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Aliases for EPO Gene

Aliases for EPO Gene

  • Erythropoietin 2 3 3 5
  • Epoetin 3 4
  • MVCD2 3
  • EP 3

External Ids for EPO Gene

Previous GeneCards Identifiers for EPO Gene

  • GC07P098853
  • GC07P099916
  • GC07P099929
  • GC07P099963
  • GC07P100156
  • GC07P100318
  • GC07P094949

Summaries for EPO Gene

Entrez Gene Summary for EPO Gene

  • 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]

GeneCards Summary for EPO Gene

EPO (Erythropoietin) is a Protein Coding gene. Diseases associated with EPO include Microvascular Complications Of Diabetes 2 and Deficiency Anemia. Among its related pathways are Development EPO-induced Jak-STAT pathway and Differentiation Pathway. GO annotations related to this gene include hormone activity and erythropoietin receptor binding.

UniProtKB/Swiss-Prot for EPO Gene

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPO Gene

Genomics for EPO Gene

Regulatory Elements for EPO Gene

Enhancers for EPO Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G100719 0.8 ENCODE 0.7 -1.0 -968 0.2 SOX13 ZNF792 SAP130 ARID4B ZMYM3 DMAP1 RARA TEAD3 GATAD1 NCOR1 EPO POP7
GH07G100725 1.2 Ensembl ENCODE 0.4 +5.7 5703 2.7 PKNOX1 CBX3 FOXA2 ARNT ARID4B SIN3A ZBTB40 ZBTB7B RAD21 RARA MOSPD3 LOC102724094 EPO ZAN
GH07G100704 1.2 ENCODE 0.4 -14.6 -14561 2.9 MLX CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZFP41 ZNF610 AP4M1 GIGYF1 PCOLCE-AS1 STAG3L5P CNPY4 MUC3A POP7 EPO
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPO on UCSC Golden Path with GeneCards custom track

Genomic Location for EPO Gene

Chromosome:
7
Start:
100,720,800 bp from pter
End:
100,723,700 bp from pter
Size:
2,901 bases
Orientation:
Plus strand

Genomic View for EPO Gene

Genes around EPO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPO Gene

Proteins for EPO Gene

  • Protein details for EPO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01588-EPO_HUMAN
    Recommended name:
    Erythropoietin
    Protein Accession:
    P01588
    Secondary Accessions:
    • Q2M2L6
    • Q549U2
    • Q9UDZ0
    • Q9UEZ5
    • Q9UHA0

    Protein attributes for EPO Gene

    Size:
    193 amino acids
    Molecular mass:
    21307 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for EPO Gene

neXtProt entry for EPO Gene

Post-translational modifications for EPO Gene

  • Glycosylation at Asn51, isoforms=65, isoforms=110, and Ser153
  • Modification sites at PhosphoSitePlus

Other Protein References for EPO Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Protein Products

Assay Products

No data available for DME Specific Peptides for EPO Gene

Domains & Families for EPO Gene

Gene Families for EPO Gene

Suggested Antigen Peptide Sequences for EPO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01588

UniProtKB/Swiss-Prot:

EPO_HUMAN :
  • Belongs to the EPO/TPO family.
Family:
  • Belongs to the EPO/TPO family.
genes like me logo Genes that share domains with EPO: view

Function for EPO Gene

Molecular function for EPO Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Erythropoietin is the principal hormone involved in the regulation of erythrocyte differentiation and the maintenance of a physiological level of circulating erythrocyte mass.

LifeMap Function Summary for EPO Gene

EPO as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for EPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005128 erythropoietin receptor binding IMP,IEA 28283061
GO:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 9774108
GO:0030295 protein kinase activator activity IEA --
genes like me logo Genes that share ontologies with EPO: view
genes like me logo Genes that share phenotypes with EPO: view

Animal Models for EPO Gene

MGI Knock Outs for EPO:

Animal Model Products

miRNA for EPO Gene

miRTarBase miRNAs that target EPO

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPO
  • Applied Biological Materials Clones for EPO

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPO Gene

Localization for EPO Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPO Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPO gene
Compartment Confidence
extracellular 5
cytosol 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for EPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 14569084
GO:0009986 cell surface IDA 14569084
GO:0044297 cell body IEA --
genes like me logo Genes that share ontologies with EPO: view

Pathways & Interactions for EPO Gene

genes like me logo Genes that share pathways with EPO: view

SIGNOR curated interactions for EPO Gene

Activates:

Gene Ontology (GO) - Biological Process for EPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 16497104
GO:0001666 response to hypoxia IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006915 apoptotic process IEA --
GO:0006953 acute-phase response IEA --
genes like me logo Genes that share ontologies with EPO: view

Drugs & Compounds for EPO Gene

(103) Drugs for EPO Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved Pharma 1165
Benzocaine Approved Pharma 2016
Darbepoetin alfa Approved, Investigational Pharma 177
Lenograstim Approved Pharma 1220
Panobinostat Approved, Investigational Pharma Histone deacetylase (HDAC)inhibitors 135

(57) Additional Compounds for EPO Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EPO: view

Transcripts for EPO Gene

mRNA/cDNA for EPO Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPO Gene

Erythropoietin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPO
  • Applied Biological Materials Clones for EPO

Alternative Splicing Database (ASD) splice patterns (SP) for EPO Gene

No ASD Table

Relevant External Links for EPO Gene

GeneLoc Exon Structure for
EPO
ECgene alternative splicing isoforms for
EPO

Expression for EPO Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPO Gene

mRNA differential expression in normal tissues according to GTEx for EPO Gene

This gene is overexpressed in Liver (x36.9) and Pancreas (x5.4).

NURSA nuclear receptor signaling pathways regulating expression of EPO Gene:

EPO

SOURCE GeneReport for Unigene cluster for EPO Gene:

Hs.2303

mRNA Expression by UniProt/SwissProt for EPO Gene:

P01588-EPO_HUMAN
Tissue specificity: Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals.

Evidence on tissue expression from TISSUES for EPO Gene

  • Nervous system(4.5)
  • Urine(4.4)
  • Blood(3.5)
  • Bone marrow(3.3)
  • Kidney(3.1)
  • Liver(2.7)
  • Heart(2.6)
  • Muscle(2.3)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with EPO: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPO Gene

Orthologs for EPO Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPO 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia EPO 34 35
  • 86.75 (n)
cow
(Bos Taurus)
Mammalia EPO 34 35
  • 85.69 (n)
mouse
(Mus musculus)
Mammalia Epo 34 16 35
  • 80.52 (n)
rat
(Rattus norvegicus)
Mammalia Epo 34
  • 79.92 (n)
oppossum
(Monodelphis domestica)
Mammalia EPO 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epo 34
  • 49.56 (n)
zebrafish
(Danio rerio)
Actinopterygii epo 34 35
  • 48.83 (n)
Species where no ortholog for EPO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EPO Gene

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

Paralogs for EPO Gene

No data available for Paralogs for EPO Gene

Variants for EPO Gene

Sequence variations from dbSNP and Humsavar for EPO Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_009871 A hepatocellular carcinoma
rs1617640 other 100,719,675(-) CCAGA(G/T)GAGTG upstream-variant-2KB
rs1001117144 -- 100,719,744(+) GGTGT(C/T)AGCTG upstream-variant-2KB
rs1001251654 -- 100,723,270(+) GTGCC(A/G)GCAAT utr-variant-3-prime
rs1003573837 -- 100,721,619(+) CCAGT(C/T)CTGGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for EPO Gene

Variant ID Type Subtype PubMed ID
dgv1940e212 CNV loss 25503493
esv2734888 CNV deletion 23290073
esv3572021 CNV loss 25503493
nsv1020837 CNV loss 25217958
nsv470381 CNV loss 18288195
nsv607933 CNV gain 21841781
nsv8184 CNV loss 18304495
nsv831072 CNV loss 17160897

Variation tolerance for EPO Gene

Residual Variation Intolerance Score: 76.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPO Gene

Human Gene Mutation Database (HGMD)
EPO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPO

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPO Gene

Disorders for EPO Gene

MalaCards: The human disease database

(92) MalaCards diseases for EPO Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microvascular complications of diabetes 2
  • diabetic end-stage renal disease
deficiency anemia
  • anemia
pure red-cell aplasia
  • primary red cell aplasia
uremia
  • uremia of renal origin
acquired polycythemia
  • polycythemia, secondary
- elite association - COSMIC cancer census association via MalaCards
Search EPO in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPO_HUMAN
  • Microvascular complications of diabetes 2 (MVCD2) [MIM:612623]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for EPO

Genetic Association Database (GAD)
EPO
Human Genome Epidemiology (HuGE) Navigator
EPO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPO
genes like me logo Genes that share disorders with EPO: view

No data available for Genatlas for EPO Gene

Publications for EPO Gene

  1. Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. (PMID: 18458324) Tong Z. … Zhang K. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 4 46 64
  2. 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. (PMID: 9799793) Gloeckner G. … Rosenthal A. (Genome Res. 1998) 2 3 4 64
  3. Isolation and characterization of genomic and cDNA clones of human erythropoietin. (PMID: 3838366) Jacobs K. … Miyake T. (Nature 1985) 2 3 4 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Significant association between polymorphism of the erythropoietin gene promoter and myelodysplastic syndrome. (PMID: 21078205) Ma W. … Albitar M. (BMC Med. Genet. 2010) 3 46 64

Products for EPO Gene

  • Addgene plasmids for EPO

Sources for EPO Gene

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