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FLASH GENE
Symbol EPOR contributors: mct - updated : 24-10-2011
HGNC name erythropoietin receptor
HGNC id 3416
Corresponding disease
ECYT1 erythrocytosis, familial, 1
Location 19p13.2      Physical location : 11.487.880 - 11.495.018
Synonym symbol(s) EPO-R, MGC138358
DNA
TYPE functioning gene
STRUCTURE 7.14 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map pter - D19S177 - D19S24 - LDLR LDLR - EPOR - cen - D19S7 - D19S49 - APOC2 APOC2 - qter
Authors Sistonen (93)
Physical map
IL1RL1LG 19p13.2 interleukin 1 receptor-like 1 ligand LOC255809 19p13.2 hypothetical LOC255809 CARM1 19p13.2 hypothetical LOC255809 MGC3262 19p13.2 hypothetical protein MGC3262 LOC90580 19p13.2 hypothetical protein BC011833 SMARCA4 19p13.2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 LDLR 19p13.2 low density lipoprotein receptor (familial hypercholesterolemia) FLJ90806 KIAA1518 LOC55908 19p13.2 hepatocellular carcinoma-associated gene TD26 TM4-B 19p13.2 tetraspanin TM4-B RAB3D 19p13.2 RAB3D, member RAS oncogene family LPPR2 19p13.2 lipid phosphate phosphatase-related protein type 2 UNQ501 19p13.2 MBC3205 LOC126075 19p13.2 hypothetical protein LOC126075 FLJ35119 19p13.2 hypothetical protein FLJ35119 EPOR 19p13.2 erythropoietin receptor RGL3 19p13.1-p13.2 erythropoietin receptor MGC20983 19p13.2 hypothetical protein MGC20983 PRKCSH 19p13.2 protein kinase C substrate 80K-H DKFZp547J036 19p13.2 hypothetical protein DKFZp547J036 ELAVL3 19p13.2 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) LOC115950 19p13.2 hypothetical protein BC016816 SITPEC 19p13.2 likely ortholog of mouse signaling intermediate in Toll pathway-evolutionarily conserved CNN1 19p13.2 calponin 1, basic, smooth muscle MGC4549 19p13.2 hypothetical protein MGC4549 ACP5 19p13.3-p13.2 acid phosphatase 5, tartrate resistant LOC390889 19 similar to Glyceraldehyde 3-phosphate dehydrogenase (GAPDH) (38 kDa BFA-dependent ADP-ribosylation substrate) (BARS-38) LOC199692 19p13.2 similar to Zinc finger protein 136 LOC342970 19p13.2 similar to Zinc finger protein 20 (Zinc finger protein KOX13) (DKFZp572P0920) LOC284387 19p13.2 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC390890 19 hypothetical gene supported by AK126753 ZNF441 19p13.13 zinc finger protein 441 ZNF491 19p13.2 zinc finger protein 491 ZNF440 19p13.13 zinc finger protein 440 ZNF439 19p13.13 zinc finger protein 439
regionally located tightly linked to a full size LTR of human endogenous retroviruses HERV-K
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - - 27 - - 2010 20169072
  • soluble form of EPOR
  • higher serum sEPOR levels correlate with increased erythropoietin requirements
  • sEPOR levels may contribute to erythropoietin resistance in end stage renal disease, and its production may be mediated by pro-inflammatory cytokines
    • 8 - 2459 - 508 - 2011 21291419
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinner    Homo sapiens
    Nervousbrain     Homo sapiens
    Reproductivefemale systemuterus   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningendometrium  
    Muscularstriatumcardiac   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythroid Homo sapiens
    Cardiovascularendothelial cell Homo sapiens
    Muscularmyocyte Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines erythroleukemia cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • cytokine receptor like domains containing cysteine residues
  • a conserved WSXWS motif
  • a cytoplasmic C terminal
  • four tyrosine phosphorylation sites involved in the EPO induced calcium influx negative regulatory domain
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    intracellular,cytoplasm,cytosolic
    text
  • TFR2 and EPOR are synchronously coexpressed during the differentiation of erythroid progenitors
    • basic FUNCTION
  • may be playing a role in the mechanism of erythropoietin-induced erythroblast proliferation and differentiation
  • EPOR signaling regulates both erythropoiesis and megakaryopoiesis
  • crucial role for EPOR in glioma stem cells maintenance
  • on glioma stem cells promotes tumor growth and may explain the poor survival of cancer patients treated with EPO
  • its activation by nitric oxide mediates hypoxia preconditioning
  • drives survival, proliferation and differentiation of erythroid progenitor cells via binding of its ligand EPO
  • EPOR cytosolic lysine residues enhance receptor function, most probably through ubiquitination and/or other post-translational modifications
  • vascular EPO/EPOR system plays an important protective role against hypoxia/ischemia
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • JAK2 and STAT5, STAT3, STAT1 binding (for activation)
  • TFR2 is a component of the EPOR complex
  • GATA4 is novel regulator of EPOR transcription in cardiomyocytes
  • EPO binds to EPOR, initiating signaling that stimulates growth, inhibits apoptosis, and induces the differentiation of erythroid progenitors to increase red blood cell mass
    • cell & other
    REGULATION
    activated by hypoxia
    inhibited by inhibited by SOCS3 binding
    ASSOCIATED DISORDERS
    corresponding disease(s) ECYT1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    activated cell proliferation pathways in melanoma cells and resulted in increased cell proliferation and resistance to hypoxia and cisplatin treatment
    Susceptibility
    Variant & Polymorphism
    Candidate gene unlikely involved in Diamond-Blackfan anemia
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquired 
    EPO/EPOR is a novel therapeutic target in cardiovascular disease
    ANIMAL & CELL MODELS