About   Help   FAQ
Epor Gene Detail
Summary
  • Symbol
    Epor
  • Name
    erythropoietin receptor
  • Feature Type
    protein coding gene
  • IDs
    MGI:95408
    NCBI Gene: 13857
  • Gene Overview
    MyGene.info: EPOR
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr9:21958897-21963506 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4610 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 7.93 cM
  • Mapping Data
    16 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    EPOR, erythropoietin receptor
  • Vertebrate Orthologs
    8
  • Human Ortholog
    EPOR, erythropoietin receptor
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EPO-R
  • Links
    NCBI Gene ID: 2057
    neXtProt AC: NX_P19235
    UniProt: P19235

  • Chr Location
    19p13.2; chr19:11377205-11384342 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human EPOR associations

Human Disease Mouse Models
      
IDs
View 2 models
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
    43 phenotypes from 9 alleles in 10 genetic backgrounds
    27 phenotypes from multigenic genotypes
    99 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mutations in this locus affect erythropoiesis. Targeted null mutants die at embryonic day 11-12.5 with severe anemia. Mutants with truncated alleles are viable with mild changes in erythropoiesis. A human mutation replacement allele produces polycythemia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 ENSMUSG00000006235 Ensembl Gene Model | MGI Sequence Detail 4610 C57BL/6J ±  kb
    transcript ENSMUST00000006397 Ensembl | MGI Sequence Detail 1761 Not Applicable  
    polypeptide ENSMUSP00000006397 Ensembl | MGI Sequence Detail 507 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      42 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 50
      Genomic 3
      cDNA 35
      Primer pair 10
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-9567
    References
    more
    • Summaries
      All 224
      Developmental Gene Expression 44
      Diseases 1
      Gene Ontology 11
      Phenotypes 99
    • Earliest
      J:9695 D'Andrea AD, et al., Expression cloning of the murine erythropoietin receptor. Cell. 1989 Apr 21;57(2):277-85
    • Latest
      J:262662 Bretz CA, et al., Erythropoietin Signaling Increases Choroidal Macrophages and Cytokine Expression, and Exacerbates Choroidal Neovascularization. Sci Rep. 2018 Feb 1;8(1):2161

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory