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Epas1
Gene Detail
Symbol

Name
ID
Epas1
endothelial PAS domain protein 1
MGI:109169
Synonyms
bHLHe73, HIF2A, HIF-2alpha, Hif like protein, HLF, HRF, hypoxia inducible transcription factor 2alpha, MOP2
Feature Type
protein coding gene
Genetic Map
Chromosome 17
56.90 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr17:86753907-86833410 bp, + strand
From Ensembl annotation of GRCm38

  79504 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1095  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: EPAS1
Gene Tree: Epas1

Human
homologs
EPAS1, endothelial PAS domain protein 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2034
neXtProt AC: NX_Q99814

Human Synonyms: bHLHe73, ECYT4, HIF2A, HLF, MOP2, PASD2

Human Chr (Location): 2p21-p16; chr2:46297402-46386703 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human EPAS1

Mutations,
alleles, and
phenotypes
All mutations/alleles(35) : Gene trapped(23) Targeted(12)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for null mutations display prenatal, neonatal or postnatal lethality. For some alleles lethality is associated with vascular abnormalities.
 
Human Diseases Modeled in Mice Using Epas1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Epas1 interacts with 310 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (59 annotations)
Process angiogenesis, blood vessel remodeling, ...
Component cytoplasm, nuclear speck, ...
Function DNA binding, histone acetyltransferase binding, ...
External Resources: FuncBase
Expression
Literature Summary: (45 records)
Data Summary: Results (269)    Tissues (129)    Images (84)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 235
Northern blot 8
RT-PCR 26
cDNA source data(69)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA EPAS1 ; Xenbase epas1 ; ZFIN epas1a, epas1b    NEW 
Molecular
reagents
All nucleic(77) cDNA(70) Primer pair(4) Other(3)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000024140 (Evidence)
Entrez Gene 13819 (Evidence)
UniGene 1415
DFCI TC1616170, TC1583230
DoTS DT.87072354, DT.94250734
NIA Mouse Gene Index U038125
Consensus CDS Project CCDS37713.1
International Mouse Phenotyping Consortium Status Epas1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024140 Ensembl Gene Model | MGI Sequence Detail 79504 C57BL/6J ±  kb
transcript ENSMUST00000024954 Ensembl | MGI Sequence Detail 5309 Not Applicable 
polypeptide ENSMUSP00000024954 Ensembl | MGI Sequence Detail 874 Not Applicable 

For the selected sequences
All sequences(21) RefSeq(2) UniProt(2)
Polymorphisms
SNPs within 2kb(861 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR014887 HIF-1 alpha, transactivation domain, C-terminal
InterPro IPR021537 Hypoxia-inducible factor, alpha subunit
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
InterPro IPR001067 Nuclear translocator
InterPro IPR001610 PAC motif
InterPro IPR000014 PAS domain
InterPro IPR013767 PAS fold
Protein Ontology PR:000007106 endothelial PAS domain-containing protein 1
References
(Earliest) J:37851 Tian H, et al., Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. Genes Dev. 1997 Jan 1;11(1):72-82
(Latest) J:220562 Gong H, et al., HIF2alpha signaling inhibits adherens junctional disruption in acute lung injury. J Clin Invest. 2015 Feb;125(2):652-64
All references(169)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-38213

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory