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

EPAS1 Gene

protein-coding   GIFtS: 66
GCID: GC02P046436

endothelial PAS domain protein 1
 Explore 65 diseases affiliated with
EPAS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EPAS1    

Aliases
for EPAS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Endothelial PAS Domain Protein 11 2     EPAS-12 3
HIF2A1 2 3 5     HIF-2-Alpha1
MOP21 2 3 5     HIF2-Alpha1
HLF1 2 3     HIF-1-Alpha-Like Factor2 3
PASD21 2 3     PAS Domain-Containing Protein 22 3
BHLHe731     ECYT42 5
Basic-Helix-Loop-Helix-PAS Protein MOP22 3     Endothelial PAS Domain-Containing Protein 12
Class E Basic Helix-Loop-Helix Protein 732 3     HIF-1alpha-Like Factor2
Hypoxia-Inducible Factor 2-Alpha2 3     Hypoxia-Inducible Factor 2 Alpha2
Member Of PAS Protein 22 3     BHLHE733

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


Summaries
for EPAS1 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 EPAS1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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

Proteins
for EPAS1 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: 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)
6/7 PDB 3D structures from and Proteopedia for EPAS1 (see all 7):
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99814

    • EPAS1 Protein expression data from MOPED and PaxDb:    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
    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: EPAS1
    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 ProSpec Recombinant Proteins
    Uscn Proteins for EPAS1

    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 (see all 4): EPAS1
    OriGene Custom Antibody Services for EPAS1 
    GenScript Custom Superior Antibodies Services for EPAS1
    Novus Biologicals EPAS1 Antibodies
    Abcam antibodies for EPAS1 
    Uscn Antibodies for EPAS1
    ThermoFisher Antibody for EPAS1

    Assay Products for EPAS1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    R&D Systems Multiplex/Array Assay Kits & Reagents for EPAS1 (HIF-2 alpha/EPAS1)         (see all)
    GenScript Custom Assay Services for EPAS1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for EPAS1

    Protein Domains /
    Families
    for EPAS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EPAS1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q99814

    ProtoNet protein and cluster: Q99814

    4 Blocks protein families:
    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


    Function
    for EPAS1 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: 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:0003704specific RNA polymerase II transcription factor activity ----
    GO:0004871signal transducer activity IEA--
         
    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:
         Mouse knock-outs for EPAS1: Epas1tm1Pec Epas1tm1Yfk Epas1tm1.1Mcs
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for EPAS1 

    miRNA
    Products:            		 OriGene 3'-UTR Clone: EPAS1
    Browse MicroRNA Expression Plasmids
    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 plasmid: EPAS1 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 EPAS1 (see all 7)
    OriGene shRNA RFP: EPAS1
    OriGene siRNA: EPAS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPAS1
    Sirion Biotech Custom design and validation of potent shRNA sequences against EPAS1 

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EPAS1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EPAS1 (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: EPAS1 (NM_001430)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPAS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPAS1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for EPAS1
    Search LifeMap BioReagents cell lines for EPAS1
    Sirion Biotech Customized stable knockdown cell line services for EPAS1 
    Sirion Biotech Customized inducible knockdown cell line services for EPAS1
    Sirion Biotech Customized stable overexpressing cell line services for EPAS1
    Sirion Biotech Customized inducible overexpressing cell line services for EPAS1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPAS1


    Pathways & Interactions
    for EPAS1 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 - 5/10 super-pathways (see all 10) 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
    		Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    		Cellular response to hypoxia0.72
    		Nuclear Export of Ubiquitinated HIF-alpha:VHL:EloB/C:CUL2:RBX1 Complex0.67
    		Cellular responses to stress0.72
    		Destruction of Ubiquitinated HIF-alpha by the Proteasome0.67
    2Regulation of Gene Expression by Hypoxia-inducible Factor
    		Regulation of Gene Expression by Hypoxia-inducible Factor1.00
    		Formation of HIF:CBP:p300 Complex at Promoters0.67
    3Translocation of HIF-alpha from Cytosol to Nucleus
    		Translocation of HIF-alpha from Cytosol to Nucleus1.00
    		Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha0.50
    4Development_PDGF signaling via STATs and NF-kB
    		Development_Angiopoietin - Tie2 signaling0.38
    		Development Angiopoietin - Tie2 signaling0.38
    5Adipogenesis
    		Adipogenesis1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/10        Reactome Pathways for EPAS1 (see all 10)
        Cellular response to hypoxia
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Translocation of HIF-alpha from Cytosol to Nucleus
    Formation of HIF:CBP:p300 Complex at Promoters
    Cellular responses to stress


    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)

    5/67 Interacting proteins for EPAS1 (Q998141, 2, 3 ENSP000002637344) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    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-1237448 I2D: score=3 STRING: ENSP00000220849
    RAB4B-EGLN2Q96KS03, ENSP000003070804I2D: score=2 STRING: ENSP00000307080
    MAXP612441, 3, ENSP000003514904EBI-447470,EBI-878388 I2D: score=3 STRING: ENSP00000351490
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    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



    Drugs & Compounds
    for EPAS1 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

    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 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 

    Transcripts
    for EPAS1 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 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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    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: EPAS1 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 EPAS1 (see all 7)
    OriGene shRNA RFP: EPAS1
    OriGene siRNA: EPAS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPAS1
    Sirion Biotech Custom design and validation of potent shRNA sequences against EPAS1 
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EPAS1 (see all 2)
    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 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EPAS1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPAS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPAS1

    Additional cDNA sequence: 

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

    24/25 DOTS entries (see all 25):

    DT.92448372  DT.449363  DT.95188989  DT.97815573  DT.120938928  DT.120938931  DT.95118391  DT.92448361 
    DT.70103015  DT.100883412  DT.120938868  DT.120938922  DT.91676244  DT.91948790  DT.91989707  DT.100646026 
    DT.120938824  DT.120938859  DT.120938899  DT.91660569  DT.95188981  DT.100834471  DT.91800770  DT.95188984 

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

    T35278 AV702338 CA447977 BE673112 CA448473 AW105720 BQ026731 BM971101 
    BM466682 BQ647835 AI094908 BQ643864 AA954488 BQ675380 CD611695 AA635595 
    CA411571 BU677696 AU106263 BQ064635 BM766935 AI089495 CA419781 BQ003904 

    GeneLoc Exon Structure


    Expression
    for EPAS1 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

    EPAS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACGTTATTA
    EPAS1 Expression
    About this image

    EPAS1 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)
    HeartEndocardiumEndocardial CellsEndocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    Fetal cardiomyocytes (20 weeks) (Primary Cell)Heart, Myocardium
    Syncytiotrophoblast-like cells (Generation of syncyt...)
    Trophoblast-like cells (Generation of tropho...)
    CD31, CD144 positive cells (Two-step protocol fo...)

    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
    for EPAS1 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 EPAS1 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 73(a)
    		 1 ↔ 1
    		 GL343284.1(100178-153743)
    zebrafish
    (Danio rerio)    		 Actinopterygii epas1b1 endothelial PAS domain protein 1b 63.96(n)
    61.89(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 hlh-346
    hif-16
    		 Helix-loop-helix 34
    HIF (hypoxia inducible factor) homolog family memb...
    		 25(a)
    15(a)
    		 possible ortholog
    1 ↔ many
    		 V(13705963-13707347)
    V(20780380-20785227)


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

    Paralogs
    for EPAS1 gene

    (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  HIF1A2  NPAS32  SIM22  SIM12  
    HIF3A2  ARNTL2  ARNTL22  NPAS12  
    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



    Genomic Variants
    for EPAS1 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

