V3 here soon-try beta now


Gene Search (GeneCards Home)	\|	GeneCards Guide	\|	User Feedback	\|	Terms of Use	\|	Notice about third-party sites

EPOR Gene

protein-coding GIFtS: 71

GC19M011350

erythropoietin receptor
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
EPO-R ^³
MGC138358 ^²

Descriptions
erythropoietin receptor ^²

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

Search outside databases for aliases for EPOR gene

Previous GC identifers: GC19M011619 GC19M011710 GC19M011333 GC19M011348

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

EntrezGene summary for EPOR:

The erythropoietin receptor is a member of the cytokine receptor family. Upon erythropoietin

binding, the erythropoietin 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. [provided by RefSeq]

UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235

Function: Isoform EPOR-T, missing the cytoplasmic tail, 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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the EPOR gene

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)

GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M011350: (about GC identifiers)

Start:	11,349,475 bp from pter
End:	11,356,019 bp from pter
Size:	6,545 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000019.8 NT_011295.10

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

PDB structures from and Proteopedia :

1CN4 (3D)

1EBA (3D)

1EBP (3D)

1EER (3D)

1ERN (3D)

2JIX (3D)

Secondary accessions: Q15443 Q2M205

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

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

Ubiquitinated by NOSIP; appears to be either multi-monoubiquitinated or polyubiquitinated.

Ubiquitination mediates proliferation and survival of EPO-dependent cells¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000112.1

ENSEMBL proteins:

ENSP00000222139

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for EPOR
	R&D Systems Recombinant & Natural Proteins for EPOR (Erythropoietin R)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (EPO Receptor)
	Human Recombinant Proteins from Abnova (EPOR)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0005887	integral to plasma membrane	TAS	1848667

About this table

Antibodies for EPOR:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for EPOR
	R&D Systems Antibodies for EPOR (Erythropoietin R)
	Antibodies from Abcam (EPO Receptor), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (EPOR)
	Novus Biologicals Antibodies for EPOR

Assays for EPOR:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	R&D Systems ELISAs for EPOR (Erythropoietin R) (see all)
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (EPOR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (EPOR)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000121

Applied Biosystems Silencer® siRNAs for EPOR

Sigma-Aldrich siRNA and siRNA Panels for EPOR

Sigma-Aldrich shRNA Panels and shRNA for EPOR

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000121
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000121
untagged cDNA clone in CMV expression vector: NM_000121

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000121

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, missing the cytoplasmic tail, 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

12 MGI mutant phenotypes (inferred from 13 alleles) (MGI details for Epor):

	embryogenesis	hematopoietic system	homeostasis/metabolism	immune system
lethality-prenatal/perinatal	life span-post-weaning/aging	liver/biliary system	nervous system	no phenotypic analysis
normal	respiratory system

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004900	erythropoietin receptor activity	IDA	2163696
GO:0005515	protein binding	IPI	11781573 15644415

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for EPOR (Your Favorite Gene powered by Ingenuity)

Erythropoietin Signaling

GeneDecks EPOR for the pathways selected above

About GeneDecksing

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

5/94 Interacting proteins for EPOR (P19235^{1, 2} ENSP00000222139³) via UniProtKB, MINT, and/or STRING (see all 94 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTPN6	P29350², ENSP00000326010³	MINT-77967 MINT-74899 MINT-74949 MINT-77965 MINT-74951 MINT-73490 MINT-77964 MINT-77966 MINT-73504 MINT-73509 STRING (score=.998)
SOCS2	O14508¹, ENSP00000339428³	EBI-617321, EBI-617737 STRING (score=.961)
PLCG2	P16885¹, ENSP00000352336³	EBI-617321, EBI-617403 STRING (score=.934)
PTPRB	P23467¹	EBI-617321, EBI-1265766
PTPRC	P08575¹	EBI-617321, EBI-1341

About this table

5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

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

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for EPOR:

