EPOR erythropoietin receptor [Homo sapiens (human)] - Gene

Summary

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Official Symbol: EPORprovided by HGNC
Official Full Name: erythropoietin receptorprovided by HGNC
Primary source: HGNC:3416
See related: Ensembl:ENSG00000187266; HPRD:00587; MIM:133171; Vega:OTTHUMG00000182027
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EPO-R
Summary: This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Genomic context

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Location :: 19p13.3-p13.2

Sequence :: Chromosome: 19; NC_000019.9 (11487881..11495018, complement)

See EPOR in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

EPO/EPO-R expression and microvessel density are closely related, and expression of these two genes might be an endogenous stimulant of angiogenesis during the progression of non-small cell lung cancer.
Title: [Expression of erythropoietin and erythropoietin receptor in non-small cell lung cancer and its correlation with microvessel density].
Epo/EpoR pathway was involved in cell growth, invasion, survival, and sensitivity to the multi-kinases inhibitor Sunitinib in renal cell carcinoma cells.
Title: The erythropoietin/erythropoietin receptor signaling pathway promotes growth and invasion abilities in human renal carcinoma cells.
These findings reveal a role of endogenous EPO/EPOR for cognition, at least in schizophrenic patients.
Title: Common variants of the genes encoding erythropoietin and its receptor modulate cognitive performance in schizophrenia.
TAL1 binds to the EPO-R promoter to activate EPO-R expression
Title: T-cell acute leukemia 1 (TAL1) regulation of erythropoietin receptor and association with excessive erythrocytosis.
High EPOR expression in OSCC is associated with an aggressive tumor behavior and poorer prognosis in the univariate analysis among patients with OSCC.
Title: Clinical significance of erythropoietin receptor expression in oral squamous cell carcinoma.
Erythropoietin is capable of downregulating erythropoietin receptor when it acts early within HepG2 cells.
Title: Vitamin C affects the expression of hepcidin and erythropoietin receptor in HepG2 cells.
Peginesatide and erythropoietin stimulate similar erythropoietin receptor-mediated signal transduction and gene induction events.
Title: Peginesatide and erythropoietin stimulate similar erythropoietin receptor-mediated signal transduction and gene induction events.
the biology of the EpoR in ovarian cancer cells
Title: Location and the functionality of erythropoietin receptor(s) in A2780 cells.
The absence of functional Epo receptor activity in human skeletal muscle indicates that the long-term effects are indirect and probably related to an increased oxidative capacity in this tissue
Title: Evaluation of functional erythropoietin receptor status in skeletal muscle in vivo: acute and prolonged studies in healthy human subjects.
a critical role for membrane raft in recruitment and assembly of Epo-R and signal intermediates into discrete membrane signaling units
Title: Erythropoietin receptor signaling is membrane raft dependent.

Submit: New GeneRIF Correction See all (109)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000112.1	AAF23132.1	EPO	BIND	PubMed	Interaction between EPOR (PDB ID: 1EER_B) and EPO (PDB ID: 1EER_A).
NP_000112.1	AAF23132.1	EPO	BIND	PubMed	Interaction between EPOR (PDB ID: 1EER_C) and EPO (PDB ID: 1EER_A).
NP_000112.1	NP_000112.1	EPOR	BIND	PubMed	Interaction between EPOR (PDB ID: 1ERN_B) and EPOR (PDB ID: 1ERN_A).
NP_000112.1	NP_006089.1	GNB2L1	BIND	PubMed	EPOR interacts with RACK-1. This interaction was modelled on a demonstrated interaction between EPOR from an unspecified species and human RACK-1.
P19235	Q8WWM7	ATXN2L	HPRD	PubMed
P19235	P22681	CBL	HPRD	PubMed
P19235	Q9NSE2	CISH	HPRD	PubMed
P19235	P46109	CRKL	HPRD	PubMed
P19235	P32927	CSF2RB	HPRD	PubMed
P19235	P01588	EPO	HPRD	PubMed
P19235	P19235	EPOR	HPRD	PubMed
P19235	Q13480	GAB1	HPRD	PubMed
P19235	Q9UQC2	GAB2	HPRD	PubMed
P19235	P63096	GNAI1	HPRD	PubMed
P19235	P63244	GNB2L1	HPRD	PubMed
P19235	Q13588	GRAP	HPRD	PubMed
P19235	P62993	GRB2	HPRD	PubMed
P19235	O00145	INPP5D	HPRD	PubMed
P19235	Q9Y4H2	IRS2	HPRD	PubMed
P19235	O60674	JAK2	HPRD	PubMed
P19235	P10721	KIT	HPRD	PubMed
P19235	P21583	KITLG	HPRD	PubMed
P19235	P07288	KLK3	HPRD	PubMed
P19235	P07948	LYN	HPRD	PubMed
P19235	P28482	MAPK1	HPRD	PubMed
P19235	P27361	MAPK3	HPRD	PubMed
P19235	Q04912	MST1R	HPRD	PubMed
P19235	P27986	PIK3R1	HPRD	PubMed
P19235	P19174	PLCG1	HPRD	PubMed
P19235	P16885	PLCG2	HPRD	PubMed
P19235	Q06124	PTPN11	HPRD	PubMed
P19235	P29350	PTPN6	HPRD	PubMed
P19235	O14492	SH2B2	HPRD	PubMed
P19235	P29353	SHC1	HPRD	PubMed
P19235	O14508	SOCS2	HPRD	PubMed
P19235	O14543	SOCS3	HPRD	PubMed
P19235	P42229	STAT5A	HPRD	PubMed
P19235	P51692	STAT5B	HPRD	PubMed
P19235	P43405	SYK	HPRD	PubMed
P19235	P15498	VAV1	HPRD	PubMed
BioGRID:108371	BioGRID:116429	ATXN2L	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108371	BioGRID:114457	BTRC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108371	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108371	BioGRID:107574	CISH	BioGRID	PubMed	Affinity Capture-Western; PCA; Reconstituted Complex
BioGRID:108371	BioGRID:107789	CRKL	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108371	BioGRID:108370	EPO	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108371	BioGRID:109032	GNAI1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108371	BioGRID:115671	GNB2L1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108371	BioGRID:115973	GRAP	BioGRID	PubMed	Reconstituted Complex
BioGRID:108371	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108371	BioGRID:109847	INPP5D	BioGRID	PubMed	PCA
BioGRID:108371	BioGRID:114209	IRS2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108371	BioGRID:109920	JAK2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108371	BioGRID:110245	LYN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108371	BioGRID:110592	MST1R	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108371	BioGRID:119261	NOSIP	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108371	BioGRID:111313	PIK3R1	BioGRID	PubMed	Affinity Capture-Western; PCA; Reconstituted Complex
BioGRID:108371	BioGRID:111351	PLCG1	BioGRID	PubMed	PCA
BioGRID:108371	BioGRID:111745	PTPN11	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108371	BioGRID:111742	PTPN6	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108371	BioGRID:115850	SH2B2	BioGRID	PubMed	Reconstituted Complex
BioGRID:108371	BioGRID:112361	SHC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108371	BioGRID:114362	SOCS2	BioGRID	PubMed	Affinity Capture-Western; PCA; Reconstituted Complex; Two-hybrid
BioGRID:108371	BioGRID:114488	SOCS3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108371	BioGRID:112592	SRC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108371	BioGRID:112653	STAT5A	BioGRID	PubMed	Affinity Capture-Western; PCA; Reconstituted Complex
BioGRID:108371	BioGRID:112717	SYK	BioGRID	PubMed	Affinity Capture-Luminescence
BioGRID:108371	BioGRID:112721	SYP	BioGRID	PubMed	Reconstituted Complex
BioGRID:108371	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108371	BioGRID:113252	VAV1	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
EPO Receptor Signaling, organism-specific biosystem (from WikiPathways)
EPO Receptor Signaling, organism-specific biosystemThe erythropoietin receptor is a 66 kDa peptide and is a member of the cytokine receptor family. The receptor is tyrosine phosphorylated upon binding by erythropoietin and associates with and activat...
EPO signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
EPO signaling pathway, organism-specific biosystem
EPO signaling pathway
Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Hematopoietic cell lineage, conserved biosystem (from KEGG)
Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
Jak-STAT signaling pathway, conserved biosystem (from KEGG)
Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
Kit Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
Kit Receptor Signaling Pathway, organism-specific biosystemKit is a receptor protein tyrosine kinase, which is a receptor for stem cell factor or kit ligand. Signaling through Kit is important for formation of red cells, lymphocytes, mast cells and platelets...
PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
Paxillin-independent events mediated by a4b1 and a4b7, organism-specific biosystem (from Pathway Interaction Database)
Paxillin-independent events mediated by a4b1 and a4b7, organism-specific biosystem
Paxillin-independent events mediated by a4b1 and a4b7
Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem
Signaling events mediated by Stem cell factor receptor (c-Kit)

General gene information

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Markers

GDB:196998 (e-PCR)
- UniSTS:155912

GDB:374131 (e-PCR)
- UniSTS:156942

D19S1015 (e-PCR)
- UniSTS:11830

RH17696 (e-PCR)
- UniSTS:43619

RH70840 (e-PCR)
- UniSTS:85366

GDB:250953 (e-PCR)
- UniSTS:156305

GDB:250955 (e-PCR)
- UniSTS:156306

GDB:266625 (e-PCR)
- UniSTS:156337

RH71284 (e-PCR)
- UniSTS:81857

Genotypes

See EPOR SNP Geneview Report
See EPOR SNP Genotype Report
See EPOR SNP Variation Viewer Report

Homology

Homologs of the EPOR gene: The EPOR gene is conserved in Rhesus monkey, dog, cow, mouse, rat, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
erythropoietin receptor activity	IDA Inferred from Direct Assay more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
brain development	IEA Inferred from Electronic Annotation more info
decidualization	IEA Inferred from Electronic Annotation more info
embryo development	IEA Inferred from Electronic Annotation more info
erythropoietin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
erythropoietin-mediated signaling pathway	TAS Traceable Author Statement more info	PubMed
heart development	IEA Inferred from Electronic Annotation more info
signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: erythropoietin receptor

Names: erythropoietin receptor

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.

Genomic

NG_021395.1 RefSeqGene

Range

5001..12138

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000121.3 → NP_000112.1 erythropoietin receptor precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AC024575, BC019092, BU619338, M60459

Consensus CDS

CCDS12260.1

UniProtKB/Swiss-Prot

P19235

Related

ENSP00000222139, OTTHUMP00000268114, ENST00000222139, OTTHUMT00000458791

Conserved Domains (2) summary

cd00063
Location:146 – 238
Blast Score: 97

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 ...

pfam09067
Location:37 – 140
Blast Score: 341

EpoR_lig-bind; Erythropoietin receptor, ligand binding

RNA

NR_033663.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC024575, BC019092, BU619338

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p10 Primary Assembly

Range

11487881..11495018, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

11063851..11070988, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018930.1 Alternate CHM1_1.0

Range

11424657..11431794, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01029859.1 (2177..9314)	None
genomic	AC024575.6 (52999..59623)	None
genomic	AMYH01009483.1 (264223..271360)	None
genomic	CH471106.1	EAW84205.1
		EAW84206.1
		EAW84207.1
		EAW84208.1
genomic	M76595.1	AAA52393.1
genomic	M77244.1	AAA52392.1
genomic	S45332.1	AAB23271.1
mRNA	AK315097.1	BAG37561.1
mRNA	BC019092.2	None
mRNA	BC112153.1	AAI12154.1
mRNA	BC143697.1	None
mRNA	BC143698.1	None
mRNA	BC143700.1	None
mRNA	BU619338.1	None
mRNA	M34986.1	AAA52401.1
mRNA	M60459.1	AAA52403.1
mRNA	X57282.1	CAA40550.1
mRNA	X97671.1	CAA66260.1