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    EPOR erythropoietin receptor [ Homo sapiens (human) ]

    Gene ID: 2057, updated on 17-Jun-2024

    Summary

    Official Symbol
    EPORprovided by HGNC
    Official Full Name
    erythropoietin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:3416
    See related
    Ensembl:ENSG00000187266 MIM:133171; AllianceGenome:HGNC:3416
    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]
    Expression
    Broad expression in bone marrow (RPKM 14.6), thyroid (RPKM 11.4) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See EPOR in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11377207..11384314, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11504177..11511284, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11487883..11494990, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11467020-11467961 Neighboring gene phospholipid phosphatase related 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14012 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11492093-11492630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14015 Neighboring gene SWIM-type zinc finger 7 associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10110 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11514342-11514533 Neighboring gene ral guanine nucleotide dissociation stimulator like 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11516407-11517358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10111 Neighboring gene outer dynein arm docking complex subunit 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11546061-11546560 Neighboring gene PRKCSH beta subunit of glucosidase II

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: RGL3

    Clone Names

    • MGC138358

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables erythropoietin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables erythropoietin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in decidualization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythropoietin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hemopoiesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5029..12136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000121.4NP_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
      B2RCG4, P19235, Q15443, Q2M205
      UniProtKB/TrEMBL
      I6RPE1
      Related
      ENSP00000222139.5, ENST00000222139.11
      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_033663.2 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      11377207..11384314 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11504177..11511284 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)