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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
  • Alliance
    gene page
  • Transcription Start Sites
    38 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:87061292-87140838 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 56.90 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    852 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109169
 protein coding gene Chr17:87061128-87140838 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024093
 protein coding gene Chr17:90090031-90175353 (+)
A/J MGP_AJ_G0024052
 protein coding gene Chr17:87191793-87274645 (+)
AKR/J MGP_AKRJ_G0024021
 protein coding gene Chr17:88651720-88738437 (+)
BALB/cJ MGP_BALBcJ_G0024053
 protein coding gene Chr17:87039458-87121029 (+)
C3H/HeJ MGP_C3HHeJ_G0023818
 protein coding gene Chr17:89498082-89603276 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024498
 protein coding gene Chr17:93216299-93298998 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021937
 protein coding gene Chr17:82354132-82436722 (+)
CAST/EiJ MGP_CASTEiJ_G0023297
 protein coding gene Chr17:90348097-90434571 (+)
CBA/J MGP_CBAJ_G0023792
 protein coding gene Chr17:97110392-97209216 (+)
DBA/2J MGP_DBA2J_G0023920
 protein coding gene Chr17:85643173-85724759 (+)
FVB/NJ MGP_FVBNJ_G0023886
 protein coding gene Chr17:85139027-85222844 (+)
LP/J MGP_LPJ_G0024004
 protein coding gene Chr17:90870922-90960844 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023914
 protein coding gene Chr17:97047174-97132746 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024543
 protein coding gene Chr17:89171760-89255787 (+)
PWK/PhJ MGP_PWKPhJ_G0023042
 protein coding gene Chr17:85267134-85353631 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022853
 protein coding gene Chr17:85939145-86023934 (+)
WSB/EiJ MGP_WSBEiJ_G0023363
 protein coding gene Chr17:90015769-90101810 (+)



Homology
more
  • Human Ortholog
    EPAS1, endothelial PAS domain protein 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EPAS1, endothelial PAS domain protein 1
  • Synonyms
    bHLHe73, ECYT4, HIF2A, HLF, MOP2, PASD2
  • Links
    NCBI Gene ID: 2034
    neXtProt AC: NX_Q99814
    UniProt: Q99814

  • Chr Location
    2p21; chr2:46293667-46386697 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Epas1 mouse models; 4 with human EPAS1 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    65 phenotypes from 10 alleles in 13 genetic backgrounds
    12 phenotypes from multigenic genotypes
    210 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. Temporally restricted overexpression in intestinal epithelium leads to increased susceptibility to DSS-induced colitis morbidity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    73
  • GO References
    30
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    1201
  • Tissues
    232
  • cDNA Data
    71
  • Literature Summary
    68
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13819 NCBI Gene Model | MGI Sequence Detail 79547 C57BL/6J ±  kb
    transcript NM_010137 RefSeq | MGI Sequence Detail 5352 C57BL/6  
    polypeptide P97481 UniProt | EBI | MGI Sequence Detail 874 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 88
      cDNA 73
      Primer pair 9
      Other 6

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-38213
    References
    more
    • Summaries
      All 365
      Developmental Gene Expression 68
      Diseases 1
      Gene Ontology 30
      Phenotypes 210
    • 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:346095 Ma J, et al., Deficiency of factor-inhibiting HIF creates a tumor-promoting immune microenvironment. Proc Natl Acad Sci U S A. 2024 Mar 5;121(10):e2309957121
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory