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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EPO Gene

protein-coding GIFtS: 64
GCID: GC07P100318

erythropoietin

Explore 316 diseases affiliated with
EPO 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

Aliases
Erythropoietin¹
EP¹ ²
MVCD2² ⁵
Epoetin³
Epoetin³

External Ids:	HGNC: 3415¹	Entrez Gene: 2056²	Ensembl: ENSG00000130427⁷	OMIM: 133170⁵	UniProtKB: P01588³

Export aliases for EPO gene to outside databases

Previous GC identifers: GC07P098853 GC07P099916 GC07P099929 GC07P099963 GC07P100156 GC07P094949

(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 EPO:

This gene is a member of the EPO/TPO family and encodes a secreted, glycosylated cytokine composed of four alpha

helical bundles. The protein is found in the plasma and regulates red cell production by promoting erythroid

differentiation and initiating hemoglobin synthesis. This protein also has neuroprotective activity against a variety

of potential brain injuries and antiapoptotic functions in several tissue types. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: EPO_HUMAN, P01588

Function: Erythropoietin is the principal hormone involved in the regulation of erythrocyte differentiation and the

maintenance of a physiological level of circulating erythrocyte mass

Gene Wiki entry for EPO (Erythropoietin)

(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_000007.13 NC_018918.1 NT_007933.15 NT_079595.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EPO gene promoter:
CREB AP-1 ATF-2 deltaCREB p300 c-Jun GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EPO promoter sequence

Search SABiosciences Chromatin IP Primers for EPO

Epigenetics:

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

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

Entrez Gene cytogenetic band: 7q22 Ensembl cytogenetic band: 7q22.1 HGNC cytogenetic band: 7q21

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

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P100318: view genomic region (about GC identifiers)

Start:	100,318,423 bp from pter	End:	100,321,323 bp from pter
Size:	2,901 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 99,678,028-99,680,928

(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: EPO_HUMAN, P01588 (See protein sequence)

Recommended Name: Erythropoietin precursor

Size: 193 amino acids; 21307 Da

Subcellular location: Secreted

3 PDB 3D structures from and Proteopedia for EPO:

1BUY (3D)

1CN4 (3D)

1EER (3D)

Secondary accessions: Q2M2L6 Q549U2 Q9UDZ0 Q9UEZ5 Q9UHA0

Explore the universe of human proteins at neXtProt for EPO: NX_P01588

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01588

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

REFSEQ proteins: NP_000790.2

ENSEMBL proteins:

ENSP00000252723

Reactome Protein details: P01588
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Novus Biologicals EPO Proteins Novus Biologicals EPO Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for EPO
	Uscn Proteins for EPO

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	TAS	--
GO:0005615	extracellular space	IDA	14569084

EPO for ontologies About GeneDecksing

EPO Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of EPO
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	Novus Biologicals EPO Antibodies
	Search for Antibodies for EPO at Abcam
	Uscn Antibodies for EPO
	ThermoFisher Antibodies for EPO

Assay Products for EPO:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for EPO
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for EPO

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

EPO for domains About GeneDecksing

5 InterPro domains/families:

IPR012351 4_helix_cytokine_core

IPR019767 EPO/TPO_CS

IPR001323 EPO_TPO

IPR009079 4_helix_cytokine-like_core

IPR003013 Erythroptn

Graphical View of Domain Structure for InterPro Entry P01588

ProtoNet protein and cluster: P01588

1 Blocks protein family: IPB003013 Erythropoietin signature

UniProtKB/Swiss-Prot: EPO_HUMAN, P01588

Similarity: Belongs to the EPO/TPO family

(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: EPO_HUMAN, P01588

Function: Erythropoietin is the principal hormone involved in the regulation of erythrocyte differentiation and the

maintenance of a physiological level of circulating erythrocyte mass

Genatlas biochemistry entry for EPO:

erythropoietin,46kDa,expressed in liver and kidney,stimulating cellular differentiation of bone marrow cells at an

early stage,activating a voltage independent calcium channel dependent on tyrosine phosphorylation

Summary:

EPO as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Erythroid progenitor cells, Erythroid-like cells (see all 4).

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPO
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate EPO (see all 11):
		hsa-miR-320a hsa-miR-3194-5p hsa-miR-125a-5p hsa-miR-122 hsa-miR-320d hsa-miR-1291 hsa-miR-320b hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: EPO 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 EPO (see all 7) OriGene shRNA RFP: EPO OriGene siRNA: EPO
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPO

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for EPO

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 EPO (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EPO OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: EPO (NM_000799)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPO
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPO

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

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPO

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005128	erythropoietin receptor binding	IEA	--
GO:0005179	hormone activity	IEA	--
GO:0005515	protein binding	IPI	9774108
GO:0030295	protein kinase activator activity	IEA	--
GO:0043499	eukaryotic cell surface binding	IDA	14569084

EPO for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Epo^tm1Jae for EPO
     9 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Epo):

cardiovascular system	cellular	embryogenesis	hematopoietic system	homeostasis/metabolism
integument	liver/biliary system	mortality/aging	normal

EPO 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 - 5/16 super-pathways (see all 16) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

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

Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha

	Cellular responses to stress	0.72			Regulation of Hypoxia-inducible Factor (HIF) by Oxygen	0.72
	Cellular response to hypoxia	0.72

G-protein signaling K-RAS regulation pathway

G-protein signaling K-RAS regulation pathway

1.00

G-protein signaling_K-RAS regulation pathway

0.96

Development Angiotensin signaling via PYK2

Development_EPO-induced MAPK pathway

0.49

Development EPO-induced MAPK pathway

0.49

Expression of Erythropoietin (EPO)

Expression of Erythropoietin (EPO)

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for EPO

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

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EPO

	Erythropoietin Pathway
	HIF1Alpha Pathway
	JAK-STAT Pathway

3 GeneGo (Thomson Reuters) Pathways for EPO

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

5/6 BioSystems Pathways for EPO (see all 6)

	EPO Receptor Signaling
	HIF-2-alpha transcription factor network
	EPO signaling pathway
	Paxillin-independent events mediated by a4b1 and a4b7
	HIF-1-alpha transcription factor network

5 Reactome Pathways for EPO

	Cellular response to hypoxia
	Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
	Regulation of Gene Expression by Hypoxia-inducible Factor
	Expression of Erythropoietin (EPO)
	Cellular responses to stress

3 Kegg Pathways (Kegg details for EPO):

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

EPO for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for EPO (P01588^{1, 3} ENSP00000252723⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EPOR	P19235¹^,³, ENSP00000222139⁴	EBI-1027362,EBI-617321 I2D: score=5 STRING: ENSP00000222139
DOK2	O60496³, ENSP00000276420⁴	I2D: score=1 STRING: ENSP00000276420
EP300	ENSP00000263253⁴	STRING: ENSP00000263253
RECQL5	ENSP00000317636⁴	STRING: ENSP00000317636

About this table

Gene Ontology (GO): 5/38 biological process terms (GO ID links to tree view) (see all 38): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	--	--
GO:0001934	positive regulation of protein phosphorylation	--	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	--	--
GO:0006915	apoptotic process	IEA	--
GO:0007165	signal transduction	NAS	3838366

EPO 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

EPO for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EPO
UniProtKB/Swiss-Prot: EPO_HUMAN, P01588

Pharmaceutical: Used for the treatment of anemia. Available under the names Epogen (Amgen), Epogin (Chugai), Epomax

(Elanex), Eprex (Janssen-Cilag), NeoRecormon or Recormon (Roche), Dynepo (Shire Pharmaceuticals) and Procrit (Ortho

Biotech). Variations in the glycosylation pattern of EPO distinguishes these products. Epogen, Epogin, Eprex and

Procrit are generically known as epoetin alfa, NeoRecormon and Recormon as epoetin beta, Dynepo as epoetin delta and

Epomax as epoetin omega. Epoetin zeta is the name used for some 'biosimilars' forms of epoetin alfa and is available

under the names Silapo (Stada) and Retacrit (Hospira). Darbepoetin alfa is a form created by 5 substitutions (Asn-57,

