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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 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]
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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | CDK-mediated phosphorylation and removal of Cdc6 | ||
2 | Development EPO-induced Jak-STAT pathway |
Development EPO-induced Jak-STAT pathway
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3 | JAK-STAT signaling pathway | ||
4 | PEDF Induced Signaling | ||
5 | Hematopoietic cell lineage |
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 | -- |
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 |
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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 |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
diamond-blackfan anemia-like |
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erythrocytosis, familial, 5 |
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microvascular complications of diabetes 2 |
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autosomal dominant secondary polycythemia |
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uremia |
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