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Epor Gene Detail
Summary
  • Symbol
    Epor
  • Name
    erythropoietin receptor
  • Feature Type
    protein coding gene
  • IDs
    MGI:95408
    NCBI Gene: 13857
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:21870193-21874802 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 7.93 cM
  • Mapping Data
    16 experiments
Strain
Comparison
more
  • SNPs within 2kb
    149 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95408
 protein coding gene Chr9:21870193-21874915 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034470
 protein coding gene Chr9:19232966-19237643 (-)
A/J MGP_AJ_G0034448
 protein coding gene Chr9:18859204-18863881 (-)
AKR/J MGP_AKRJ_G0034374
 protein coding gene Chr9:19229221-19233898 (-)
BALB/cJ MGP_BALBcJ_G0034439
 protein coding gene Chr9:18744479-18749156 (-)
C3H/HeJ MGP_C3HHeJ_G0034151
 protein coding gene Chr9:19524287-19528964 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034960
 protein coding gene Chr9:19989396-19994073 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031890
 protein coding gene Chr9:17962766-17967455 (-)
CAST/EiJ MGP_CASTEiJ_G0033474
 protein coding gene Chr9:19367495-19372159 (-)
CBA/J MGP_CBAJ_G0034124
 protein coding gene Chr9:20775855-20780532 (-)
DBA/2J MGP_DBA2J_G0034282
 protein coding gene Chr9:18826285-18830962 (-)
FVB/NJ MGP_FVBNJ_G0034225
 protein coding gene Chr9:18375881-18380532 (-)
LP/J MGP_LPJ_G0034368
 protein coding gene Chr9:19382425-19387094 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034269
 protein coding gene Chr9:22333029-22337698 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034980
 protein coding gene Chr9:19188246-19192923 (-)
PWK/PhJ MGP_PWKPhJ_G0033179
 protein coding gene Chr9:18830046-18834693 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033013
 protein coding gene Chr9:19234837-19239549 (-)
WSB/EiJ MGP_WSBEiJ_G0033589
 protein coding gene Chr9:18918118-18922787 (-)



Homology
more
  • Human Ortholog
    EPOR, erythropoietin receptor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EPOR, erythropoietin receptor
  • Synonyms
    EPO-R
  • Links
    NCBI Gene ID: 2057
    neXtProt AC: NX_P19235
    UniProt: P19235

  • Chr Location
    19p13.2; chr19:11377207-11384342 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with human EPOR associations

Human Disease Mouse Models
      
IDs
IDs
 View 2 models
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
    43 phenotypes from 9 alleles in 10 genetic backgrounds
    41 phenotypes from multigenic genotypes
    156 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.
Mutations in this locus affect erythropoiesis. Null mutants die at E11-12.5 with severe anemia. Mutants with truncated alleles are viable with mild changes in erythropoiesis. A human mutation replacement allele produces polycythemia. A hypoactive allele causes a retinal phenotype and impaired response to oxygen-induced retinal injury.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    40
  • GO References
    14
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
membraneless 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
    1024
  • Tissues
    148
  • cDNA Data
    35
  • Literature Summary
    51
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 56
      Genomic 3
      cDNA 35
      Primer pair 14
      Other 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-9567
    References
    more
    • Summaries
      All 299
      Developmental Gene Expression 51
      Diseases 1
      Gene Ontology 14
      Phenotypes 156
    • 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:358005 Han Y, et al., Hemolysis-driven IFNalpha production impairs erythropoiesis by negatively regulating EPO signaling in sickle cell disease. Blood. 2024 Mar 14;143(11):1018-1031
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory