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This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
EPOR (Erythropoietin Receptor) is a Protein Coding gene. Diseases associated with EPOR include Erythrocytosis, Familial, 1 and Polycythemia. Among its related pathways are Activation of cAMP-Dependent PKA and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include identical protein binding and erythropoietin receptor activity. An important paralog of this gene is MPL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0004896 | cytokine receptor activity | IEA | -- |
GO:0004900 | erythropoietin receptor activity | TAS,IDA | 2163696 |
GO:0005515 | protein binding | IPI | 7228577 |
GO:0042802 | identical protein binding | IPI | 16116438 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 1848667 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
|
2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
3 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
4 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
|
5 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | NAS | 1668606 |
GO:0007420 | brain development | IEA | -- |
GO:0007507 | heart development | IEA | -- |
GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | TAS | -- |
GO:0019221 | cytokine-mediated signaling pathway | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
erythropoietin | Approved | Pharma | Agonist, Target, agonist | 0 | ||
Darbepoetin alfa | Approved, Investigational | Pharma | Target, agonist | 213 | ||
Methoxy polyethylene glycol-epoetin beta | Approved | Pharma | Target, stimulator | 0 | ||
Peginesatide | Approved, Investigational | Pharma | Target, stimulator | 0 | ||
Dibromotyrosine | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: |
ExUns: | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | · | 29c | · | 29d | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | · | 32c | · | 32d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||||||||||||||||||
SP15: | |||||||||||||||||||||||||||||||||||||||||||
SP16: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EPOR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EPOR 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EPOR 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Epor 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Epor 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | EPOR 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EPOR 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EPOR 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | epor 30 31 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713659 | Benign/Likely Benign: Primary familial polycythemia due to EPO receptor mutation; not provided | 11,382,061(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
722326 | Likely Benign: not provided | 11,381,098(-) | A/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
728998 | Likely Benign: not provided | 11,383,099(-) | G/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
734865 | Benign: not provided | 11,380,910(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
741068 | Likely Benign: not provided | 11,383,115(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
erythrocytosis, familial, 1 |
|
|
polycythemia |
|
|
primary polycythemia |
|
|
acquired polycythemia |
|
|
polycythemia vera |
|