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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 zebrafish

Gene Tree: Epas1

Human
homologs
Human Homolog EPAS1, endothelial PAS domain protein 1
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
Disease Associations  (1) Diseases Associated with Human EPAS1
Mutations,
alleles, and
phenotypes
All mutations/alleles(34) : Gene trapped(23) Targeted(11)
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 Using Mouse Epas1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Epas1 interacts with 310 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (58 annotations)
Process angiogenesis, blood vessel remodeling, ...
Component cytoplasm, nucleus, ...
Function DNA binding, histone acetyltransferase binding, ...
External Resources: FuncBase
Expression
Literature Summary: (41 records)
Data Summary: Results (246)    Tissues (107)    Images (77)
Theiler Stages: 2, 3, 4, 5, 11, 13, 15, 17, 19, 20, 21, 23, 27, 28
Assay TypeResults
RNA in situ 212
Northern blot 8
RT-PCR 26
cDNA source data(69)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(76) cDNA(69) Primer pair(4) Other(3)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000024140 (Evidence)
Entrez Gene13819 (Evidence)
UniGene1415
DFCITC1583230, TC1616170
DoTSDT.87072354, DT.94250734
NIA Mouse Gene IndexU038125
Consensus CDS ProjectCCDS37713.1
International Mouse Knockout Project StatusEpas1
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:207763 Proper SP, et al., Loss of hypoxia-inducible factor 2 alpha in the lung alveolar epithelium of mice leads to enhanced eosinophilic inflammation in cobalt-induced lung injury. Toxicol Sci. 2014 Feb;137(2):447-57
All references(152)
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
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory