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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EPOR Gene

protein-coding GIFtS: 68
GCID: GC19M011489

erythropoietin receptor

Explore 99 diseases affiliated with
EPOR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Erythropoietin Receptor¹ ²
EPO-R² ³

External Ids:	HGNC: 3416¹	Entrez Gene: 2057²	Ensembl: ENSG00000187266⁷	OMIM: 133171⁵	UniProtKB: P19235³

ORGUL members:
	NONCODE:n409310

Export aliases for EPOR gene to outside databases

Previous GC identifers: GC19M011619 GC19M011710 GC19M011333 GC19M011348 GC19M011350 GC19M011063

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EPOR:

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)

UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235

Function: Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation.

Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also

activate STAT1 and STAT3. May also activate the LYN tyrosine kinase

Function: Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling

Gene Wiki entry for EPOR (Erythropoietin receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EPOR gene promoter:
Tal-1 p53 COUP HNF-4alpha1 E47 GATA-1 AREB6 COUP-TF STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EPOR promoter sequence

Search SABiosciences Chromatin IP Primers for EPOR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPOR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3-p13.2 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13.3-p13.2

EPOR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPOR gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M011489: view genomic region (about GC identifiers)

Start:	11,487,881 bp from pter	End:	11,495,018 bp from pter
Size:	7,138 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235 (See protein sequence)

Recommended Name: Erythropoietin receptor precursor

Size: 508 amino acids; 55065 Da

Subunit: Forms homodimers on EPO stimulation. The tyrosine-phosphorylated form interacts with several SH2

domain-containing proteins including LYN (By similarity), the adapter protein APS, PTPN6 (By similarity), PTPN11,

JAK2, PI3 kinases, STAT5A/B, SOCS3, CRKL (By similarity). Interacts with INPP5D/SHIP1 (By similarity). The N-terminal

SH2 domain of PTPN6 binds Tyr-454 and inhibits signaling through dephosphorylation of JAK2 (By similarity). APS

binding also inhibits the JAK-STAT signaling. Binding to PTPN11, preferentially through the N-terminal SH2 domain,

promotes mitogenesis and phosphorylation of PTPN11 (By similarity). Binding of JAK2 (through its N-terminal) promotes

cell-surface expression (By similarity). Interaction with the ubiquitin ligase NOSIP mediates EPO-induced cell

proliferation. Interacts with ATXN2L

Subcellular location: Cell membrane; Single-pass type I membrane protein

Subcellular location: Isoform EPOR-S: Secreted. Note=Secreted and located to the cell surface

6 PDB 3D structures from and Proteopedia for EPOR:

1CN4 (3D)

1EBA (3D)

1EBP (3D)

1EER (3D)

1ERN (3D)

2JIX (3D)

Secondary accessions: B2RCG4 Q15443 Q2M205

Alternative splicing: 3 isoforms: P19235-1 P19235-2 P19235-3

Explore the universe of human proteins at neXtProt for EPOR: NX_P19235

Post-translational modifications:

On EPO stimulation, phosphorylated on C-terminal tyrosine residues by JAK2. The phosphotyrosine motifs are also

recruitment sites for several SH2-containing proteins and adapter proteins which mediate cell proliferation.

Phosphorylation on Tyr-454 is required for PTPN6 interaction, Tyr-426 for PTPN11. Tyr-426 is also required for SOCS3

binding, but Tyr-454/Tyr-456 motif is the preferred binding site¹

Ubiquitination at Lys-281 mediates receptor internalization, whereas ubiquitination at Lys-453 promotes trafficking of

activated receptors to the lysosomes for degradation (By similarity). Ubiquitinated by NOSIP; appears to be either

multi-monoubiquitinated or polyubiquitinated. Ubiquitination mediates proliferation and survival of EPO-dependent

cells¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P19235

EPOR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000112.1

ENSEMBL proteins:

ENSP00000222139 ENSP00000467809 ENSP00000466784 ENSP00000468187 ENSP00000467230

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for EPOR (Erythropoietin R)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for EPOR
	GenScript Custom Purified and Recombinant Proteins Services for EPOR
	Novus Biologicals EPOR Proteins Novus Biologicals EPOR Lysate
	Sino Biological Recombinant Protein for EPOR
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for EPOR

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005887	integral to plasma membrane	TAS	1848667

EPOR for ontologies About GeneDecksing

EPOR Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of EPOR
	R&D Systems Antibodies for EPOR (Erythropoietin R)
	OriGene Antibodies: EPOR OriGene Custom Antibody Services for EPOR
	GenScript Superior Antibodies for EPOR
	Novus Biologicals EPOR Antibodies
	Abcam antibodies for EPOR
	Uscn Antibodies for EPOR
	ThermoFisher Antibodies for EPOR

Assay Products for EPOR:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for EPOR (Erythropoietin R)
	GenScript Custom Assay Services for EPOR
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for EPOR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

EPOR for domains About GeneDecksing

5 InterPro domains/families:

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR009167 Erythropoietin_rcpt

IPR015152 Growth/epo_recpt_lig-bind

IPR003528 Long_hematopoietin_rcpt_CS

Graphical View of Domain Structure for InterPro Entry P19235

ProtoNet protein and cluster: P19235

UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235

Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular

transport and cell-surface receptor binding

Domain: The box 1 motif is required for JAK interaction and/or activation

Domain: Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif

(ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2

domain of several SH2-containing phosphatases

Similarity: Belongs to the type I cytokine receptor family. Type 1 subfamily

Similarity: Contains 1 fibronectin type-III domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235

Function: Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation.

Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also

activate STAT1 and STAT3. May also activate the LYN tyrosine kinase

Function: Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling

Genatlas biochemistry entry for EPOR:

erythropoietin receptor,unlikely involved in Diamond-Blackfan anemia,tightly linked to a full size LTR of human

endogenous retroviruses HERV-K,interacting with JAK2 and STAT5,expressed in kidney cells

miRNA Products:		OriGene 3'-UTR Clone: EPOR Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPOR
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate EPOR
		SwitchGear 3'UTR luciferase reporter plasmid: EPOR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPOR (see all 7) OriGene shRNA RFP: EPOR OriGene siRNA: EPOR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPOR

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for EPOR

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EPOR (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EPOR OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: EPOR (NM_000121)
		Sino Biological Human cDNA Clone for EPOR
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPOR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPOR

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for EPOR
		Search LifeMap BioReagents cell lines for EPOR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPOR

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004900	erythropoietin receptor activity	IDA	2163696
GO:0005515	protein binding	IPI	15644415
GO:0042802	identical protein binding	IPI	--

EPOR for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for EPOR:

Increased cell death in breast

Animal Models:
Mouse knock-outs for EPOR: Epor^tm1Jtp Epor^tm1Liz Epor^tm1Cos Epor^tm1Jni Epor^tm1Jae
12 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Epor):

cardiovascular system	cellular	embryogenesis	hematopoietic system	homeostasis/metabolism
immune system	liver/biliary system	mortality/aging	nervous system	no phenotypic analysis
normal	respiratory system

EPOR for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/20 super-pathways (see all 20) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

GPCR Pathway

GPCR Pathway	1.00	Estrogen Pathway	0.55
Ras Pathway	0.62	Pancreatic Adenocarcinoma	0.55
Breast Cancer Regulation by Stathmin1	0.58	Paxillin Interactions	0.53
NFAT in Immune Response	0.58	P2Y Receptor Signaling	0.38

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Nanog in Mammalian ESC Pluripotency

	Nanog in Mammalian ESC Pluripotency	1.00			14-3-3 Induced Intracellular Signaling	0.59
	GSK3 Signaling	0.61			eNOS Signaling	0.48

Development_EPO-induced Jak-STAT pathway

	Development_EPO-induced Jak-STAT pathway	1.00			EPO Receptor Signaling	0.42
	Development EPO-induced Jak-STAT pathway	1.00			EPO signaling pathway	0.34

Actin Nucleation by ARP-WASP Complex

	Actin Nucleation by ARP-WASP Complex	1.00			CDC42 Pathway	0.34
	Actin Nucleation and Branching	0.66

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for EPOR

	G-protein signaling K-RAS regulation pathway
	Development EPO-induced Jak-STAT pathway
	Development EPO-induced MAPK pathway

5/33 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EPOR (see all 33)

	Paxillin Interactions
	Molecular Mechanisms of Cancer
	Intracellular Calcium Signaling
	JNK Pathway
	Tec Kinases Signaling

3 GeneGo (Thomson Reuters) Pathways for EPOR

	Development EPO-induced MAPK pathway
	Development EPO-induced Jak-STAT pathway
	G-protein signaling K-RAS regulation pathway

5 BioSystems Pathways for EPOR

	EPO Receptor Signaling
	Kit Receptor Signaling Pathway
	Signaling events mediated by Stem cell factor receptor (c-Kit)
	Paxillin-independent events mediated by a4b1 and a4b7
	EPO signaling pathway

3 Kegg Pathways (Kegg details for EPOR):

	Cytokine-cytokine receptor interaction
	Jak-STAT signaling pathway
	Hematopoietic cell lineage

EPOR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for EPOR

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/75 Interacting proteins for EPOR (P19235^{1, 2, 3} ENSP00000222139⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 75)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTPN6	P29350²^,³, ENSP00000391592⁴	MINT-77967 MINT-74899 MINT-74949 MINT-77965 MINT-74951 MINT-73490 MINT-77964 MINT-77966 MINT-73504 MINT-73509 MINT-8037088 I2D: score=4 STRING: ENSP00000391592
INPP5D	Q92835²^,³, ENSP00000352575⁴	MINT-8037133 I2D: score=5 STRING: ENSP00000352575
PLCG2	P16885¹^,³, ENSP00000352336⁴	EBI-617321,EBI-617403 I2D: score=5 STRING: ENSP00000352336
PTPN1	P18031²^,³, ENSP00000360683⁴	MINT-6794734 MINT-6794720 MINT-6794748 I2D: score=2 STRING: ENSP00000360683
SOCS2	O14508¹^,²^,³, ENSP00000339428⁴	EBI-617321,EBI-617737 MINT-8037163 I2D: score=4 STRING: ENSP00000339428

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	NAS	1668606
GO:0007204	elevation of cytosolic calcium ion concentration	--	--
GO:0007420	brain development	IEA	--
GO:0007507	heart development	IEA	--
GO:0009790	embryo development	IEA	--

EPOR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EPOR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EPOR

3 DrugBank Compounds for EPOR About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Darbepoetin alfa	Epoetin (see all 2)	11096-26-7	target	agonist	17575216 11752352 16505108
Epoetin alfa	Epoetin (see all 2)	113427-24-0	target	agonist	17575216 11752352 16505108
3,5 DIBROMOTYROSINE	--	--	target	--	10592235

10/49 Novoseek chemical compound relationships for EPOR gene (see all 49) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
erex	79.2	4	8638628 (1), 7498361 (1), 1321832 (1)
aclacinomycin	74	10	8639908 (2), 9389364 (2), 8853898 (1), 8602880 (1) (see all 5)
tyrosine	67.3	279	8276859 (8), 7527668 (7), 7961995 (7), 8068943 (6) (see all 93)
nesp	60.6	4	16286456 (3), 11727508 (1)
pp 100	56.1	2	8034573 (1), 9162069 (1)
gp 130	55.6	19	19002875 (2), 10858439 (1), 18500765 (1), 7869746 (1) (see all 11)
n-acetylleucylleucylnorleucinal	51.8	7	8573070 (4), 10849444 (1)
methylcellulose	49	1	12612986 (1)
porphobilinogen	41.7	3	8639908 (1), 7858429 (1)
lenalidomide	41.1	3	17255789 (1), 17076650 (1), 20359632 (1)

Search CenterWatch for drugs/clinical trials and news about EPOR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for EPOR gene:

NM_000121.3

Unigene Cluster for EPOR:

Erythropoietin receptor

Hs.631624 [show with all ESTs]

Unigene Representative Sequence: NR_033663

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000222139(uc010xly.2 uc002mrk.2 uc002mrj.2 uc010xlx.2)

ENST00000592375 ENST00000588681 ENST00000588859 ENST00000591958 ENST00000586890

ENST00000590927 ENST00000589402

miRNA Products:		OriGene 3'-UTR Clone: EPOR Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPOR
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate EPOR
		SwitchGear 3'UTR luciferase reporter plasmid: EPOR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPOR (see all 7) OriGene shRNA RFP: EPOR OriGene siRNA: EPOR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPOR

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EPOR (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EPOR OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: EPOR (NM_000121)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPOR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPOR

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EPOR Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat EPOR
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPOR
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPOR

Additional cDNA sequence:

AK315097.1 BC019092.2 BC112153.1 BC143697.1 BC143698.1 BC143700.1 M34986.1 M60459.1

NR_033663.1 X57282.1

11 DOTS entries:

DT.100784536 DT.114055 DT.100784537 DT.100771958 DT.95140901 DT.100709263 DT.121483760 DT.121483805

DT.91759826 DT.40124769 DT.91894612

24/181 AceView cDNA sequences (see all 181):

CR618473 BM992649 BC064475 CR592320 BQ776641 AK074082 CR610088 AA470363

BU727288 BC019092 BX340440 CR620075 BF988921 AA960805 AA331289 NM_000121

AA470719 BQ773300 BX099767 M60459 BM996372 AA700628 AI457299 AA916937

GeneLoc Exon Structure

5/16 Alternative Splicing Database (ASD) splice patterns (SP) for EPOR (see all 16) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	·	7c	^	8	^	9a	·	9b	^	10a	·	10b	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16	^	17	^	18	^	19	^
SP1:			-				-						-												-																-
SP2:			-				-						-										-		-																-
SP3:
SP4:
SP5:

ExUns:	20a	·	20b	^	21	^	22	^	23	^	24a	·	24b	^	25	^	26a	·	26b	^	27	^	28	^	29a	·	29b	·	29c	·	29d	^	30	^	31	^	32a	·	32b	·	32c	·	32d
SP1:	-						-
SP2:	-
SP3:															-										-
SP4:															-				-						-
SP5:

ECgene alternative splicing isoforms for EPOR

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EPOR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACACTGTGC

About this image

EPOR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Cardiac Crescent

Cardiac Crescent Cells

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Blast colony cells (Generation and expan...)

See EPOR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EPOR

SOURCE GeneReport for Unigene cluster: Hs.631624

UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235

Tissue specificity: Erythroid cells and erythroid progenitor cells. Isoform EPOR-F is the most abundant form in

EPO-dependent erythroleukemia cells and in late-stage erythroid progenitors. Isoform EPOR-S and isoform EPOR-T are the

predominant forms in bone marrow. Isoform EPOR-T is the most abundant from in early-stage erythroid progenitor cells

SABiosciences Expression via Pathway-Focused PCR Arrays including EPOR:

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JAK / STAT Signaling Pathway in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for EPOR gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Epor^{1 , 5}	erythropoietin receptor^{1, 5}	82.31(n)¹ 81.85(a)¹		9 (7.93 cM)⁵ 13857¹ NM_010149.3¹ NP_034279.3¹ 21958899⁵
lizard (Anolis carolinensis)	Reptilia	EPOR⁶	--	40(a)	1 ↔ 1	2(78996152-79009423)
zebrafish (Danio rerio)	Actinopterygii	LOC100534667¹	erythropoietin receptor-like	47.85(n) 37.33(a)		100534667 XM_003198075.1 XP_003198123.1

ENSEMBL Gene Tree for EPOR (if available)
TreeFam Gene Tree for EPOR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for EPOR gene

MPL²

EPOR for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121917831^1,2	C	pathogenic	17486161(-)	`GAGTAC/GACTAT`	3	Y *	stg¹		0	--	--	--	--
rs62638745^1,2	C,F,	pathogenic	17486343(-)	`CTCCAA/GCCCTT`	3	N S	mis¹		3		NS NA EU	5729
rs317927^1,2	C,F,H,	--	11063756(+)	`TGAGAC/ACCTGT`	2	--	ds500¹		9		NS NA WA	1172
rs200554588^1,2	C	--	11064442(-)	`TTTTTG/TTATCT`	2	--	nc-transcript-variantut3¹		0	--	--	--	--
rs35586415^1,2	C,F	--	11065046(+)	`GTCCAG/ACACCA`	3	/L	nc-transcript-variantsyn¹		3		NA	46
rs318717^1,2	F,A,H,	--	11065832(-)	`TTTTTT/AAATTT`	2	--	int¹		9		EA NA NS WA	590
rs112371899^1,2	C,F,	--	11066626(+)	`ACAGGC/TGTGAG`	2	--	int¹		2		WA CSA	4
rs201469937^1,2	C	--	11066640(-)	`GCCTGA/GCATGG`	2	--	int¹		0	--	--	--	--
rs77080457^1,2		--	11066673(+)	`AGCTGG/TCTGAA`	2	--	int¹		4		CSA WA NA	241
rs200431601^1,2	C	--	11066906(-)	`TGGATC/TTCAAG`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for EPOR (11487881 - 11495018 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for EPOR: --
Human Gene Mutation Database (HGMD): EPOR

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

EPOR for disorders           About GeneDecksing

OMIM gene information: 133171
OMIM disorders: 133100
UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235

Defects in EPOR are the cause of familial erythrocytosis type 1 (ECYT1) [MIM:133100]. ECYT1 is an autosomal

dominant disorder characterized by increased serum red blood cell mass, elevated hemoglobin and hematocrit,

hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in

platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia

20/99 diseases for EPOR (see all 99): About MalaCards

erythrocytosis von hippel-lindau disease diamond-blackfan anemia doxorubicin induced cardiomyopathy

endolymphatic sac tumor polycythemia vera renal clear cell carcinoma non-small cell lung carcinoma

polycythemia clear cell renal cell carcinoma proliferative diabetic retinopathy multiple endocrine neoplasia

sickle cell disease olfactory neuroblastoma megakaryoblastic leukemia myeloproliferative disorder

cerebrovascular accident essential thrombocythemia diabetic retinopathy hemangioblastoma

2 diseases from the University of Copenhagen DISEASES database for EPOR:

Polycythemia Anemia

10/74 Novoseek disease relationships for EPOR gene (see all 74) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
erythrocytosis, familial	91.2	13	17327410 (2), 10498627 (2), 9121771 (1), 9664155 (1) (see all 8)
erythrocytosis	80.4	22	15712191 (5), 11929803 (2), 8608241 (1), 9488636 (1) (see all 10)
erythroleukemia	78	35	8142650 (4), 8608241 (3), 19581930 (2), 1314735 (2) (see all 22)
polycythemia	76.4	26	8608241 (3), 8174675 (2), 9121771 (1), 9359528 (1) (see all 16)
polycythemia vera	75.2	9	9649565 (1), 8174675 (1), 18059484 (1), 1453011 (1) (see all 8)
anemia	71.6	37	19099624 (2), 19890127 (2), 2247677 (2), 8865271 (1) (see all 26)
myeloproliferative disorders	67.2	1	8253831 (1)
polycythemia secondary	63.4	1	17493421 (1)
hemangioblastoma	42.3	4	16163267 (3), 16175858 (1)
leukemia	33.4	22	19010836 (2), 10651724 (2), 9808054 (2), 11999556 (2) (see all 12)

Genatlas disease: EPOR

erythrocytosis,primary familial polycythemia

Genetic Association Database (GAD): EPOR
Human Genome Epidemiology (HuGE) Navigator: EPOR (4 documents)
Tumor Gene Database (TGDB): EPOR

Export disorders for EPOR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for EPOR gene, integrated from 9 sources (see all 629):
(articles sorted by number of sources associating them with EPOR)

Utopia: connect your pdf to the dynamic
world of online information

Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. (PubMed id 8608241)^{1, 2, 9} Le Couedic J.-P.... Vainchenker W. (1996)
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. (PubMed id 8506290)^{1, 2, 9} de la Chapelle A.... Juvonen E. (1993)
A new high affinity binding site for suppressor of cytokine signaling-3 on the erythropoietin receptor. (PubMed id 12027890)^{1, 2, 9} Hoertner M.... Haan S. (2002)
Involvement of SH2-containing phosphotyrosine phosphatase Syp in erythropoietin receptor signal transduction pathways. (PubMed id 7534299)^{1, 2, 9} Tauchi T.... Broxmeyer H.E. (1995)
Erythropoietin receptors associate with a ubiquitin ligase, p33RUL, and require its activity for erythropoietin-induced proliferation. (PubMed id 12746455)^{1, 2, 9} Friedman A.D.... Quelle F.W. (2003)
Identification of the human erythropoietin receptor region required for Stat1 and Stat3 activation. (PubMed id 11756159)^{1, 2, 9} Kirito K....Komatsu N. (2002)
An antagonist peptide-EPO receptor complex suggests that receptor dimerization is not sufficient for activation. (PubMed id 9808045)^{1, 2, 9} Livnah O.... Wilson I.A. (1998)
Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. (PubMed id 8174675)^{1, 2, 9} Sokol L.... Prchal J.T. (1994)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Cloning and characterization of a family of proteins associated with Mpl. (PubMed id 11784712)^{1, 2} Meunier C.F....Courtois G. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2057	HGNC: 3416	AceView: EPORandRGL3	Ensembl:ENSG00000187266	euGenes: HUgn2057
ECgene: EPOR	Kegg: 2057	H-InvDB: EPOR

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for EPOR	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for EPOR	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for EPOR gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for EPOR gene:
Search GeneIP for patents involving EPOR

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics
About This Section

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erythropoietin receptor

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