    10/1909 NCBI SNPs in EPAS1 are shown (see all 1909)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378530361,2
    		Cpathogenic46607420(+) TGGACA/G/TGGGAA 3 R G W mis10--------
    rs1911741911,2
    		--46522577(+) ACTGTA/TGGCAC 1 -- us2k10--------
    rs784838701,2
    		--46522625(+) TCCCAA/GGTGAG 1 -- us2k12Minor allele frequency- G:0.11CSA NA 121
    rs1130231211,2
    		--46522664(+) TATCTG/ACCAAT 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs1152729741,2
    		F--46522676(+) TGAACT/ACATTA 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1151528941,2
    		C,F--46522726(+) AAGCCC/TAGTAC 1 -- us2k11Minor allele frequency- T:0.04NA 120
    rs1876730951,2
    		--46522794(+) TTTGCA/CATCTT 1 -- us2k10--------
    rs1921226521,2
    		--46522799(+) AATCTC/TTGAAT 1 -- us2k10--------
    rs1420081131,2
    		--46522912(+) CCCAAC/TACTTT 1 -- us2k10--------
    rs1506772131,2
    		--46522929(+) CCAAGG/TTGGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for EPAS1 (46520806 - 46613842 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for EPAS1
         5 CNVs: 8944 3354 89628 78530 89629
    Human Gene Mutation Database (HGMD): EPAS1

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    Disorders / Diseases
    for EPAS1 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
    EPAS1 for disorders           About GeneDecksing

    OMIM gene information: 603349   
    OMIM disorders: 611783  
    UniProtKB/Swiss-Prot: EPAS1_HUMAN, Q99814
  • Defects in EPAS1 are the cause of familial erythrocytosis type 4 (ECYT4) [MIM:611783]. ECYT4 is an autosomal
    • dominant disorder characterized by increased serum red blood cell mass, elevated hemoglobin concentration and
    hematocrit, and normal platelet and leukocyte counts

    20/65 diseases for EPAS1 (see all 65):    About MalaCards
    erythrocytosis    von hippel-lindau disease    bardet-biedl syndrome    age related macular degeneration
    hypoxia    pre-eclampsia    clear cell renal cell carcinoma    intrahepatic cholestasis
    intrahepatic cholestasis of pregnancy    macular degeneration    nodular malignant melanoma    b-cell lymphomas
    atrial fibrillation    renal cell carcinoma    cholestasis    primary polycythemia
    polycythemia    vein disease    retinopathy of prematurity    pheochromocytoma

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

    10/17 Novoseek 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

    Publications
    for EPAS1 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 EPAS1 gene, integrated from 9 sources (see all 318):
    (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, 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. Two new mutations in the HIF2A gene associated with erythrocytosis. (PubMed id 22367913)1, 2 Percy M.J.... Lee F.S. (2012)
    6. Erythrocytosis-associated HIF-2alpha mutations demons trate a critical role for residues C-terminal to the hydroxylacceptor proline. (PubMed id 19208626)1, 2 Furlow P.W....Lee F.S. (2009)
    7. 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)
    8. Molecular mechanisms of transcription activation by HLF and HIF1alpha in response to hypoxia: their stabilization and redox signal-induced interaction with CBP/p300. (PubMed id 10202154)1, 2 Ema M.... Fujii-Kuriyama Y. (1999)
    9. Effect of endothelial PAS domain protein 1 and hypoxia inducible factor 1alpha on vascular endothelial growth factor expression in human pancreatic carcinoma. (PubMed id 19080330)1, 9 Zhu D.M....Zhang X.Y. (2008)
    10. Endothelial PAS domain protein 1 gene promotes angiogenesis through the transactivation of both vascular endothelial growth factor and its receptor, Flt-1. (PubMed id 15192019)1, 9 Takeda N....Nagai R. (2004)

    External Searches for EPAS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing EPAS1 gene

    (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

    Other Databases showing EPAS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EPAS1 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 EPAS1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for EPAS1 gene

    (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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