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Epor Gene Detail
Summary
  • Symbol
    Epor
  • Name
    erythropoietin receptor
  • Feature Type
    protein coding gene
  • IDs
    MGI:95408
    NCBI Gene: 13857
Location & Maps
more
  • Sequence Map
    Chr9:21958899-21963576 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4678 bp   ±  kb flank

  • Genome Browsers
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

  • Chr Location
    19p13.3-p13.2; chr19:11377205-11384342 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Epor mouse models; 1 with human EPOR associations

Human Disease Mouse Models
       Erythrocytosis, Familial, 1; ECYT1   OMIM: 133100 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
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  • Phenotype Summary
    51 phenotypes from 13 alleles in 10 genetic backgrounds
    16 phenotypes from multigenic genotypes
    77 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    17
  • Targeted
    16
  • Transgenic
    1
  • Incidental Mutations
    APF , CvDC
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
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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
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
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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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000006235 Ensembl Gene Model | MGI Sequence Detail 4678 C57BL/6J ±  kb
transcript ENSMUST00000006397 Ensembl | MGI Sequence Detail 1829 Not Applicable  
polypeptide ENSMUSP00000006397 Ensembl | MGI Sequence Detail 507 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    45 from dbSNP Build 137
  • RFLP
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000007142 erythropoietin receptor
  • PDB
  • InterPro Domains
    IPR009167 Erythropoietin receptor
    IPR003961 Fibronectin type III
    IPR015152 Growth hormone/erythropoietin receptor, ligand binding
    IPR013783 Immunoglobulin-like fold
    IPR003528 Long hematopoietin receptor, single chain, conserved site
Molecular
Reagents
less
  • All nucleic 46
    Genomic 3
    cDNA 33
    Primer pair 9
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-9567
References
more
  • Summaries
    All 188
    Developmental Gene Expression 43
    Diseases 1
    Gene Ontology 11
    Phenotypes 77
  • 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:226762 Pradeep S, et al., Erythropoietin Stimulates Tumor Growth via EphB4. Cancer Cell. 2015 Nov 9;28(5):610-22

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
02/02/2016
MGI 6.02
The Jackson Laboratory