EPOR - erythropoietin receptor Gene
Also Known as EPO-R
Species: Homo sapiens
About EPOR
This gene has 8 transcripts (splice variants), 188 orthologues, 7 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 14.6), thyroid (RPKM 11.4) and 22 other tissues.
Summary
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 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000121.4 | NP_000112.1 | erythropoietin receptor precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables erythropoietin receptor activity |
IDA
IDA: Inferred from direct assay
|
2163696 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
16116438 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
7228577 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in erythropoietin-mediated signaling pathway |
IDA
IDA: Inferred from direct assay
|
2163696 | GOA |
EPOR Protein Structure
EpoR_lig-bind: Erythropoietin receptor, ligand binding (37 - 140)
fn3: Fibronectin type III domain (156 - 225)
- 0
- 100
- 200
- 300
- 400
- 508 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
erythropoietin receptor |
|
EPOR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
EPOR | P19235 | EPO | Homo sapiens | P01588 | 9774108 | |
|
Intra
|
EPOR | P19235 | EPOR | Homo sapiens | P19235 | 21058338 | |
|
Intra
|
EPOR | P19235 | PTPN6 | Homo sapiens | P29350 | 7228577 | |
|
Intra
|
EPOR | P19235 | PTPN1 | Homo sapiens | P18031 | 14527337 | |
|
Intra
|
EPOR | P19235 | PTPN6 | Homo sapiens | P29350 | 7528537 | |
|
Intra
|
EPOR | P19235 | PTPN1 | Homo sapiens | P18031 | 14527337 | |
|
Intra
|
EPOR | P19235 | EPOR | Homo sapiens | P19235 | 16116438 | |
|
Intra
|
EPOR | P19235 | PTPN6 | Homo sapiens | P29350 | 7528577 | |
|
Intra
|
EPOR | P19235 | PTPN6 | Homo sapiens | P29350 | 7228577 | |
|
Intra
|
EPOR | P19235 | PLCG2 | Homo sapiens | P16885 | 15644415 | |
|
Cross
|
EPOR | P19235 | Cish | Mus musculus | Q62225 | 11781573 | |
|
Intra
|
EPOR | P19235 | SOCS2 | Homo sapiens | O14508 | 11781573 | |
|
Intra
|
EPOR | P19235 | ATXN2L | Homo sapiens | Q8WWM7 | 11784712 |
Recombinant EPOR Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70314 | Erythropoietin receptor/EpoR Protein, Human (HEK293, His) | P19235-1 (A25-P250) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P73521 | Erythropoietin receptor/EpoR Protein, Human (HEK293 , Fc) | P19235-1/NP_000112.1 (A25-P250) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P73032 | EPOR-CD131 Heterodimer Protein, Human (HEK293, Fc) | P19235 (A25-P250)&P32927 (W17-W443) | ≥ 95%, as determined by reducing SDS-PAGE. |
EPOR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P811331 | EPO Receptor Antibody | WB, ICC/IF | Human, Mouse, Rat |
| HY-P89938 | EpoR Antibody (YA9282) | ICC/IF, IF-Tissue, IP, ELISA | human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Erythrocytosis, Familial, 1 |
|
|
| Erythroleukemia |
|
|
| Primary Polycythemia |
|
|
| Polycythemia |
|
|
| Acquired Polycythemia |
|
|
| Hemangioblastoma |
|
|
| Acute Megakaryoblastic Leukemia Without Down Syndrome |
|
|
| Polycythemia Vera |
|
|
| Progressive Myoclonus Epilepsy 9 |
|
|
| Anemia Of Prematurity |
|
|
| Deficiency Anemia |
|
|
| Myeloproliferative Neoplasm |
|
|
| Essential Thrombocythemia |
|
|
| Acute Erythroid Leukemia |
|
|
| Erythrocytosis, Familial, 3 |
|
|
| Neonatal Anemia |
|
|
| Erythrocytosis, Familial, 2 |
|
|
| Erythrocytosis, Familial, 6 |
|
|
| Pure Red-Cell Aplasia |
|
|
| Acoustic Neuroma |
|
|
| Beta-Thalassemia |
|
|
| Lumbosacral Lipoma |
|
|
| Diamond-Blackfan Anemia |
|
|
| Myelodysplastic Syndrome |
|
|
| Breast Cancer |
|
|
| Erythrocytosis, Familial, 8 |
|
|
| Ocular Hypertension |
|
|
| Myelofibrosis |
|
|
| Erythrocytosis, Familial, 4 |
|
|
| Acute Megakaryocytic Leukemia |
|
|
| Erythrocytosis, Familial, 5 |
|
|
| Hemochromatosis, Type 3 |
|
|
| Pheochromocytoma |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1 |
|
|
| Hemochromatosis, Type 1 |
|
|
| Malaria |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Chronic Kidney Disease |
|
|
| Thrombocytopenia |
|
|
| Hemoglobinopathy |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Exudative Vitreoretinopathy 1 |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Stroke, Ischemic |
|
|
| Leukemia, Acute Myeloid |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | EPOR | VGNC | VGNC:40424 |
| Macaca mulatta | EPOR | VGNC | VGNC:109622 |
| Rattus norvegicus | EPOR | RGD | RGD:2560 |
| Felis catus | EPOR | VGNC | VGNC:61916 |
| Mus musculus | EPOR | MGD | MGI:95408 |
| Bos taurus | EPOR | VGNC | VGNC:28551 |
| Others | EPOR | NCBI |