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    EPOR erythropoietin receptor [ Homo sapiens (human) ]

    Gene ID: 2057, updated on 20-Apr-2017
    Official Symbol
    EPORprovided by HGNC
    Official Full Name
    erythropoietin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:3416
    See related
    Ensembl:ENSG00000187266 MIM:133171; Vega:OTTHUMG00000182027
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EPO-R
    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]
    Orthologs
    Location:
    19p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (11377205..11384342, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11487881..11495018, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene phospholipid phosphatase related 2 Neighboring gene SWIM-type zinc finger 7 associated protein 1 Neighboring gene ral guanine nucleotide dissociation stimulator like 3 Neighboring gene coiled-coil domain containing 151 Neighboring gene protein kinase C substrate 80K-H

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • EPO Receptor Signaling, organism-specific biosystem (from WikiPathways)
      EPO Receptor Signaling, organism-specific biosystemThe erythropoietin receptor is a 66 kDa peptide and is a member of the cytokine receptor family. The receptor is tyrosine phosphorylated upon binding by erythropoietin and associates with and activat...
    • EPO signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      EPO signaling pathway, organism-specific biosystem
      EPO signaling pathway
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Paxillin-independent events mediated by a4b1 and a4b7, organism-specific biosystem (from Pathway Interaction Database)
      Paxillin-independent events mediated by a4b1 and a4b7, organism-specific biosystem
      Paxillin-independent events mediated by a4b1 and a4b7
    • Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem
      Signaling events mediated by Stem cell factor receptor (c-Kit)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: RGL3

    Homology

    Clone Names

    • MGC138358

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    erythropoietin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    decidualization IEA
    Inferred from Electronic Annotation
    more info
     
    erythropoietin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021395.1 RefSeqGene

      Range
      5001..12138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000121.3NP_000112.1  erythropoietin receptor precursor

      See identical proteins and their annotated locations for NP_000112.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC024575, BC019092, BU619338, M60459
      Consensus CDS
      CCDS12260.1
      UniProtKB/Swiss-Prot
      P19235
      Related
      ENSP00000222139.5, OTTHUMP00000268114, ENST00000222139.10, OTTHUMT00000458791
      Conserved Domains (2) summary
      cd00063
      Location:146244
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam09067
      Location:37140
      EpoR_lig-bind; Erythropoietin receptor, ligand binding

    RNA

    1. NR_033663.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC024575, BC019092, BU619338

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      11377205..11384342 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      11488891..11496028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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