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EPAS1 Gene

protein-coding   GIFtS: 68
GCID: GC02P046436

Endothelial PAS Domain Protein 1

  See EPAS1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
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   
ORGUL members:         

Export aliases for EPAS1 gene to outside databases

Previous GC identifers: GC02P046542 GC02P046693 GC02P046499 GC02P046262


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 multiple paragangliomas associated with polycythemia, and sporadic pheochromocytoma. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   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 Chromatin IP Primers for EPAS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
Selected 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: 

  • 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)1
  • In normoxia, is hydroxylated on Asn-847 by HIF1AN thus probably abrogating interaction with CREBBP and EP300 and
    preventing transcriptional activation (By similarity)1
  • Phosphorylated on multiple sites in the CTAD (By similarity)1
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains
    (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EPAS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001421.2  
    ENSEMBL proteins: 
     ENSP00000406137   ENSP00000263734  
    Reactome Protein details: Q99814

    EPAS1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    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.

     
    Search eBioscience for Proteins for EPAS1 

     
    antibodies-online proteins for EPAS1 (12 products) 

     
    antibodies-online peptides for EPAS1

    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
    OriGene Custom Antibody Services for EPAS1
    Novus Biologicals EPAS1 Antibodies
    Abcam antibodies for EPAS1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for EPAS1
    antibodies-online antibodies for EPAS1 (124 products) 

    EPAS1 Assay Products:

    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.
    Search eBioscience for ELISAs for EPAS1 
    antibodies-online kits for EPAS1 (12 products) 


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

    Selected InterPro protein domains (see all 7):
     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


    Find genes that share domains with EPAS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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
         
    Find genes that share ontologies with EPAS1           About GenesLikeMe


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

         13 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Epas1):
     cardiovascular system  embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  muscle  nervous system 
     respiratory system  skeleton  vision/eye 

    Find genes that share phenotypes with EPAS1           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for EPAS1

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for EPAS1 (see all 363):
    AAA1,  ABCD3,  ACAT1,  ACN9,  ACO1,  ACTG2,  ADAM21,  ADAM28,  ADAMTS8,  ADARB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target EPAS1:
    hsa-mir-185-5p (MIRT006962)

    Block miRNA regulation of human, mouse, rat EPAS1 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for EPAS1
    Predesigned siRNA for gene silencing in human, mouse, rat EPAS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EPAS1

    Clone
    Products:
         
    OriGene clones in human, mouse for EPAS1 (see all 7)
    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
    Addgene plasmids for EPAS1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EPAS1
    Browse ESI BIO Cell Lines and PureStem Progenitors for EPAS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPAS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EPAS1_HUMAN, Q99814: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

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

    Find genes that share ontologies with EPAS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EPAS1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen1.00
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha0.00
    Cellular response to hypoxia1.00
    Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha0.00
    Regulation of Gene Expression by Hypoxia-inducible Factor0.00
    2Cellular Senescence
    Cellular responses to stress0.81
    3Immune response IL 23 signaling pathway
    Development Angiopoietin Tie2 signaling0.38
    4Signaling events mediated by VEGFR1 and VEGFR2
    Signaling events mediated by VEGFR1 and VEGFR20.37
    5Translational Control
    Translational Control


    Find genes that share SuperPaths with EPAS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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


    4 Reactome Pathways for EPAS1
        Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha
    Transcriptional regulation of pluripotent stem cells
    Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
    Regulation of gene expression by Hypoxia-inducible Factor


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EPAS1
    Interactions:

        GeneGlobe Interaction Network for EPAS1

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

    Selected Interacting proteins for EPAS1 (Q998141, 2, 3 ENSP000002637344) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-61722 I2D: score=3 STRING: ENSP00000332973
    SP1P080471, 2, 3, ENSP000003293574EBI-447470,EBI-298336 MINT-3378498 MINT-3378477 I2D: score=1 STRING: ENSP00000329357
    EGLN1Q9GZT91, 3, ENSP000003556014EBI-447470,EBI-1174818 I2D: score=3 STRING: ENSP00000355601
    EIF3EP602281, 3, ENSP000002208494EBI-447470,EBI-347740 I2D: score=3 STRING: ENSP00000220849
    MAXP612441, 3, ENSP000003514904EBI-447470,EBI-751711 I2D: score=3 STRING: ENSP00000351490
    About this table

    Gene Ontology (GO): Selected biological process terms (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--

    Find genes that share ontologies with EPAS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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)



    Find genes that share compounds with EPAS1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    Block miRNA regulation of human, mouse, rat EPAS1 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat EPAS1
    Clone
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    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPAS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPAS1
    Addgene plasmids for EPAS1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EPAS1
    OriGene qSTAR qPCR primer pairs in human, mouse for EPAS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPAS1
      QuantiTect SYBR Green Assays in human, mouse, rat EPAS1
      QuantiFast Probe-based Assays in human, mouse, rat EPAS1

