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Epas1 Gene Detail
Summary
  • Symbol
    Epas1
  • Name
    endothelial PAS domain protein 1
  • Synonyms
    bHLHe73, HIF2A, HIF-2alpha, Hif like protein, HLF, HRF, hypoxia inducible transcription factor 2alpha, MOP2
  • Feature Type
    protein coding gene
  • IDs
    MGI:109169
    NCBI Gene: 13819
  • Gene Overview
    MyGene.info: EPAS1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:86753907-86833410 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      79504 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 56.90 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EPAS1, endothelial PAS domain protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EPAS1, endothelial PAS domain protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    bHLHe73, ECYT4, HIF2A, HLF, MOP2, PASD2
  • Links
    NCBI Gene ID: 2034
    neXtProt AC: NX_Q99814
    UniProt: Q99814

  • Chr Location
    2p21; chr2:46297402-46386703 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 1095
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EPAS1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Epas1 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    63 phenotypes from 9 alleles in 11 genetic backgrounds
    34 phenotypes from multigenic genotypes
    133 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for null mutations display prenatal, neonatal or postnatal lethality. For some alleles lethality is associated with vascular abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      852 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 79
      cDNA 71
      Primer pair 4
      Other 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-38213
    References
    more
    • Summaries
      All 257
      Developmental Gene Expression 48
      Diseases 2
      Gene Ontology 27
      Phenotypes 133
    • 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:259999 Meng X, et al., Hypoxia-inducible factor-1alpha is a critical transcription factor for IL-10-producing B cells in autoimmune disease. Nat Commun. 2018 Jan 17;9(1):251

    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
    07/17/2018
    MGI 6.12
    The Jackson Laboratory