Thr-59, Val-114, Asn-115 and Thr-117) that create 2 new N-glycosylation sites. It has a longer circulating half-life

in vivo. It is available under the name Aranesp (Amgen). EPO is being much misused as a performance-enhancing drug in

endurance athletes

10/134 Novoseek chemical compound relationships for EPO gene (see all 134) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
iron sucrose	89.9	132	19567093 (4), 11262469 (4), 18067104 (3), 16371604 (3) (see all 75)
iron	89.6	2488	10850644 (10), 8671972 (9), 9590194 (7), 8350509 (7) (see all 99)
eprex	88.5	49	16028020 (2), 15824129 (2), 15958820 (2), 14974359 (2) (see all 37)
nesp	86.5	124	16286456 (7), 16598197 (6), 17534608 (6), 15728783 (5) (see all 49)
epoetin beta	81.9	23	12910374 (3), 9209004 (2), 9743294 (1), 12886047 (1) (see all 19)
epogen	80.3	20	11575840 (3), 8518098 (2), 10779035 (1), 2025050 (1) (see all 15)
iron dextran	79.1	38	8716991 (4), 9415935 (3), 1361849 (2), 1751102 (1) (see all 25)
recormon	79.1	19	18239805 (2), 7728837 (1), 1612854 (1), 11569479 (1) (see all 11)
cilag	73.8	6	1415368 (1), 1361846 (1), 1948755 (1), 9156931 (1) (see all 6)
ferric gluconate	73.2	18	18216316 (5), 19260610 (2), 12778887 (1), 18578008 (1) (see all 7)

Search CenterWatch for drugs/clinical trials and news about EPO

(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 EPO gene:

NM_000799.2

Unigene Cluster for EPO:

Erythropoietin

Hs.2303 [show with all ESTs]

Unigene Representative Sequence: X02157

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000252723(uc011kkc.1 uc003uwi.3)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPO
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate EPO (see all 11):
		hsa-miR-320a hsa-miR-3194-5p hsa-miR-125a-5p hsa-miR-122 hsa-miR-320d hsa-miR-1291 hsa-miR-320b hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: EPO 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 EPO (see all 7) OriGene shRNA RFP: EPO OriGene siRNA: EPO
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPO

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		GenScript: all cDNA clones in your preferred vector: EPO (NM_000799)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPO
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPO

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

Additional cDNA sequence:

BC093628.1 BC111937.1 BC143225.1 JN849371.1 S65458.1 X02157.1

1 DOTS entry:

DT.452249

12 AceView cDNA sequences:

BM931641 T29272 BX094354 BQ185758 AI620493 X02157 NM_000799 AI400428

BM931504 W93118 AW951227 AA662379

GeneLoc Exon Structure

(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

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

About this image

EPO expression in embryonic tissues and stem cells

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

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

SOURCE GeneReport for Unigene cluster: Hs.2303

UniProtKB/Swiss-Prot: EPO_HUMAN, P01588

Tissue specificity: Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals

SABiosciences Expression via Pathway-Focused PCR Arrays including EPO (see all 7):

Circadian Rhythms in human mouse rat

Cancer PathwayFinder in human mouse rat

Signal Transduction PathwayFinder in human mouse rat

Hypoxia Signaling Pathway in human mouse rat

Apoptosis 384HT in human mouse rat

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

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPO

(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 EPO gene from 2/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Epo^{1 , 5}	erythropoietin^{1, 5}	80.03(n)¹ 79.17(a)¹		5 (76.50 cM)⁵ 13856¹ NM_007942.2¹ NP_031968.1¹ 137482259⁵
zebrafish (Danio rerio)	Actinopterygii	epo¹	erythropoietin	49.02(n) 38.82(a)		100004455 NM_001115128.1 NP_001108600.1

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

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

(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 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs6977067^1,2	C	--	99676250(+)	`GCGGGC/TTGCTG`	1	--	us2k¹		2		NA	4
rs10249669^1,2	H	--	99676651(+)	`tgccaT/Agttgt`	1	--	us2k¹		4		NS EA	388
rs75085169^1,2	F,	--	99678688(+)	`GGAAGG/CACGAG`	1	--	int¹		1		WA	118
rs77762674^1,2	C,	--	99678809(+)	`GGCTTC/TTCCTG`	2	L F	mis¹		0	--	--	--	--
rs74701778^1,2	C,	--	99679021(+)	`GGTTTG/AGGGTG`	1	--	int¹		1		NA	120
rs80106374^1,2		--	99679030(+)	`TGGAGT/CTGGGA`	1	--	int¹		1		NA	120
rs78511541^1,2	F,	--	99679511(+)	`ATCTCT/CACAAA`	1	--	int¹		1		WA	118
rs7789679^1,2	C,F,	--	99679826(+)	`TTGGGG/ACTGCT`	1	--	int¹		1		NA	120
rs202242218^1,2	C	--	99680424(+)	`CACCCC/TCCCCC`	1	--	ut3¹		0	--	--	--	--
rs78182250^1,2	F,	--	99680628(+)	`AGAGCC/GATGCT`	1	--	ut3¹		2		WA NA	238

HapMap Linkage Disequilibrium report for EPO (100318423 - 100321323 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for EPO
1 CNV: 4550
Human Gene Mutation Database (HGMD): EPO

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EPO

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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

EPO for disorders           About GeneDecksing

OMIM gene information: 133170
OMIM disorders: 612623
UniProtKB/Swiss-Prot: EPO_HUMAN, P01588

Genetic variation in EPO is associated with susceptbility to microvascular complications of diabetes type 2

(MVCD2) [MIM:612623]. These are pathological conditions that develop in numerous tissues and organs as a consequence

of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and

diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is

characterized by vascular permeability and increased tissue ischemia and angiogenesis

20/316 diseases for EPO (see all 316): About MalaCards

pure red-cell aplasia brain injury rh isoimmunization iron-refractory iron deficiency anemia

diamond-blackfan anemia acquired pure red cell aplasia open-angle glaucoma von hippel-lindau disease

gastric antral vascular ectasia vibrio vulnificus infection placental site trophoblastic tumor spinal cord injury

porphyria cutanea tarda iron deficiency anemia high blood pressure paroxysmal nocturnal hemoglobinuria

lysinuric protein intolerance pyruvate kinase deficiency microvascular complications of diabetes 2 primary open angle glaucoma

18 diseases from the University of Copenhagen DISEASES database for EPO:

Anemia Kidney failure Polycythemia Hypertension

Myeloma Nutrition disease Thalassemia Heart disease

Leukemia Cerebrovascular accident Neutropenia Thrombocytopenia

Hypertensive encephalopathy Sickle cell anemia Hyperparathyroidism Diabetes mellitus

Liver disease Retinopathy of prematurity

10/95 Novoseek disease relationships for EPO gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
anemia	96.8	5977	7557862 (7), 10827238 (7), 12713065 (7), 1421381 (6) (see all 99)
erythrocytosis	89.7	261	14564105 (7), 15712191 (5), 15477203 (4), 7567437 (4) (see all 99)
iron deficiency	89.2	295	12647284 (4), 15784734 (4), 9352960 (3), 8524494 (3) (see all 99)
renal failure chronic	89	1029	1339766 (4), 8552143 (4), 10850644 (3), 2220877 (3) (see all 99)
polycythemia	85.6	205	16231451 (4), 12393546 (4), 15217714 (3), 16769575 (3) (see all 99)
anemia severe	82.9	111	19923094 (4), 15792921 (2), 12234311 (2), 8938689 (2) (see all 84)
red cell aplasia	82.4	112	15172775 (4), 16449549 (3), 8596164 (2), 8488547 (2) (see all 79)
polycythemia vera	80.9	75	9475763 (4), 17980427 (2), 9731054 (2), 9292543 (2) (see all 52)
myelodysplastic syndromes	79.9	283	1961041 (3), 7505147 (3), 8398823 (2), 8411647 (2) (see all 99)
renal disease	79.7	497	16099877 (4), 15498082 (3), 16889570 (3), 17210593 (3) (see all 99)

Human Genome Epidemiology (HuGE) Navigator: EPO (67 documents)

Export disorders for EPO 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 EPO gene, integrated from 9 sources (see all 4484):
(articles sorted by number of sources associating them with EPO)

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

Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. (PubMed id 9799793)^{1, 2, 3} Gloeckner G.... Rosenthal A. (1998)
Isolation and characterization of genomic and cDNA clones of human erythropoietin. (PubMed id 3838366)^{1, 2, 3} Jacobs K.... Miyake T. (1985)
Gene expression of mutant erythropoietin in hepatocellular carcinoma. (PubMed id 8396923)^{1, 2, 9} Funakoshi A.... Shimizu S. (1993)
Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. (PubMed id 18458324)^{1, 2} Tong Z.... Zhang K. (2008)
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)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Efficiency of signalling through cytokine receptors depends critically on receptor orientation. (PubMed id 9774108)^{1, 2} Syed R.S.... Stroud R.M. (1998)
Structures and functional roles of the sugar chains of human erythropoietins. (PubMed id 1820196)^{1, 2} Takeuchi M. and Kobata A. (1991)
Comparative study of the asparagine-linked sugar chains of human erythropoietins purified from urine and the culture medium of recombinant Chinese hamster ovary cells. (PubMed id 3346214)^{1, 2} Takeuchi M....Kobata A. (1988)
Site-specific glycosylation of human recombinant erythropoietin: analysis of glycopeptides or peptides at each glycosylation site by fast atom bombardment mass spectrometry. (PubMed id 3219367)^{1, 2} Sasaki H.... Fukuda M. (1988)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 2056	HGNC: 3415	AceView: EPO	Ensembl:ENSG00000130427	euGenes: HUgn2056
ECgene: EPO	Kegg: 2056	H-InvDB: EPO

(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 EPO	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for EPO	Genetics and Cytogenetics in Oncology and Haematology
R&D Systems' cytokine source book: Erythropoietin	http://www.rndsystems.com/molecule_detail.aspx?m=1405
Wikipedia	http://en.wikipedia.org/wiki/Erythropoietin

Intellectual Property for EPO gene
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Patent Information for EPO gene:
Search GeneIP for patents involving EPO

GeneCards and IP:
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Hematologic Effects
Polycythemia
Anemia Neonatal
Hemolytic disease
Prematurity
Myelofibrosis
Anemia Hemolytic
Erythroleukemia
SECONDARY ANEMIA
Red Cell Aplasia
Aplasia
5q- SYNDROME
Hypotension Orthostatic
Iron deficiency anemia
Hyperparathyroidism Secondary
Myeloid Metaplasia
Erythroid hyperplasia
Cancer
Hemolysis
Thrombocytopenia
Rh hemolytic disease
Nonregenerative anemia
Splenomegaly
MICROCYTIC ANEMIA
RENAL DISEASE
Myeloproliferative Disorders
Macrocytosis
MARROW HYPERCELLULAR
Malnutrition
Anemia Hypoplastic Congenital
Inflammation
HEMATOLOGIC DISORDERS
iron deficiency
Diabetic Nephropathies
Polycythemia secondary
SICKLE CELL DISEASE
Neutropenia
Anemia
MYELOMA
ANEMIA SEVERE
Renal Failure
AUTONOMIC NEUROPATHY
DIAMOND-BLACKFAN ANEMIA
Thrombosis
Hypertensive Encephalopathy
Anemia Refractory
Hemosiderosis
Chronic Disease
Thrombocytosis
Blood Loss Surgical
Critically Ill
renal hypoxia
Thalassemia
HYPOPLASIA ERYTHROID
Polycystic Kidney Diseases
Anemia progressive
Red-Cell Aplasia Pure
Hyperparathyroidism
Agnogenic Myeloid Metaplasia
ACUTE LEUKEMIA
Fetal hypoxia
Myeloid Leukemia Chronic
Leukemia
Pancytopenia
Heart Failure Congestive
hypoalbuminemia
Intermedia thalassemia
beta-Thalassemia
Hemangioblastoma
Anemia postpartum
FOLATE DEFICIENCY
Uremia
HEART FAILURE
Polycythemia relative
Polycythemia Vera
cytopenia
Rh Isoimmunization
Arteriovenous Fistula
Hemoglobinopathies
Bleeding
Erythrocytosis
NORMOCYTIC ANEMIA
solid tumor
ERYTHROBLASTOPENIA, TRANSIENT
idiopathic myelofibrosis
ERYTHROCYTOSIS, FAMILIAL
primary myelofibrosis
ventricular hypertrophy
Iron Overload
Anemia Aplastic
chronic disease anemia
Thrombocythemia Essential
Bone Marrow Diseases
Myelodysplastic Syndromes
Renal Failure Chronic

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