Ligand

Browse Tocris compounds for EPOR
10/24 Novoseek chemical compound relationships for EPOR gene (see all 24 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
aclacinomycin	74.65	10	8639908 (2), 9389364 (2), 8853898 (1), 8602880 (1) (see all 5)
tyrosine	68.28	279	8276859 (8), 7527668 (7), 7961995 (7), 8068943 (6) (see all 93)
pp 100	57.46	2	8034573 (1), 9162069 (1)
gp 130	57.24	19	19002875 (2), 10858439 (1), 18500765 (1), 7869746 (1) (see all 11)
porphobilinogen	43.23	3	8639908 (1), 7858429 (1)
phosphotyrosine	40.11	9	9395308 (2), 7534299 (2), 8577729 (1), 9162069 (1) (see all 7)
phosphatidylinositol	36.62	22	8276859 (5), 8404901 (2), 10849444 (1), 19010836 (1) (see all 11)
pimonidazole	30.87	5	16112214 (3), 15671524 (1)
geranylgeranyl pyrophosphate	20.48	1	17586475 (1)
phenylalanine	18.21	8	1719554 (1), 8639815 (1), 18538998 (1), 15878737 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (EPOR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (EPOR)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000121

Sigma-Aldrich siRNA and siRNA Panels for EPOR

Sigma-Aldrich shRNA Panels and shRNA for EPOR

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000121

REFSEQ mRNAs for EPOR gene:

NM_000121.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000121

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000121
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000121
                                 untagged cDNA clone in CMV expression vector: NM_000121

Additional cDNA sequence:

AK315097.1 BC019092.2 BC112153.1 BC143697.1 BC143698.1 BC143700.1 CR592320.1 CR592865.1

CR597800.1 CR610088.1 CR613702.1 CR618473.1 CR620075.1 M34986.1 M60459.1 X57282.1

11 DOTS entries:

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

DT.91759826 DT.40124769 DT.91894612

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

BM967240 NM_000121 CR610088 AA700628 BC019092 BM688813 AA916937 BX118527

AI857845 AA341817 M34986 AA470363 CR618473 CR613702 CR620075 BQ773300

BX360123 BQ776641 BX382170 BU683058 X57282 BF988921 BX099767 CR597800

highest scoring ESTs for EPOR:

M60459 BC019092 M34986 BI199195 AK074082 AV706282 AV707186 BC112153 CN350958 DA015695

Unigene Cluster for EPOR:

Erythropoietin receptor

Hs.631624 [show with all ESTs]

Unigene Representative Sequence: BC019092

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for EPOR

1 Ensembl transcript including schematic representation:

ENST00000222139

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

EPOR expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for EPOR

¹ / ² / ³

16 probe-sets matching EPOR gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
31681_at²^{, 3}	U95-A	1	1.00	1.00	0.58	0.97	X57282	0.60	0.83	0.73	1
1087_at²^{, 3}	U95-A	1	1.00	1.00	0.98	0.84	M60459	1.00	0.90	0.95	1
396_f_at²^{, 3}	U133-A	2	1.00	0.86	0.82	1.32	X97671	0.40	1.00	0.76	1
37986_at*²^{, 3}	U133-A	2	1.00	0.50	0.98	0.90	M60459	1.00	0.90	0.95	1
209962_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M34986	0.80	0.88	0.84	1
216999_at²^{, 3}	U133-A	1	1.00	1.00	--	--	X97671	0.40	1.00	0.76	1
209963_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M34986	0.80	0.88	0.84	1
396_f_at²^{, 3}	U133-A	2	1.00	0.86	--	--	X97671	0.40	1.00	0.76	1
215054_at²^{, 3}	U133-A	1	0.27	1.00	--	--	H16758	0.60	0.83	0.73	1
37986_at*²^{, 3}	U133-A	2	1.00	0.50	--	--	M60459	1.00	0.90	0.95	1
209962_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216999_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209963_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
396_f_at²	U133Plus2	2	1.00	0.86	--	--	--	--	--	--	--
215054_at²	U133Plus2	1	0.27	1.00	--	--	--	--	--	--	--
37986_at*²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--

