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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 ... See more...
Aliases for EPO Gene
External Ids for EPO Gene
- HGNC: 3415
- NCBI Entrez Gene: 2056
- Ensembl: ENSG00000130427
- OMIM®: 133170
- UniProtKB/Swiss-Prot: P01588
Previous GeneCards Identifiers for EPO Gene
- GC07P098853
- GC07P099916
- GC07P099929
- GC07P099963
- GC07P100156
- GC07P100318
- GC07P094949
Summaries 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 PEDF Induced Signaling and Paxillin-dependent events mediated by a4b1. Gene Ontology (GO) annotations related to this gene include hormone activity and erythropoietin receptor binding.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for EPO Gene
- HGNC (3415)
- NCBI Entrez Gene (2056)
- Ensembl (ENSG00000130427)
- OMIM® (133170)
- UniProtKB/Swiss-Prot (P01588)
- Open Targets Platform(ENSG00000130427)
- Monarch Initiative
- Search for EPO at DataMed
- Search for EPO at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPO Gene
Genomics for EPO Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for EPO Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPO
- Top Transcription factor binding sites by QIAGEN in the EPO gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- CREB
- deltaCREB
- GATA-1
- p300
Genomic Locations for EPO Gene
Latest Assembly
- chr7:100,720,468-100,723,700
- (GRCh38/hg38)
- Size:
- 3,233 bases
- Orientation:
- Plus strand
Previous Assembly
- chr7:100,318,091-100,321,323
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 3,233 bases
- Orientation:
- Plus strand
- chr7:100,318,423-100,321,323
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 7q22.1 by HGNC
- 7q22.1 by Entrez Gene
- 7q22.1 by Ensembl
EPO Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q2M2L6
- Q549U2
- Q9UDZ0
- Q9UEZ5
- Q9UHA0
Protein attributes for EPO Gene
- Size:
- 193 amino acids
- Molecular mass:
- 21307 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for EPO Gene
Other Protein References for EPO Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ EPO Antibody
- NSJ Bioreagents EPO Antibody
- BioLegend EPO Antibody (660302), EPO Antibody (662202), and EPO Antibody (502704)
- Novus Biologicals Antibodies for EPO
- Invitrogen Antibodies for EPO (AFLGC-EPO)
- antibodies-online: Show 233 available EPO Antibodies ranked by validation data
- Compare Top EPO Antibodies
-
Recommended
- 252 WB Antibodies (anti-human)
- 27 IHC Antibodies (anti-human)
- 24 IHC (p) Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 9 FACS Antibodies (anti-human)
- 3 EIA Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 33 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 50 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 Neut Antibody (anti-mouse)
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPO
- Sino Biological Antibodies for EPO
Protein products for research
- G Biosciences Human Erythropoietin/EPO, Lyophilized
- Search Origene for MassSpec and Protein Over-expression Lysates for EPO
- Origene Custom Protein Services for EPO
- Sino Biological Recombinant Proteins for EPO
- Sino Biological Cell Lysates for EPO
- ProSpec Recombinant Proteins for EPO
- antibodies-online: Show 82 available EPO Proteins ranked by validation data
- Compare Top EPO Proteins
-
ProSci Proteins for EPO
-
Abcam proteins for EPO
Assay products for research
- RayBiotech Human EPO ELISA
- Novus Biologicals ELISA Kits for EPO
- antibodies-online: Show 146 available EPO Elisa Kits ranked by validation data
- Compare Top EPO Elisa Kits
-
Quality Products:
- ABIN414366
- ABIN1114811
- ABIN365096
- ABIN1028611
- ABIN1979514
- ABIN5522728
- ABIN5026954
- ABIN5668997
- ABIN491740
- ABIN5593375
- ABIN1114810
- ABIN2684142
- ABIN415364
- ABIN366328
- ABIN921054
- ABIN5676226
- ABIN491741
- ABIN4885513
- ABIN5522730
- ABIN2708505
- ABIN1114812
- ABIN366461
- ABIN1081393
- ABIN2859223
- ABIN5563503
- ABIN1569611
- ABIN5522733
- ABIN2684143
- ABIN579296
- ABIN5670686
- ABIN414175
- ABIN364712
- ABIN1028610
- ABIN5593374
- ABIN991561
- ABIN6385351
- ABIN5690772
- ABIN5653967
- ABIN2533107
- ABIN4968930
-
Abcam assays for EPO
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:
-
- Erythropoietin signature
- ProtoNet:
Suggested Antigen Peptide Sequences for EPO Gene
- GenScript: Design optimal peptide antigens:
-
- EPO protein (B7ZKK5_HUMAN)
- Erythropoietin (EPO_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P01588- Family:
-
- Belongs to the EPO/TPO family.
