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EPOR Gene(Protein Coding)

Erythropoietin Receptor

GCID:
GC19M011377
GIFtS:
59
Genes Participants
UDN Logo

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 Erythrocytosis, Familial, 1 and Primary Polycythemia. Among its related pathways are Beta-Adrenergic Signaling and ERK Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and erythropoietin receptor activity.

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

Additional gene information for EPOR Gene

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

Genomics for EPOR Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EPOR Gene

Promoters and enhancers for EPOR Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19I011379 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.0 1976 5.1 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 EPOR KRI1 ILF3 TIMM29 ZNF44 ZNF136 ZNF433 ZNF878 ZNF20 ZNF563
GH19I011317 Enhancer 1.2 Ensembl ENCODE 11.7 +62.5 62460 8.6 PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B NFYC JUNB REST ENSG00000267576 HSPC102 ENSG00000267174 TSPAN16 ILF3 TIMM29 ZNF844 ZNF433 ZNF627 KRI1
GH19I011452 Enhancer 1 Ensembl dbSUPER 12.1 -69.4 -69398 2.5 ARID4B ZNF48 RARA TCF12 ZNF366 ZNF143 THAP11 ZNF362 CEBPB ATF4 ELAVL3 TSPAN16 EPOR SWSAP1 GC19M011460 CCDC151
GH19I011360 Enhancer 0.9 Ensembl ENCODE 12.2 +22.6 22620 2.2 CTCF KLF1 MAX SIN3A ZIC2 HIC1 GLIS2 MTA3 POLR2A SCRT2 RGL3 PLPPR2 EPOR TSPAN16 SWSAP1
GH19I011279 Enhancer 0.9 Ensembl ENCODE 12 +104.2 104247 1.1 NFIB EBF1 IRF4 RELA ZNF157 POLR2A ZNF143 ATF7 PRDM10 ZNF548 ENSG00000267174 ILF3 ZNF136 CDC37 KRI1 EPOR ZNF700 RAVER1 ZNF844 ZNF627
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPOR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPOR gene promoter:

Genomic Locations for EPOR Gene

Genomic Locations for EPOR Gene
chr19:11,377,205-11,384,342
(GRCh38/hg38)
Size:
7,138 bases
Orientation:
Minus strand
chr19:11,487,881-11,495,018
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for EPOR Gene

Proteins for EPOR Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for EPOR Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 posLast=281281 and posLast=453453
  • Glycosylation at Asn76
  • Modification sites at PhosphoSitePlus

Other Protein References for EPOR Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

No data available for DME Specific Peptides for EPOR Gene

Domains & Families for EPOR Gene

Gene Families for EPOR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins

Protein Domains for EPOR Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EPOR Gene

GenScript: Design optimal peptide antigens:

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.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

Phenotypes From GWAS Catalog for EPOR Gene

Gene Ontology (GO) - Molecular Function for EPOR Gene

GO ID Qualified GO term Evidence PubMed IDs
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
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

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPOR gene
Compartment Confidence
plasma membrane 5
extracellular 4
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 1848667
GO:0016020 membrane IEA --
GO:0016021 integral component of 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:0007165 signal transduction IEA,NAS 1668606
GO:0007420 brain development IEA --
GO:0007507 heart development IEA --
GO:0019221 cytokine-mediated signaling pathway IEA --
GO:0038162 erythropoietin-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with EPOR: view

Drugs & Compounds for EPOR Gene

Products:

  1. Drug

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

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 197
Methoxy polyethylene glycol-epoetin beta Approved Pharma Target, stimulator 0
Peginesatide Approved, Investigational Pharma Target, stimulator 0
Dibromotyrosine Experimental Pharma Target 0

(22) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EPOR Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(181) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPOR Gene

Erythropoietin receptor:
Representative Sequences:

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPOR Gene

mRNA expression in normal human tissues for EPOR Gene
mRNA expression by GTEx for EPOR GenemRNA expression by BioGPS 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



Protein tissue co-expression partners for EPOR Gene

NURSA nuclear receptor signaling pathways regulating expression of EPOR Gene:

EPOR

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.

Evidence on tissue expression from TISSUES for EPOR Gene

  • Blood(4.6)
  • Bone marrow(4.6)
  • Nervous system(4.5)
  • Kidney(2.6)
  • Heart(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPOR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • meninges
  • neck
  • nose
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • liver
  • spleen
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with EPOR: view

Orthologs for EPOR Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPOR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia EPOR 33 34
  • 95.01 (n)
dog
(Canis familiaris)
 Mammalia EPOR 33 34
  • 85.27 (n)
cow
(Bos Taurus)
 Mammalia EPOR 33 34
  • 84.78 (n)
mouse
(Mus musculus)
 Mammalia Epor 33 16 34
  • 82.31 (n)
rat
(Rattus norvegicus)
 Mammalia Epor 33
  • 81.33 (n)
oppossum
(Monodelphis domestica)
 Mammalia EPOR 34
  • 52 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia EPOR 34
  • 50 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EPOR 34
  • 41 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii epor 33 34 34
  • 45.82 (n)
Species where no ortholog for EPOR was found in the sources mined by GeneCards:
  • 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

No data available for Paralogs for EPOR Gene

Variants for EPOR Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for EPOR Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs114645751 likely-benign, Familial erythrocytosis 11,381,839(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs121917830 pathogenic, Familial erythrocytosis, 1 11,378,195(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs121917831 affects, Familial erythrocytosis, 1 11,378,233(-) G/A/C coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs121918116 pathogenic, affects, Familial erythrocytosis, 1 11,378,194(-) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs138190746 likely-benign, Familial erythrocytosis 11,378,113(-) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv482213 CNV gain 20164927
nsv519802 CNV loss 19592680
nsv833752 CNV loss 17160897

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)

Additional Variant Information for EPOR Gene

Human Gene Mutation Database (HGMD)
EPOR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPOR

SNP Genotyping and Copy Number Assay Products

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

Disorders for EPOR Gene

MalaCards: The human disease database

(19) MalaCards diseases for EPOR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
erythrocytosis, familial, 1
  • ecyt1
primary polycythemia
  • familial erythrocytosis
polycythemia
  • polycythemia vera
acquired polycythemia
  • polycythemia, secondary
hemangioblastoma
  • capillary hemangioblastoma
- 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: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

Additional Disease Information for EPOR

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

Publications for EPOR Gene

  1. A new high affinity binding site for suppressor of cytokine signaling-3 on the erythropoietin receptor. (PMID: 12027890) Hörtner M … Haan S (European journal of biochemistry 2002) 3 4 22 58
  2. Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. (PMID: 8608241) Le Couedic JP … Vainchenker W (Blood 1996) 3 4 22 58
  3. Involvement of SH2-containing phosphotyrosine phosphatase Syp in erythropoietin receptor signal transduction pathways. (PMID: 7534299) Tauchi T … Broxmeyer HE (The Journal of biological chemistry 1995) 3 4 22 58
  4. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. (PMID: 8506290) de la Chapelle A … Juvonen E (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 22 58
  5. Absence of functional EpoR expression in human tumor cell lines. (PMID: 20124514) Swift S … Elliott S (Blood 2010) 3 22 58

Products for EPOR Gene

Sources for EPOR Gene

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