GeneDecks EPOR for binary patterns associated with the probe-sets selected above

About GeneDecksing

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GACACTGTGC

SOURCE GeneReport for Unigene cluster: Hs.631624
Expression variation in blood from EXPOLDB for EPOR
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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for EPOR gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	EPOR¹	--	erythropoietin receptor	85.4(n) 83.04(a)	484943 XM_542059.2 XP_542059.1
cow (Bos taurus)	EPOR¹	--	erythropoietin receptor	84.78(n) 83.66(a)	281144 XM_583711.3 XP_583711.2
rat (Rattus norvegicus)	Epor¹	--	erythropoietin receptor	81.33(n) 80.67(a)	24336 NM_017002.2 NP_058698.2
mouse (Mus musculus)	Epor^{1, 5}	9 (5.00 cM)⁵	erythropoietin receptor^{1, 5}	82.31(n)¹ 81.85(a)¹	13857¹ NM_010149.3¹ NP_034279.3¹ AK010968⁵ AK139031⁵ (see all 13)
zebrafish (Danio rerio)	epor¹	--	erythropoietin receptor	45.11(n) 33.95(a)	751109 NM_001043334.1 NP_001036799.1

About this table Species with no ortholog for EPOR

ENSEMBL Gene Tree for EPOR

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

Paralogs for EPOR gene

MPL²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/30 NCBI SNPs in EPOR are shown (see all 30 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 19)

AB	SNP ID	Valid	Chr 19 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs35423344^1,2	C,F	11350049(+)	`GGGCGG/CGTTCC`	1	A/P	mis¹		5		NA EU EA WA	484
--	rs4804163^1,2	C	11357792(+)	`aggccA/Gaggtg`	1	--	ng3¹		0	--	--	--	--
	rs35586415^1,2	F	11350076(+)	`GTCCAG/ACACCA`	1	L/L	syn¹		1		NA	42
	rs318717^1,2	A,F,H	11350862(-)	`TTTTTT/AAATTT`	1	--	int¹		7		EA NA EU WA	476
--	rs59670938^1,2	--	11356376(+)	`CTCTC-/TCTC CTTTC`	1	--	ng3¹		0	--	--	--	--
--	rs74179989^1,2	--	11356377(+)	`TCTCTC/TTCCTT`	1	--	ng3¹		0	--	--	--	--
--	rs439025^1,2	--	11356383(-)	`aaaggA/Ggagag`	1	--	ng3¹ trp³		0	--	--	--	--
--	rs62638744^1,2	--	11349877(+)	`ATGGAA/GGCAAG`	2	R/P R/L	mis¹		0	--	--	--	--
--	rs60825798^1,2	--	11350369(+)	`TACCTA/GGAAGT`	1	Q/X	non¹		0	--	--	--	--
	rs316500^1,2	--	11356006(-)	`GCGCCC/TGGTCG`	1	--	ut5¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for EPOR (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 133171 disorders: 133100

UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235

Defects in EPOR are the cause of erythrocytosis familial 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

10/72 Novoseek disease relationships for EPOR gene (see all 72 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
erythrocytosis, familial	91.71	13	17327410 (2), 10498627 (2), 9121771 (1), 9664155 (1) (see all 8)
erythrocytosis	80.14	21	15712191 (5), 11929803 (2), 8608241 (1), 9488636 (1) (see all 9)
erythroleukemia	77.13	32	8142650 (4), 8608241 (3), 1314735 (2), 17586475 (1) (see all 20)
polycythemia	75.56	23	8608241 (3), 8174675 (2), 9121771 (1), 9359528 (1) (see all 13)
polycythemia vera	74.57	9	9649565 (1), 8174675 (1), 18059484 (1), 1453011 (1) (see all 8)
anemia	70.24	31	19099624 (2), 2247677 (2), 8865271 (1), 12476588 (1) (see all 21)
myeloproliferative disorders	68.07	1	8253831 (1)
polycythemia secondary	64.94	1	17493421 (1)
hemangioblastoma	44.28	4	16163267 (3), 16175858 (1)
leukemia	34.76	22	19010836 (2), 10651724 (2), 9808054 (2), 11999556 (2) (see all 12)

About this table

1 PharmGKB disease relationship for EPOR gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12730115

About this table

Genatlas disease: EPOR

erythrocytosis,primary familial polycythemia

Human Gene Mutation Database: EPOR
Genetic Association Database: EPOR
Human Genome Epidemiology Navigator: EPOR (2 documents)
Tumor Gene Database: EPOR

