• Gene id: 2056

Gene Summary

• Gene Symbol: EPO   Gene   UCSC   Ensembl
• Aliases: DBAL, ECYT5, EP, MVCD2
• Gene name: erythropoietin
• Alternate names: erythropoietin, epoetin,
• Gene location: 7q22.1 (100720467: 100723699)     Exons: 5     NC_000007.14
• Gene summary(Entrez): 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 product
• OMIM: 164731

Protein Summary

• Protein general information: P01588  
  • Name: Erythropoietin (Epoetin)
  • Length: 193  
  • Mass: 21307
  • Tissue specificity: Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals.
• Sequence:

  MGVHECPAWLWLLLSLLSLPLGLPVLGAPPRLICDSRVLERYLLEAKEAENITTGCAEHCSLNENITVPDTKVNF
  YAWKRMEVGQQAVEVWQGLALLSEAVLRGQALLVNSSQPWEPLQLHVDKAVSGLRSLTTLLRALGAQKEAISPPD
  AASAAPLRTITADTFRKLFRVYSNFLRGKLKLYTGEACRTGDR

• Structural information:
  • Interpro: IPR009079  IPR019767  IPR001323  IPR003013  
  • Prosite: PS00817
  • PDB: 1BUY 1CN4 1EER
  • PDBsum: 1BUY 1CN4 1EER
  • DIP: 5731
  • STRING: ENSP00000252723
• Other Databases: GeneCards:  EPO  Malacards:  EPO

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005125	cytokine activity	IBA	molecular function
GO:0005128	erythropoietin receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0008284	positive regulation of cell population proliferation	IBA	biological process
GO:0030295	protein kinase activator activity	IBA	molecular function
GO:0038162	erythropoietin-mediated signaling pathway	IBA	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IBA	biological process
GO:0038162	erythropoietin-mediated signaling pathway	IMP	biological process
GO:0030218	erythrocyte differentiation	IMP	biological process
GO:0005128	erythropoietin receptor binding	IMP	molecular function
GO:0005128	erythropoietin receptor binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0043249	erythrocyte maturation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0008015	blood circulation	NAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0046579	positive regulation of Ras protein signal transduction	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:0071548	response to dexamethasone	IEA	biological process
GO:0070555	response to interleukin-1	IEA	biological process
GO:0048678	response to axon injury	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0044297	cell body	IEA	cellular component
GO:0043627	response to estrogen	IEA	biological process
GO:0009651	response to salt stress	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042541	hemoglobin biosynthetic process	IEA	biological process
GO:0033033	negative regulation of myeloid cell apoptotic process	IEA	biological process
GO:0030295	protein kinase activator activity	IEA	molecular function
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0018105	peptidyl-serine phosphorylation	IEA	biological process
GO:0007566	embryo implantation	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0055093	response to hyperoxia	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0042104	positive regulation of activated T cell proliferation	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0006953	acute-phase response	IEA	biological process
GO:0045860	positive regulation of protein kinase activity	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0030218	erythrocyte differentiation	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005125	cytokine activity	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0010523	negative regulation of calcium ion transport into cytosol	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0071474	cellular hyperosmotic response	IDA	biological process
GO:2001258	negative regulation of cation channel activity	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IDA	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IDA	biological process
GO:1902219	negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress	IDA	biological process
GO:1902251	negative regulation of erythrocyte apoptotic process	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0032147	activation of protein kinase activity	IEA	biological process
GO:0032147	activation of protein kinase activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa04060	Cytokine-cytokine receptor interaction
hsa04630	JAK-STAT signaling pathway
hsa04066	HIF-1 signaling pathway
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Allergic rhinitis	KEGG:H01360
Diabetic retinopathy	KEGG:H01457
Allergic rhinitis	KEGG:H01360
Diabetic retinopathy	KEGG:H01457
Limb ischemia	PMID:23294128
Alzheimer's disease	PMID:23813967
Alzheimer's disease	PMID:22004348
Nephrotic syndrome	PMID:23128049
neurodegenerative disease	PMID:16339796
porphyria	PMID:17435269
Parkinson's disease	PMID:19727138
Breast cancer	PMID:12118093
Glaucoma	PMID:19741249
Transient cerebral ischemia	PMID:24702327
Anemia	PMID:15855576
Malignant glioma	PMID:21749867
Amyotrophic lateral sclerosis	PMID:17368721
Cerebral infarction	PMID:20833153
Placental insufficiency	PMID:20809703
macular retinal edema	PMID:20664492
Myocardial infarction	PMID:21415704
congestive heart failure	PMID:20139114
Pulmonary hypertension	PMID:22559233
Diabetic retinopathy	PMID:18670462
Diabetic retinopathy	PMID:18235022
type 2 diabetes mellitus	PMID:16911620
type 2 diabetes mellitus	PMID:16936148
Diabetic neuropathy	PMID:19244253
hypoglycemia	PMID:19211168
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq