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Aliases for EPOR Gene

Aliases for EPOR Gene

  • Erythropoietin Receptor 2 3 5
  • EPO-R 3 4

External Ids for EPOR Gene

Previous GeneCards Identifiers for EPOR Gene

  • GC19M011619
  • GC19M011710
  • GC19M011333
  • GC19M011348
  • GC19M011350
  • GC19M011489
  • GC19M011063

Summaries for EPOR Gene

Entrez Gene Summary for EPOR Gene

  • 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]

GeneCards Summary for EPOR Gene

EPOR (Erythropoietin Receptor) is a Protein Coding gene. Diseases associated with EPOR include Primary Polycythemia and Erythrocytosis, Somatic. Among its related pathways are Development EPO-induced Jak-STAT pathway and Alzheimers Disease Pathway. GO annotations related to this gene include identical protein binding and erythropoietin receptor activity. An important paralog of this gene is MPL.

UniProtKB/Swiss-Prot for EPOR Gene

  • Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase.

  • Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling.

Gene Wiki entry for EPOR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPOR Gene

Genomics for EPOR Gene

Regulatory Elements for EPOR Gene

Enhancers for EPOR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EPOR on UCSC Golden Path with GeneCards custom track

Promoters for EPOR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPOR on UCSC Golden Path with GeneCards custom track

Genomic Location for EPOR Gene

Chromosome:
19
Start:
11,377,205 bp from pter
End:
11,384,342 bp from pter
Size:
7,138 bases
Orientation:
Minus strand

Genomic View for EPOR Gene

Genes around EPOR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPOR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPOR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPOR Gene

Proteins for EPOR Gene

  • Protein details for EPOR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19235-EPOR_HUMAN
    Recommended name:
    Erythropoietin receptor
    Protein Accession:
    P19235
    Secondary Accessions:
    • B2RCG4
    • Q15443
    • Q2M205

    Protein attributes for EPOR Gene

    Size:
    508 amino acids
    Molecular mass:
    55065 Da
    Quaternary structure:
    • Forms homodimers on EPO stimulation. The tyrosine-phosphorylated form interacts with several SH2 domain-containing proteins including LYN (By similarity), the adapter protein APS, PTPN6 (By similarity), PTPN11, JAK2, PI3 kinases, STAT5A/B, SOCS3, CRKL (By similarity). Interacts with INPP5D/SHIP1 (By similarity). The N-terminal SH2 domain of PTPN6 binds Tyr-454 and inhibits signaling through dephosphorylation of JAK2 (By similarity). APS binding also inhibits the JAK-STAT signaling. Binding to PTPN11, preferentially through the N-terminal SH2 domain, promotes mitogenesis and phosphorylation of PTPN11 (By similarity). Binding of JAK2 (through its N-terminal) promotes cell-surface expression (By similarity). Interaction with the ubiquitin ligase NOSIP mediates EPO-induced cell proliferation. Interacts with ATXN2L.

    Three dimensional structures from OCA and Proteopedia for EPOR Gene

    Alternative splice isoforms for EPOR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPOR Gene

Proteomics data for EPOR Gene at MOPED

Post-translational modifications for EPOR Gene

  • On EPO stimulation, phosphorylated on C-terminal tyrosine residues by JAK2. The phosphotyrosine motifs are also recruitment sites for several SH2-containing proteins and adapter proteins which mediate cell proliferation. Phosphorylation on Tyr-454 is required for PTPN6 interaction, Tyr-426 for PTPN11. Tyr-426 is also required for SOCS3 binding, but Tyr-454/Tyr-456 motif is the preferred binding site.
  • Ubiquitination at Lys-281 mediates receptor internalization, whereas ubiquitination at Lys-453 promotes trafficking of activated receptors to the lysosomes for degradation (By similarity). Ubiquitinated by NOSIP; appears to be either multi-monoubiquitinated or polyubiquitinated. Ubiquitination mediates proliferation and survival of EPO-dependent cells.
  • Ubiquitination at Lys 281 and Lys 453
  • Glycosylation at Asn 76
  • Modification sites at PhosphoSitePlus

Other Protein References for EPOR Gene

Antibody Products

  • R&D Systems Antibodies for EPOR (Erythropoietin R)

No data available for DME Specific Peptides for EPOR Gene

Domains & Families for EPOR Gene

Gene Families for EPOR Gene

Suggested Antigen Peptide Sequences for EPOR Gene

Graphical View of Domain Structure for InterPro Entry

P19235

UniProtKB/Swiss-Prot:

EPOR_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 1 subfamily.
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
  • Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
  • Contains 1 fibronectin type-III domain.
Family:
  • Belongs to the type I cytokine receptor family. Type 1 subfamily.
genes like me logo Genes that share domains with EPOR: view

Function for EPOR Gene

Molecular function for EPOR Gene

GENATLAS Biochemistry:
erythropoietin receptor,unlikely involved in Diamond-Blackfan anemia,tightly linked to a full size LTR of human endogenous retroviruses HERV-K,interacting with JAK2 and STAT5,expressed in kidney cells
UniProtKB/Swiss-Prot Function:
Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase.
UniProtKB/Swiss-Prot Function:
Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling.

Gene Ontology (GO) - Molecular Function for EPOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 7228577
genes like me logo Genes that share ontologies with EPOR: view
genes like me logo Genes that share phenotypes with EPOR: view

Human Phenotype Ontology for EPOR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPOR Gene

MGI Knock Outs for EPOR:

Animal Model Products

  • Taconic Biosciences Mouse Models for EPOR

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EPOR Gene

Localization for EPOR Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPOR Gene

Cell membrane; Single-pass type I membrane protein.
Isoform EPOR-S: Secreted. Note=Secreted and located to the cell surface.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPOR Gene COMPARTMENTS Subcellular localization image for EPOR gene
Compartment Confidence
plasma membrane 5
cytosol 4
extracellular 4
endoplasmic reticulum 2
nucleus 2
cytoskeleton 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for EPOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EPOR: view

Pathways & Interactions for EPOR Gene

genes like me logo Genes that share pathways with EPOR: view

SIGNOR curated interactions for EPOR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EPOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007204 positive regulation of cytosolic calcium ion concentration IEA --
GO:0007420 brain development IEA --
GO:0007507 heart development IEA --
GO:0010976 positive regulation of neuron projection development IEA --
GO:1903206 negative regulation of hydrogen peroxide-induced cell death IEA --
genes like me logo Genes that share ontologies with EPOR: view

Drugs & Compounds for EPOR Gene

(33) Drugs for EPOR Gene - From: DrugBank, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Darbepoetin alfa Approved, Investigational Pharma agonist, Target 162
Epoetin alfa Approved Pharma agonist, Target 632
Peginesatide Approved Pharma Target, stimulator 0
Epoetin Zeta Approved Pharma Target, agonist 0
3,5 DIBROMOTYROSINE Experimental Pharma Target 0

(26) Additional Compounds for EPOR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EPOR: view

Transcripts for EPOR Gene

Unigene Clusters for EPOR Gene

Erythropoietin receptor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EPOR Gene

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:

Relevant External Links for EPOR Gene

GeneLoc Exon Structure for
EPOR
ECgene alternative splicing isoforms for
EPOR

Expression for EPOR Gene

mRNA expression in normal human tissues for EPOR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPOR Gene

This gene is overexpressed in Thyroid (x7.7).

Protein differential expression in normal tissues from HIPED for EPOR Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EPOR Gene



SOURCE GeneReport for Unigene cluster for EPOR Gene Hs.631624

mRNA Expression by UniProt/SwissProt for EPOR Gene

P19235-EPOR_HUMAN
Tissue specificity: Erythroid cells and erythroid progenitor cells. Isoform EPOR-F is the most abundant form in EPO-dependent erythroleukemia cells and in late-stage erythroid progenitors. Isoform EPOR-S and isoform EPOR-T are the predominant forms in bone marrow. Isoform EPOR-T is the most abundant from in early-stage erythroid progenitor cells.
genes like me logo Genes that share expression patterns with EPOR: view

Protein tissue co-expression partners for EPOR Gene

Primer Products

Orthologs for EPOR Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPOR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EPOR 35
  • 84.78 (n)
  • 83.66 (a)
EPOR 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPOR 35
  • 85.27 (n)
  • 82.84 (a)
EPOR 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epor 35
  • 82.31 (n)
  • 81.85 (a)
Epor 16
Epor 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPOR 35
  • 95.01 (n)
  • 93.9 (a)
EPOR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epor 35
  • 81.33 (n)
  • 80.67 (a)
oppossum
(Monodelphis domestica)
Mammalia EPOR 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPOR 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPOR 36
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii epor 35
  • 45.82 (n)
  • 34.09 (a)
epor 36
  • 28 (a)
OneToMany
epor 36
  • 27 (a)
OneToMany
Species with no ortholog for EPOR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EPOR Gene

ENSEMBL:
Gene Tree for EPOR (if available)
TreeFam:
Gene Tree for EPOR (if available)

Paralogs for EPOR Gene

Paralogs for EPOR Gene

genes like me logo Genes that share paralogs with EPOR: view

Variants for EPOR Gene

Sequence variations from dbSNP and Humsavar for EPOR Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs62638745 Erythrocytosis, familial, 1 (ECYT1) 11,378,051(-) CTCCA(A/G)CCCTT nc-transcript-variant, reference, missense
rs142094773 Erythrocytosis, familial, 1 (ECYT1) 11,378,049(+) ATAAG(A/G)GTTGG nc-transcript-variant, reference, missense
rs35423344 - 11,378,373(+) GGGCG(C/G)GTTCC nc-transcript-variant, reference, missense
rs62131142 -- 11,380,021(+) TCTTG(A/G)AGCTG intron-variant
rs62131143 -- 11,381,456(+) GGGCG(C/G/T)TAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPOR Gene

Variant ID Type Subtype PubMed ID
nsv833752 CNV Loss 17160897
nsv519802 CNV Loss 19592680
nsv482213 CNV Gain 20164927

Variation tolerance for EPOR Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPOR Gene

Human Gene Mutation Database (HGMD)
EPOR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPOR Gene

Disorders for EPOR Gene

MalaCards: The human disease database

(17) MalaCards diseases for EPOR Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
primary polycythemia
  • familial erythrocytosis
erythrocytosis, somatic
  • familial erythrocytosis
acute erythroid leukemia
  • acute erythroleukemia
polycythemia
  • erythrocythemia
acquired polycythemia
  • polycythemia, secondary
- elite association - COSMIC cancer census association via MalaCards
Search EPOR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPOR_HUMAN
  • Erythrocytosis, familial, 1 (ECYT1) [MIM:133100]: An autosomal dominant disorder characterized by increased serum red blood cell mass, elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. {ECO:0000269 PubMed:8174675, ECO:0000269 PubMed:8506290, ECO:0000269 PubMed:8608241}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for EPOR Gene

erythrocytosis,primary familial polycythemia

Relevant External Links for EPOR

Genetic Association Database (GAD)
EPOR
Human Genome Epidemiology (HuGE) Navigator
EPOR
Tumor Gene Database (TGDB):
EPOR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPOR
genes like me logo Genes that share disorders with EPOR: view

Publications for EPOR Gene

  1. Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. (PMID: 8608241) Le Couedic J.-P. … Vainchenker W. (Blood 1996) 3 4 23 67
  2. Absence of functional EpoR expression in human tumor cell lines. (PMID: 20124514) Swift S. … Elliott S. (Blood 2010) 3 23
  3. RNA interference-mediated inhibition of erythropoietin receptor expression suppresses tumor growth and invasiveness in A2780 human ovarian carcinoma cells. (PMID: 19264915) Paragh G. … Acs G. (Am. J. Pathol. 2009) 3 23
  4. Erythropoietin receptor is expressed in meningiomas and lower levels are associated with tumour recurrence. (PMID: 19298633) KA1ster O. … Schittenhelm J. (Neuropathol. Appl. Neurobiol. 2009) 3 23
  5. Ligand-induced EpoR internalization is mediated by JAK2 and p85 and is impaired by mutations responsible for primary familial and congenital polycythemia. (PMID: 19336760) Sulahian R. … Huang L.J. (Blood 2009) 3 23

Products for EPOR Gene

Sources for EPOR Gene

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