    Additional mRNA sequence: 

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

    Selected 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 

    Selected AceView cDNA sequences (see all 613):

    CA436045 CA419781 W79216 BU168134 CA431305 CR623669 BM264405 BQ003904 
    AA252136 AA911022 CB851503 AA331192 AA664146 AI423052 BU789534 AA854307 
    AA954488 AK123845 BU677696 BU728341 CB269543 BM766935 BU681303 CN483870 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EPAS1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 16) fully expand
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             DKK1-induced cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     Placenta (Extraembryonic Tissues)
             Syncytiotrophoblast-like cells
     
     Endothelium (Cardiovascular System)
             Human umbilical vein endothelial cells (HUVEC)
    EPAS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPAS1 Protein Expression

    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for EPAS1 gene from Selected species (see all 14)    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 85.58(n)1
    88.03(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 72.4(n)
    76.31(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)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia epas11 endothelial PAS domain protein 1 67.17(n)
    67.13(a)
      448117  NM_001005647.1  NP_001005647.1 
    zebrafish
    (Danio rerio)
    Actinopterygii epas1b1 endothelial PAS domain protein 1b 64.79(n)
    63.11(a)
      555192  NM_001039806.1  NP_001034895.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sima3 regulation of transcription,
    DNA-dependent RNA more
    39(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea hif-16
    Protein HIF-1, isoform e
    21(a)
    1 → many
    V(20780413-20785258) WBGene00001851


    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)
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    Paralogs for EPAS1 gene
    ARNT22  CLOCK2  NPAS22  AHR2  ARNT2  NPAS32  HIF1A2  SIM22  
    SIM12  HIF3A2  ARNTL2  NPAS12  ARNTL22  AHRR2  
    4 SIMAP similar genes for EPAS1 using alignment to 4 protein entries:     EPAS1_HUMAN (see all proteins):
    HIF-1A    HIF3A    HIF1A    NPAS3

    Find genes that share paralogs with EPAS1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EPAS1 (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
    Erythrocytosis, familial, 4 (ECYT4)4--see VAR_0673602 M V mis40--------
    VAR_0424434
    Erythrocytosis, familial, 4 (ECYT4)4--see VAR_0424432 G W mis40--------
    VAR_0673594
    Erythrocytosis, familial, 4 (ECYT4)4--see VAR_0673592 M T mis40--------
    VAR_0673614
    Erythrocytosis, familial, 4 (ECYT4)4--see VAR_0673612 G R mis40--------
    VAR_0673584
    Erythrocytosis, familial, 4 (ECYT4)4--see VAR_0673582 P L mis40--------
    VAR_0673624
    Erythrocytosis, familial, 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EPAS1
    DNA2.0 Custom Variant and Variant Library Synthesis for EPAS1

    (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.)
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    OMIM gene information: 603349   
    OMIM disorders: 611783  
    UniProtKB/Swiss-Prot: EPAS1_HUMAN, Q99814
  • Erythrocytosis, familial, 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

  • 10 diseases for EPAS1:    
    About MalaCards
    multiple paragangliomas associated with polycythemia    sporadic pheochromocytoma    sporadic secreting paraganglioma    familial erythrocytosis 4
    vein disease    nodular malignant melanoma    erythrocytosis    hypoxia
    somatostatinoma    pheochromocytoma

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

    Find genes that share disorders with EPAS1           About GenesLikeMe

    Selected 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)
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    PubMed articles for EPAS1 gene, integrated from 10 sources (see all 366):
    (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. (Blood 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. (J. Biol. Chem. 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. (Genes Dev. 1997)
    4. The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes. (PubMed id 16208515)1, 4, 9 Henderson J....Yu B. (Hum. Genet. 2005)
    5. Genetic contributions to the development of retinopathy of prematurity. (PubMed id 18787502)1, 4, 9 Mohamed S....Dagle J.M. (Pediatr. Res. 2009)
    6. Two new mutations in the HIF2A gene associated with erythrocytosis. (PubMed id 22367913)1, 2 Percy M.J.... Lee F.S. (Am. J. Hematol. 2012)
    7. Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas. (PubMed id 21030426)1, 4 Peng Y....Su B. (Mol. Biol. Evol. 2011)
    8. A genome-wide search for signals of high-altitude adaptation in Tibetans. (PubMed id 20961960)1, 4 Xu S....Jin L. (Mol. Biol. Evol. 2011)
    9. 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. (Nat. Genet. 2011)
    10. Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. (PubMed id 20534544)1, 4 Beall C.M....Zheng Y.T. (Proc. Natl. Acad. Sci. U.S.A. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2034 HGNC: 3374 AceView: EPAS1 Ensembl:ENSG00000116016 euGenes: HUgn2034
    ECgene: EPAS1 Kegg: 2034 H-InvDB: EPAS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EPAS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for 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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