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/540 PubMed articles for EPOR gene (see all 540 ):

Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. (PubMed id 8608241)^{1, 3, 4} Le Couedic J.-P.... Vainchenker W. (1996)
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. (PubMed id 8506290)^{1, 3, 4} 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, 3, 4} Hoertner M.... Haan S. (2002)
Identification of a critical ligand binding determinant of the human erythropoietin receptor. Evidence for common ligand binding motifs in the cytokine receptor family. (PubMed id 8662939)^{1, 3, 4} Middleton S.A.... Mulcahy L.S. (1996)
Involvement of SH2-containing phosphotyrosine phosphatase Syp in erythropoietin receptor signal transduction pathways. (PubMed id 7534299)^{1, 3, 4} 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, 3, 4} Friedman A.D.... Quelle F.W. (2003)
Identification of the human erythropoietin receptor region required for Stat1 and Stat3 activation. (PubMed id 11756159)^{1, 3, 4} Kirito K....Komatsu N. (2002)
An antagonist peptide-EPO receptor complex suggests that receptor dimerization is not sufficient for activation. (PubMed id 9808045)^{1, 3, 4} 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, 3, 4} 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)^{3, 4} Gerhard D.S....Malek J. (2004)

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

		AND	OR
Aliases
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, and/or H-InvDB)
About This Section

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

(According to HUGE)
About This Section

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

Name	Description
ATLAS Chromosomes in Cancer entry for EPOR	Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies for EPOR
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for EPOR:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for EPOR-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for EPOR		Antibodies for EPOR
	Explore super-pooled esiRNAs		Proteins for EPOR
	Lentivirus-delivered shRNAs for EPOR		Small molecules for EPOR
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (EPOR)
	Antibodies (EPOR)
	Chimera RNAi (EPOR)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (EPO Receptor)
	Antibodies (EPO Receptor)

Search OriGene for EPOR

Search Tocris compounds for EPOR

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for EPOR

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
EPOR Gene at Home site.
Version 2.41.1
server5.xennexinc.com

EPOR Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for EPOR

Summaries
for EPOR

Genomic Location
for EPOR

Proteins
for EPOR

Protein Domains/
Families
for EPOR

Gene Function
for EPOR

Pathways & Interactions
for EPOR

Drugs & Compounds
for EPOR

Transcripts
for EPOR

Expression
for EPOR

Orthologs
for EPOR

Paralogs
for EPOR

SNPs/Variants
for EPOR

Disorders & Mutations
for EPOR

Medical News
for EPOR

Publications
for EPOR

Search for EPOR

Genome Databases showing EPOR

Other Databases showing EPOR

Specialized Databases showing EPOR

Licensable Technologies
for EPOR

Services
for EPOR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

EPOR Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor EPOR

Summariesfor EPOR

Genomic Locationfor EPOR

Proteinsfor EPOR

Protein Domains/Familiesfor EPOR

Gene Functionfor EPOR

Pathways & Interactionsfor EPOR

Drugs & Compoundsfor EPOR

Transcriptsfor EPOR

Expression for EPOR

Orthologsfor EPOR

Paralogsfor EPOR

SNPs/Variantsfor EPOR

Disorders & Mutationsfor EPOR

Medical Newsfor EPOR

Publicationsfor EPOR

Search for EPOR

Genome Databases showing EPOR

Other Databases showing EPOR

Specialized Databases showing EPOR

Licensable Technologiesfor EPOR

Servicesfor EPOR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for EPOR

Summaries
for EPOR

Genomic Location
for EPOR

Proteins
for EPOR

Protein Domains/
Families
for EPOR

Gene Function
for EPOR

Pathways & Interactions
for EPOR

Drugs & Compounds
for EPOR

Transcripts
for EPOR

Expression
for EPOR

Orthologs
for EPOR

Paralogs
for EPOR

SNPs/Variants
for EPOR

Disorders & Mutations
for EPOR

Medical News
for EPOR

Publications
for EPOR

Licensable Technologies
for EPOR

Services
for EPOR