Gene Gene information from NCBI Gene database.
Entrez ID 2056
Gene name Erythropoietin
Gene symbol EPO
Synonyms (NCBI Gene)
DBALECYT5EPMVCD2
Chromosome 7
Chromosome location 7q22.1
Summary 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
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs1617640 C>A,G,T Risk-factor Upstream transcript variant
rs1358275550 G>A Pathogenic Coding sequence variant, missense variant
rs1554393458 C>- Pathogenic Coding sequence variant, frameshift variant
rs1554393463 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
62
miRTarBase ID miRNA Experiments Reference
MIRT022112 hsa-miR-125b-5p Other 20194440
MIRT022112 hsa-miR-125b-5p Luciferase reporter assay 24165569
MIRT022112 hsa-miR-125b-5p Luciferase reporter assay 24165569
MIRT022112 hsa-miR-125b-5p Luciferase reporter assay 24165569
MIRT022112 hsa-miR-125b-5p Luciferase reporter assay 24165569
Transcription factors Transcription factors information provided by TRRUST V2 database.
13
Transcription factor Regulation Reference
ARNT Activation 8663540
EP300 Activation 20368990
GATA1 Activation 16471262
GATA1 Repression 8677751
GATA2 Repression 8677751
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 16497104
GO:0001666 Process Response to hypoxia IEA
GO:0001666 Process Response to hypoxia IEA
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IDA 9774108, 28283061
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
133170 3415 ENSG00000130427
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01588
Protein name Erythropoietin (Epoetin)
Protein function Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass (PubMed:28283061). Binds to EPOR leading to EPOR dimerization and JAK2 activation th
PDB 1BUY , 1CN4 , 1EER
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00758 EPO_TPO 31 192 Erythropoietin/thrombopoietin Domain
Tissue specificity TISSUE SPECIFICITY: Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals. {ECO:0000269|PubMed:3865178}.
Sequence
Sequence length 193
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
HIF-1 signaling pathway
Hormone signaling
Efferocytosis
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer
  Regulation of gene expression by Hypoxia-inducible Factor
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
Erythropoietin activates RAS
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Diamond-Blackfan anemia-like Pathogenic rs1358275550 RCV000590853
Erythrocytosis, familial, 5 Pathogenic rs1554393463, rs1554393458 RCV000590858
RCV000590862
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs137953994 RCV005906027
EPO-related disorder Uncertain significance; Likely benign; Benign rs778175956, rs747612452, rs755088347, rs776259969, rs759518255, rs2486364274, rs542975821, rs73409072, rs62483572, rs57694744, rs73409075, rs369468201 RCV004756484
RCV003402707
RCV003901849
RCV003913844
RCV003936849
RCV003979280
RCV003976738
RCV004756074
RCV003940594
RCV004756075
RCV004756076
RCV003950822
Malignant tumor of esophagus Conflicting classifications of pathogenicity rs137953994 RCV005906026
Microvascular complications of diabetes, susceptibility to, 2 risk factor rs1617640 RCV000018073
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 9292543
Abortion Spontaneous Inhibit 22135724
Acute Lung Injury Associate 19164355
AIDS Dementia Complex Inhibit 1709368
alpha Thalassemia Inhibit 35802781
Altitude Sickness Associate 26625252, 31617751
Alzheimer Disease Associate 22388478
Amyotrophic Lateral Sclerosis Associate 25595151
Anemia Associate 11090055, 11675943, 15496172, 16304357, 16407130, 20019408, 20473273, 21406725, 25227310, 26922982, 28283061, 29768025, 306845, 31630548, 32027948
View all (5 more)
Anemia Inhibit 11844847, 12846752, 14626572, 15247979, 15798000, 15967106, 16648896, 16888788, 1824252, 18383321, 18596367, 19536148, 19646258, 21098876, 21449784
View all (21 more)