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EPO Gene(Protein Coding)

Erythropoietin

GCID:
GC07P100720
GIFtS:
47
Genes Participants
UDN Logo

Aliases for EPO Gene

Aliases for EPO Gene

  • Erythropoietin 2 3 3 5
  • Epoetin 3 4
  • ECYT5 3
  • MVCD2 3
  • DBAL 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 encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]

GeneCards Summary for EPO Gene

EPO (Erythropoietin) is a Protein Coding gene. Diseases associated with EPO include Diamond-Blackfan Anemia-Like and Erythrocytosis, Familial, 5. Among its related pathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Development Angiotensin activation of ERK. Gene Ontology (GO) annotations related to this gene include hormone activity and erythropoietin receptor binding.

UniProtKB/Swiss-Prot for EPO Gene

  • Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3.

Gene Wiki entry for EPO Gene

Additional gene information 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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EPO Gene

Promoters and enhancers for EPO Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07J100719 Enhancer 0.8 ENCODE 650.7 -1.0 -967 0.2 FOXA2 ARID4B DMAP1 RARA CREM RXRA RCOR2 KDM1A HNF4A FOXP1 EPO POP7
GH07J100720 Promoter 0.6 EPDnew 650.7 0.0 -47 0.1 EZH2 EPO POP7
GH07J100704 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 0.4 -14.6 -14560 2.9 CLOCK MLX DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC ZFP41 ZNF610 POP7 ZSCAN21 SRRT STAG3L5P GIGYF1 ENSG00000242798 ZNF3 AP4M1 TRIM4 PILRB
GH07J100725 Enhancer 1.1 Ensembl ENCODE 0.4 +5.7 5703 2.7 PKNOX1 FOXA2 ARNT ARID4B SIN3A ZBTB7B ARID2 ZNF143 FOS NFKBIZ MOSPD3 LOC102724094 EPO ZAN
GH07J100733 Promoter 0.5 EPDnew 0.4 +12.8 12776 0.1 ZAN EPO
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPO on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPO gene promoter:
  • AP-1
  • GATA-1
  • p300
  • deltaCREB
  • CREB
  • ATF-2
  • c-Jun

Genomic Locations for EPO Gene

Genomic Locations for EPO Gene
chr7:100,720,800-100,723,700
(GRCh38/hg38)
Size:
2,901 bases
Orientation:
Plus strand
chr7:100,318,423-100,321,323
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for EPO Gene

Proteins for EPO Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 Ser153, Asn110, Asn65, and Asn51
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for EPO Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EPO Gene

Domains & Families for EPO Gene

Gene Families for EPO Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for EPO Gene

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for EPO Gene

UniProtKB/Swiss-Prot Function:
Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3.
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

LifeMap Function Summary for EPO Gene

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

Phenotypes From GWAS Catalog for EPO Gene

Gene Ontology (GO) - Molecular Function for EPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IDA 28283061
GO:0005128 erythropoietin receptor binding IMP 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:
  • Epo Epo<tm1Jae>

Animal Model Products

miRNA for EPO Gene

miRTarBase miRNAs that target EPO

Clone Products

  • Addgene plasmids 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 IEA,IDA 14569084
GO:0009986 cell surface IDA 14569084
GO:0044297 cell body IEA --
genes like me logo Genes that share ontologies with EPO: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPO Gene

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 by RNA polymerase II IMP 16497104
GO:0001666 response to hypoxia IEA --
GO:0006357 regulation of transcription by RNA polymerase II 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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved Pharma 1259
Benzocaine Approved, Investigational Pharma 2232
Darbepoetin alfa Approved, Investigational Pharma 197
Lenograstim Approved, Investigational Pharma 1263
Panobinostat Approved, Investigational Pharma Histone deacetylase (HDAC)inhibitors 136

(54) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

Clone Products

  • Addgene plasmids 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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for EPO Gene
mRNA expression by BioGPS for EPO GenemRNA expression by GTEx 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(4.6)
  • Urine(4.4)
  • Blood(3.5)
  • Bone marrow(3.3)
  • Kidney(3.1)
  • Liver(2.8)
  • Heart(2.6)
  • Muscle(2.3)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with EPO: view

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 33
  • 99.48 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia EPO 34 33
  • 86.75 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia EPO 34 33
  • 85.69 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Epo 16 34 33
  • 80.52 (n)
rat
(Rattus norvegicus)
 Mammalia Epo 33
  • 79.92 (n)
oppossum
(Monodelphis domestica)
 Mammalia EPO 34
  • 55 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia epo 33
  • 49.56 (n)
zebrafish
(Danio rerio)
 Actinopterygii epo 34 33
  • 48.83 (n)
 OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for EPO: view image

Paralogs for EPO Gene

No data available for Paralogs for EPO Gene

Variants for EPO Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for EPO Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1617640 risk-factor, Microvascular complications of diabetes 2 100,719,675(+) C/A upstream_transcript_variant
VAR_009871 A hepatocellular carcinoma p.Pro149Gln
rs1001117144 -- 100,719,744(+) T/C upstream_transcript_variant
rs1001251654 -- 100,723,270(+) A/G 3_prime_UTR_variant
rs1003573837 -- 100,721,619(+) C/T coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for EPO Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EPO Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
diamond-blackfan anemia-like
  • dbal
erythrocytosis, familial, 5
  • ecyt5
microvascular complications of diabetes 2
  • proliferative retinopathy, diabetic
pure red-cell aplasia
  • primary red cell aplasia
uremia
  • uremia of renal origin
- 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.
  • Note=Congenital hypoplastic anemia is a rare condition caused by mutation in EPO that lead to anemia and elevated EPO levels. {ECO:0000269 PubMed:28283061}.

Additional Disease Information for EPO

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 44 58
  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) Glöckner G … Rosenthal A (Genome research 1998) 2 3 4 58
  3. Isolation and characterization of genomic and cDNA clones of human erythropoietin. (PMID: 3838366) Jacobs K … Fritsch EF (Nature 1985) 2 3 4 58
  4. Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. (PMID: 28283061) Kim AR … Sankaran VG (Cell 2017) 3 4 58
  5. 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 SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for EPO Gene

  • Addgene plasmids for EPO

Sources for EPO Gene

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