    ARNT22  CLOCK2  NPAS22  ARNT2  NPAS32  HIF1A2  SIM22  SIM12  
    HIF3A2  ARNTL2  NPAS12  ARNTL22  
    4 SIMAP similar genes for EPAS1 using alignment to 4 protein entries:     EPAS1_HUMAN (see all proteins):
    HIF-1A    HIF3A    HIF1A    NPAS3

    EPAS1 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

    10/2320 SNPs in EPAS1 are shown (see all 2320)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673604
    Familial erythrocytosis 4 (ECYT4)4--see VAR_0673602 M V mis40--------
    VAR_0424434
    Familial erythrocytosis 4 (ECYT4)4--see VAR_0424432 G W mis40--------
    VAR_0673594
    Familial erythrocytosis 4 (ECYT4)4--see VAR_0673592 M T mis40--------
    VAR_0673614
    Familial erythrocytosis 4 (ECYT4)4--see VAR_0673612 G R mis40--------
    VAR_0673584
    Familial erythrocytosis 4 (ECYT4)4--see VAR_0673582 P L mis40--------
    VAR_0673624
    Familial erythrocytosis 4 (ECYT4)4--see VAR_0673622 F L mis40--------
    rs1378530361,2
    Cpathogenic146474147(+) TGGACA/G/TGGGAA 3 R G W mis10--------
    rs1911741911,2
    --46389300(+) ACTGTA/TGGCAC 1 -- us2k10--------
    rs784838701,2
    C,F--46389348(+) TCCCAA/GGTGAG 1 -- us2k12Minor allele frequency- G:0.11CSA NA 121
    rs1130231211,2
    F--46389387(+) TATCTG/ACCAAT 1 -- us2k11Minor allele frequency- A:0.00CSA 1

    HapMap Linkage Disequilibrium report for EPAS1 (46520806 - 46613842 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EPAS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2714CNV Insertion18451855
    dgv149e55CNV Loss17911159
    dgv1181e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): EPAS1
    SABiosciences Cancer Mutation PCR Assays
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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: 603349   
    OMIM disorders: 611783  
    UniProtKB/Swiss-Prot: EPAS1_HUMAN, Q99814
  • Familial erythrocytosis 4 (ECYT4) [MIM:611783]: An autosomal dominant disorder characterized by increased
    serum red blood cell mass, elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/61 diseases for EPAS1 (see all 61):    About MalaCards
    familial erythrocytosis 4    multiple paragangliomas associated with polycythemia    nodular malignant melanoma    vein disease
    hypoxia    varicose veins    retinopathy of prematurity    intrahepatic cholestasis of pregnancy
    intrahepatic cholestasis    von hippel-lindau disease    cholestasis    polycythemia
    kidney cancer    renal cell carcinoma    paraganglioma    pheochromocytoma
    clear cell renal cell carcinoma    endotheliitis    macular degeneration    age related macular degeneration

    1 disease from the University of Copenhagen DISEASES database for EPAS1:
    Renal cell carcinoma

    EPAS1 for disorders           About GeneDecksing

    10/17 Novoseek inferred disease relationships for EPAS1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 43.1 14 11301389 (2), 20032376 (1), 18945681 (1), 16230378 (1) (see all 6)
    pheochromocytoma 35.7 2 16954163 (1), 12368197 (1)
    tumors 28.8 17 11888900 (3), 11301389 (2), 20363910 (2), 20354189 (1) (see all 9)
    bladder cancer 22.6 6 14767275 (2), 11992927 (1), 11350893 (1)
    hepatocellular carcinoma 20.1 1 14966910 (1)
    cancer 17.8 14 15039136 (2), 14767275 (1), 18945681 (1), 17717129 (1) (see all 7)
    mammary tumor 14.9 1 16108483 (1)
    bacterial infections 10.7 1 20148305 (1)
    solid tumor 8.75 2 17670948 (1), 12011461 (1)
    inflammation 6.49 5 9079716 (1), 10992490 (1), 8870657 (1), 20082685 (1)

    Genetic Association Database (GAD): EPAS1
    Human Genome Epidemiology (HuGE) Navigator: EPAS1 (15 documents)

    Export disorders for EPAS1 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 EPAS1 gene, integrated from 9 sources (see all 348):
    (articles sorted by number of sources associating them with EPAS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. (PubMed id 18378852)1, 2, 3, 4, 9 Percy M.J....Lee F.S. (2008)
    2. Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway. (PubMed id 9079689)1, 2, 3, 9 Hogenesch J.B.... Bradfield C.A. (1997)
    3. Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. (PubMed id 9000051)1, 2, 3 Tian H.... Russell D.W. (1997)
    4. The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes. (PubMed id 16208515)1, 4, 9 Henderson J....Yu B. (2005)
    5. Genetic Contributions to the Development of Retinopathy of Prematurity. (PubMed id 18787502)1, 4, 9 Mohamed S....Dagle J.M. (2008)
    6. Two new mutations in the HIF2A gene associated with erythrocytosis. (PubMed id 22367913)1, 2 Percy M.J.... Lee F.S. (2012)
    7. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. (PubMed id 21131975)1, 4 Purdue M.P....Brennan P. (2011)
    8. Genetic variations in Tibetan populations and high al titude adaptation at the Himalayas. (PubMed id 21030426)1, 4 Peng Y....Su B. (2010)
    9. A Genome-Wide Search for Signals of High Altitude Ada ptation in Tibetans. (PubMed id 20961960)1, 4 Xu S....Jin L. (2010)
    10. Natural selection on EPAS1 (HIF2alpha) associated wit h low hemoglobin concentration in Tibetan highlanders. (PubMed id 20534544)1, 4 Beall C.M....Zheng Y.T. (2010)

    (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: 2034 HGNC: 3374 AceView: EPAS1 Ensembl:ENSG00000116016 euGenes: HUgn2034
    ECgene: EPAS1 Kegg: 2034 H-InvDB: EPAS1

    (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 EPAS1 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 EPAS1 gene:
    Search GeneIP for patents involving EPAS1

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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