Function for EPO Gene
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:
- Blood
- Heart
-
and also in
Phenotypes From GWAS Catalog 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 | IBA | 21873635 |
Phenotypes for EPO Gene
- MGI mutant phenotypes for EPO:
-
inferred from 5 alleles
- normal phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- cellular phenotype
- cardiovascular system phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- liver/biliary system phenotype
- hematopoietic system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for EPO:
Animal Models for EPO Gene
- MGI Knock Outs for EPO:
-
- Epo Epo<tm1Jae>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EPO - Starting at $85 >
- * EPO CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EPO
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPO
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPO
miRNA for EPO Gene
- miRTarBase miRNAs that target EPO
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPO
- Browse OriGene Inhibitory RNA Products For EPO
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPO
Clone products for research
- Applied Biological Materials (abm): Clones for EPO - Starting at $45 >
- * EPO as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EPO
- Addgene plasmids for EPO
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPO
Cell Lines for research
-
Horizon Cell Lines for EPO
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EPO Gene
Localization for EPO Gene
Subcellular locations from UniProtKB/Swiss-Prot for EPO Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 4 |
| plasma membrane | 3 |
| mitochondrion | 3 |
| nucleus | 3 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPO Gene
Pathways & Interactions for EPO Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 2 | Development EPO-induced Jak-STAT pathway |
Development EPO-induced Jak-STAT pathway
.42
|
|
| 3 | JAK-STAT signaling pathway | ||
| 4 | PEDF Induced Signaling | ||
| 5 | Hematopoietic cell lineage | ||
Pathways by source for EPO Gene
9 BioSystems pathways for EPO Gene
4 Reactome pathways for EPO Gene
6 KEGG pathways for EPO Gene
3 GeneGo (Thomson Reuters) pathways for EPO Gene
- Development EPO-induced Jak-STAT pathway
- Development EPO-induced MAPK pathway
- G-protein signaling_K-RAS regulation pathway
2 R&D Systems pathways for EPO Gene
3 Qiagen pathways for EPO Gene
- Erythropoietin Pathway
- HIF1Alpha Pathway
- JAK-STAT Pathway
Interacting Proteins for EPO Gene
Selected Interacting proteins:
P01588-EPO_HUMAN
ENSP00000252723
for EPO Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for EPO
| 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 | -- |
Drugs & Compounds for EPO Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Iron | Approved | Pharma | 1639 | |||
| Benzocaine | Approved, Investigational | Pharma | 3379 | |||
| Darbepoetin alfa | Approved, Investigational | Pharma | 213 | |||
| Lenograstim | Approved, Investigational | Pharma | 1373 | |||
| Panobinostat | Approved, Investigational | Pharma | Histone deacetylase (HDAC)inhibitors | 145 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for EPO Gene
mRNA/cDNA for EPO Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000252723 1662 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EPO - Starting at $85 >
- * EPO CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EPO
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPO
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPO
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPO
- Browse OriGene Inhibitory RNA Products For EPO
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPO
Clone products for research
- Applied Biological Materials (abm): Clones for EPO - Starting at $45 >
- * EPO as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EPO
- Addgene plasmids for EPO
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPO
Relevant External Links for EPO Gene
- GeneLoc Exon Structure for
- EPO
Expression 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).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPO
SOURCE GeneReport for Unigene cluster for EPO Gene:
Hs.2303mRNA 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(4.5)
- Blood(3.2)
- Bone marrow(3.1)
- Kidney(3)
- Liver(2.8)
- Heart(2.8)
- Muscle(2.6)
- Intestine(2.4)
- Skin(2.4)
- Spleen(2.4)
- Bone(2.2)
- Eye(2.2)
- Adrenal gland(2.1)
- Pancreas(2)
Primer products for research
-
OriGene qPCR primer pairs for EPO
-
OriGene qPCR primer pairs and template standards for EPO
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EPO 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EPO 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EPO 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Epo 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Epo 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | EPO 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | epo 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | epo 30 31 |
|
OneToOne |
- Species where no ortholog for EPO was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPO Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11976235 | Benign: not provided. Erythrocytosis, familial, 5 (ECYT5) [MIM:617907] | 100,722,758(+) |
C/Tp.Pro114Leu NM_000799.4(EPO):c.341C>T (p.Pro114Leu) |
MISSENSE | |
| rs1358275550 | Pathogenic: Diamond-Blackfan anemia-like. Diamond-Blackfan anemia-like (DBAL) [MIM:617911] | 100,723,081(+) |
G/Ap.Arg177Gln NM_000799.4(EPO):c.530G>A (p.Arg177Gln) |
MISSENSE | |
| rs137953994 | Likely Benign: not provided. Erythrocytosis, familial, 5 (ECYT5) [MIM:617907] | 100,722,667(+) |
G/Ap.Gly84Arg NM_000799.4(EPO):c.250G>A (p.Gly84Arg) |
MISSENSE | |
| rs140045752 | Benign: not provided | 100,721,652(+) |
C/T NM_000799.4(EPO):c.108C>T (p.Ser36=) |
SYNONYMOUS | |
| rs140683829 | Likely Benign: not provided | 100,722,678(+) |
C/T NM_000799.4(EPO):c.261C>T (p.Ala87=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPO Gene
Disorders for EPO Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diamond-blackfan anemia-like |
|
|
| erythrocytosis, familial, 5 |
|
|
| microvascular complications of diabetes 2 |
|
|
| autosomal dominant secondary polycythemia |
|
|
| uremia |
|
|
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 variants affecting the gene represented in this entry.
- Erythrocytosis, familial, 5 (ECYT5) [MIM:617907]: An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit. Some patients have increased serum erythropoietin levels. {ECO:0000269 PubMed:27651169, ECO:0000269 PubMed:29514032}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Diamond-Blackfan anemia-like (DBAL) [MIM:617911]: An autosomal recessive hematologic disease characterized by severe red cell hypoplastic anemia, selective absence of red cell precursors and progenitors seen on bone marrow biopsy, and increased serum erythropoietin. {ECO:0000269 PubMed:28283061}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for EPO
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for EPO Gene
Publications for EPO Gene
- 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 41 74
- A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. (PMID: 29514032) Zmajkovic J … Skoda RC (The New England journal of medicine 2018) 3 4 74
- Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. (PMID: 28283061) Kim AR … Sankaran VG (Cell 2017) 3 4 74
- Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PMID: 19862010) Ganesh SK … Lin JP (Nature genetics 2009) 3 23 41
- 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
ExternalLinks
Products for EPO Gene
- View all 19 R&D Systems EPO (Erythropoietin/EPO) Products
- View all 2 R&D Systems EPO (Erythropoietin/EPO) Proteins and Enzymes
- View all 11 R&D Systems EPO (Erythropoietin/EPO) Primary Antibodies
- View all 5 R&D Systems EPO (Erythropoietin/EPO) ELISAs
- View all R&D Systems EPO (Erythropoietin/EPO) Simple Plex Assays
- Learn more about R&D Systems custom EPO antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for EPO
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for EPO
- Origene Custom Protein Services for EPO
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPO
- Browse OriGene Inhibitory RNA Products For EPO
- OriGene qPCR primer pairs for EPO
- OriGene qPCR primer pairs and template standards for EPO
- OriGene CRISPR knockouts for EPO
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EPO
- Sino Biological Human cDNA Clone for EPO
- Sino Biological Recombinant Proteins for EPO
- Sino Biological Cell Lysates for EPO
- Sino Biological Antibodies for EPO
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EPO
- Novus Biologicals proteins and lysates for EPO
- Novus Biologicals ELISA Kits for EPO
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for EPO
- Abcam assays for EPO
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for EPO (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for EPO (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for EPO (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for EPO CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for EPO
- Addgene plasmids for EPO
- antibodies-online: Show 233 available EPO Antibodies ranked by validation data
- Compare Top EPO Antibodies
- Recommended
- 252 WB Antibodies (anti-human)
- 27 IHC Antibodies (anti-human)
- 24 IHC (p) Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 9 FACS Antibodies (anti-human)
- 3 EIA Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 33 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 50 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 Neut Antibody (anti-mouse)
- antibodies-online: Show 146 available EPO Elisa Kits ranked by validation data
- Compare Top EPO Elisa Kits
- Quality Products:
- ABIN414366
- ABIN1114811
- ABIN365096
- ABIN1028611
- ABIN1979514
- ABIN5522728
- ABIN5026954
- ABIN5668997
- ABIN491740
- ABIN5593375
- ABIN1114810
- ABIN2684142
- ABIN415364
- ABIN366328
- ABIN921054
- ABIN5676226
- ABIN491741
- ABIN4885513
- ABIN5522730
- ABIN2708505
- ABIN1114812
- ABIN366461
- ABIN1081393
- ABIN2859223
- ABIN5563503
- ABIN1569611
- ABIN5522733
- ABIN2684143
- ABIN579296
- ABIN5670686
- ABIN414175
- ABIN364712
- ABIN1028610
- ABIN5593374
- ABIN991561
- ABIN6385351
- ABIN5690772
- ABIN5653967
- ABIN2533107
- ABIN4968930
- antibodies-online: Show 82 available EPO Proteins ranked by validation data
- Compare Top EPO Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for EPO
- Search Santa Cruz Biotechnology (SCBT) for EPO siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EPO
- Custom Antibody ServicesProSci Antibodies for EPO
- ProSci Proteins for EPO
- Horizon Cell Lines for EPO
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPO
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPO
- Search GeneCopoeia for miRNA 3'UTR Target clone products for EPO
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPO
Sources for EPO Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB