Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2056
Gene name Gene Name - the full gene name approved by the HGNC.
Erythropoietin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPO
Synonyms (NCBI Gene) Gene synonyms aliases
DBAL, ECYT5, EP, MVCD2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
Summary Summary of gene provided in NCBI Entrez 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 product
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
ARNT Activation 8663540
EP300 Activation 20368990
GATA1 Activation 16471262
GATA1 Repression 8677751
GATA2 Repression 8677751
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
133170 3415 ENSG00000130427
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Anemia diamond-blackfan anemia-like rs1358275550 N/A
Erythrocytosis erythrocytosis, familial, 5 rs1554393458, rs1554393463 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Polycythemia autosomal dominant secondary polycythemia N/A N/A GenCC
Associations from Text Mining Disease 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)