Epor erythropoietin receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Eporprovided by MGI
Official Full Name: erythropoietin receptorprovided by MGI
Primary source: MGI:MGI:95408
See related: Ensembl:ENSMUSG00000006235 AllianceGenome:MGI:95408
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables erythropoietin receptor activity. Involved in erythropoietin-mediated signaling pathway. Acts upstream of or within several processes, including brain development; decidualization; and heart development. Is active in plasma membrane. Is expressed in several structures, including egg cylinder; embryo mesenchyme; genitourinary system; germ layer; and heart and pericardium. Used to study familial erythrocytosis 1. Human ortholog(s) of this gene implicated in anemia; familial erythrocytosis 1; high grade glioma; polycythemia; and systemic lupus erythematosus. Orthologous to human EPOR (erythropoietin receptor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver E14.5 (RPKM 73.4), liver E14 (RPKM 57.8) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A3; 9 7.93 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (21870193..21874915, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (21958897..21963576, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Erythropoietin receptor signal is crucial for periodontal ligament stem cell-based tissue reconstruction in periodontal disease.
Title: Erythropoietin receptor signal is crucial for periodontal ligament stem cell-based tissue reconstruction in periodontal disease.
Hemolysis-driven IFNalpha production impairs erythropoiesis by negatively regulating EPO signaling in sickle cell disease.
Title: Hemolysis-driven IFNα production impairs erythropoiesis by negatively regulating EPO signaling in sickle cell disease.
Erythropoietin Receptor (EPOR) Signaling in the Osteoclast Lineage Contributes to EPO-Induced Bone Loss in Mice.
Title: Erythropoietin Receptor (EPOR) Signaling in the Osteoclast Lineage Contributes to EPO-Induced Bone Loss in Mice.
Erythroid-specific inactivation of Slc12a6/Kcc3 by EpoR promoter-driven Cre expression reduces K-Cl cotransport activity in mouse erythrocytes.
Title: Erythroid-specific inactivation of Slc12a6/Kcc3 by EpoR promoter-driven Cre expression reduces K-Cl cotransport activity in mouse erythrocytes.
Extracellular CIRP-Impaired Rab26 Restrains EPOR-Mediated Macrophage Polarization in Acute Lung Injury.
Title: Extracellular CIRP-Impaired Rab26 Restrains EPOR-Mediated Macrophage Polarization in Acute Lung Injury.
The erythropoietin receptor expressed in skeletal muscle is essential for mitochondrial biogenesis and physiological exercise.
Title: The erythropoietin receptor expressed in skeletal muscle is essential for mitochondrial biogenesis and physiological exercise.
EpoR stimulates rapid cycling and larger red cells during mouse and human erythropoiesis.
Title: EpoR stimulates rapid cycling and larger red cells during mouse and human erythropoiesis.
EpoR-tdTomato-Cre mice enable identification of EpoR expression in subsets of tissue macrophages and hematopoietic cells.
Title: EpoR-tdTomato-Cre mice enable identification of EpoR expression in subsets of tissue macrophages and hematopoietic cells.
Erythropoietin signaling in osteoblasts is required for normal bone formation and for bone loss during erythropoietin-stimulated erythropoiesis.
Title: Erythropoietin signaling in osteoblasts is required for normal bone formation and for bone loss during erythropoietin-stimulated erythropoiesis.
Obligatory role of Schwann cell-specific erythropoietin receptors in erythropoietin-induced functional recovery and neurogenic muscle atrophy after nerve injury.
Title: Obligatory role of Schwann cell-specific erythropoietin receptors in erythropoietin-induced functional recovery and neurogenic muscle atrophy after nerve injury.

Submit: New GeneRIF Correction See all GeneRIFs (84)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (7) 1 citation
Targeted (15) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Epor (e-PCR), detects polymorphism
- UniSTS:265219

UniSTS:496753 (e-PCR)
- UniSTS:496753

Epor (e-PCR), detects polymorphism
- UniSTS:496753

D9Mit86 (e-PCR), detects polymorphism
- UniSTS:131972

Epor (e-PCR), detects polymorphism
- UniSTS:143000

Epor (e-PCR), detects polymorphism
- UniSTS:143001

PMC14696P1 (e-PCR)
- UniSTS:271008

UniSTS:259513 (e-PCR)
- UniSTS:259513

Epor (e-PCR), detects polymorphism
- UniSTS:259513

PMC150206P1 (e-PCR)
- UniSTS:271053

PMC150350P1 (e-PCR)
- UniSTS:271058

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables erythropoietin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables erythropoietin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables erythropoietin receptor activity	ISO Inferred from Sequence Orthology more info
enables erythropoietin receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables erythropoietin receptor activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle tissue morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within decidualization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within embryo development	IDA Inferred from Direct Assay more info	PubMed
involved_in erythropoietin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of nitric oxide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of response to reactive oxygen species	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in vasculogenesis involved in coronary vascular morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in ventricular cardiac muscle tissue morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in visceral serous pericardium development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: erythropoietin receptor

Names: EPO-R

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001411820.1 → NP_001398749.1 erythropoietin receptor isoform 2

Status: VALIDATED

Source sequence(s)

AC163623
NM_001411821.1 → NP_001398750.1 erythropoietin receptor isoform 3

Status: VALIDATED

Source sequence(s)

AC163623
NM_010149.4 → NP_034279.3 erythropoietin receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_034279.3

Status: VALIDATED

Source sequence(s)

AC163623

Consensus CDS

CCDS22915.1

UniProtKB/Swiss-Prot

P14753, Q63852

UniProtKB/TrEMBL

Q3UTV9

Related

ENSMUSP00000006397.6, ENSMUST00000006397.7

Conserved Domains (2) summary

cd00063
Location:145 → 243

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl21522
Location:37 → 139

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...