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Epor
Gene Detail
Symbol

Name
ID
Epor
erythropoietin receptor
MGI:95408
STS
Feature Type
protein coding gene
Genetic Map
Chromosome 9
7.93 cM
Detailed Genetic Map ± 1 cM


Mapping data(16)
Sequence Map
Chr9:21958899-21963576 bp, - strand
From Ensembl annotation of GRCm38

  4678 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:95  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

HCOP human homology predictions: EPOR
Protein SuperFamily: erythropoietin receptor
Gene Tree: Epor

Human
homologs
EPOR, erythropoietin receptor
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2057
neXtProt AC: NX_P19235

Human Synonyms: EPO-R

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

Disease Associations: (1) Diseases Associated with Human EPOR

Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Targeted(16)
Incidental mutations (data from 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.
 
Human Diseases Modeled in Mice Using Epor (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Epor interacts with 48 markers (Mir25, Mir34a, Mir127, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (32 annotations)
Process brain development, cardiac muscle tissue morphogenesis, ...
Component cytosol, extracellular region, ...
Function cytokine receptor activity, erythropoietin receptor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (43 records)
Data Summary: Results (139)    Tissues (66)    Images (46)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 18
RNA in situ 71
Northern blot 3
RT-PCR 47
cDNA source data(33)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase epor ; ZFIN epor    NEW 
Molecular
reagents
All nucleic(46) Genomic(3) cDNA(33) Primer pair(9) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000006235 (Evidence)
Entrez Gene 13857 (Evidence)
UniGene 2653
DFCI TC1584102
DoTS DT.488326
NIA Mouse Gene Index U030596
Consensus CDS Project CCDS22915.1
International Mouse Phenotyping Consortium Status Epor
Sequences
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 sequences
All sequences(21) RefSeq(4) UniProt(2)
Polymorphisms
RFLP(3) : SNPs within 2kb(45 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009167 Erythropoietin receptor
InterPro IPR003961 Fibronectin, type III
InterPro IPR015152 Growth hormone/erythropoietin receptor, ligand binding
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003528 Long hematopoietin receptor, single chain, conserved site
Protein Ontology PR:000007142 erythropoietin receptor
References
(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:221121 Dey S, et al., Erythropoietin negatively regulates pituitary ACTH secretion. Brain Res. 2015 May 22;1608:14-20
All references(184)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-9567

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory