EPO Gene - Erythropoietin
Comprehensive gene card for EPO, encoding erythropoietin, a key regulator of erythropoiesis.
Gene Information Card
| Symbol | EPO |
|---|---|
| Full Name | Erythropoietin |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 2056 ncbi.nlm.nih.gov/gene/2056 |
| Ensembl ID | ENSG00000130427 |
| UniProt ID | P01588 |
| OMIM ID | 133170 |
| HGNC ID | 3415 |
| Aliases | EP, MVCD2, DBAL |
Description
The EPO gene encodes erythropoietin, a glycoprotein hormone that primarily regulates red blood cell production (erythropoiesis). It is produced mainly by the kidneys in response to hypoxia and acts by binding to the erythropoietin receptor (EPOR) on erythroid progenitor cells, promoting their survival, proliferation, and differentiation. EPO is also expressed in the liver and brain, where it may have additional cytoprotective roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Erythrocytosis, familial, 2 | Gain-of-function mutations in EPO or EPOR lead to increased erythropoiesis and elevated hemoglobin levels. | OMIM #133170; ClinVar |
| Anemia, chronic kidney disease | Reduced EPO production due to kidney damage impairs erythropoiesis, causing anemia. | NCBI Gene; OMIM #133170 |
| Myelodysplastic syndrome with ring sideroblasts | Somatic mutations in EPO signaling pathway may contribute to ineffective erythropoiesis. | COSMIC; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 0.0 | Not detected (nTPM <1) |
| Liver | 0.0 | Not detected (nTPM <1) |
| Bone Marrow | 0.0 | Not detected (nTPM <1) |
| Brain | 0.0 | Not detected (nTPM <1) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.0 | Not detected |
| HEK 293 | 0.0 | Not detected |
| K-562 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.577C>T (p.Arg193Ter) | Nonsense | Rare | Loss of function; associated with anemia |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; disrupts translation initiation |
| c.194C>T (p.Pro65Leu) | Missense | Rare | Gain of function; associated with erythrocytosis |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish EPO production or activity, leading to anemia.
Gain of Function (GOF)
Missense mutations that increase EPO activity or stability, causing erythrocytosis.
Dominant Negative (DN)
No dominant negative mutations reported for EPO.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Erythropoietin signaling pathway (Reactome: R-HSA-9006335)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• JAK-STAT signaling pathway (KEGG: hsa04630)
• HIF-1 signaling pathway (KEGG: hsa04066)
Protein Summary
Erythropoietin (EPO) is a 193-amino acid glycoprotein hormone (UniProt P01588) with a molecular weight of approximately 34 kDa after glycosylation. It is composed of four alpha-helices and contains two disulfide bonds. EPO binds to the erythropoietin receptor (EPOR) on erythroid progenitor cells, activating JAK2/STAT5, PI3K/AKT, and MAPK signaling pathways to promote cell survival, proliferation, and differentiation into mature red blood cells. Recombinant EPO is used clinically to treat anemia associated with chronic kidney disease and cancer chemotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPOR Knockout HEK293 Cell Line | EDJ-KQ461 | Human | 2057 | Details Get a Quote |
| EPO Knockout HEK293 Cell Line | EDJ-KQ1499 | Human | 2056 | Details Get a Quote |
| EPOP Knockout HEK293 Cell Line | EDJ-KQ13306 | Human | 100170841 | Details Get a Quote |
| EPOR Knockout A-549 Cell Line | EDJ-KQ18769 | Human | 2057 | Details Get a Quote |
| EPOR Knockout HCT 116 Cell Line | EDJ-KQ18770 | Human | 2057 | Details Get a Quote |
| EPOR Knockout HeLa Cell Line | EDJ-KQ18771 | Human | 2057 | Details Get a Quote |
| EPOP Knockout A-549 Cell Line | EDJ-KQ42759 | Human | 100170841 | Details Get a Quote |
| EPOP Knockout HCT 116 Cell Line | EDJ-KQ42760 | Human | 100170841 | Details Get a Quote |
| EPOP Knockout HeLa Cell Line | EDJ-KQ42761 | Human | 100170841 | Details Get a Quote |
| EPO Knockout HTR-8/SVneo Cell Line | EDJ-KZ217 | Human | 2056 | Details Get a Quote |
| EPO Knockout HeLa Cell Line | EDJ-KQ53169 | Human | 2056 | Details Get a Quote |
| EPO Knockout A-549 Cell Line | EDJ-KQ61648 | Human | 2056 | Details Get a Quote |
| EPO Knockout HCT 116 Cell Line | EDJ-KQ70128 | Human | 2056 | Details Get a Quote |
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