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    IL2RB interleukin 2 receptor subunit beta [ Homo sapiens (human) ]

    Gene ID: 3560, updated on 27-Nov-2024

    Summary

    Official Symbol
    IL2RBprovided by HGNC
    Official Full Name
    interleukin 2 receptor subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:6009
    See related
    Ensembl:ENSG00000100385 MIM:146710; AllianceGenome:HGNC:6009
    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
    CD122; IMD63; IL15RB; P70-75
    Summary
    The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding the same protein. The protein is primarily expressed in the hematopoietic system. The use by some variants of an alternate promoter in an upstream long terminal repeat (LTR) results in placenta-specific expression. [provided by RefSeq, Sep 2016]
    Expression
    Broad expression in spleen (RPKM 33.2), lymph node (RPKM 19.6) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IL2RB in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37125838..37175118, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37585773..37635037, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37521878..37571158, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37456737-37457594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37457595-37458452 Neighboring gene RN7SK pseudogene 214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37459305-37460128 Neighboring gene potassium channel tetramerization domain containing 17 Neighboring gene transmembrane serine protease 6 Neighboring gene uncharacterized LOC124905113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37473809-37474310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37476421-37477401 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37483940-37485139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37494011-37494516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37503983-37504484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18944 Neighboring gene IL2RB promoter Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18946 Neighboring gene IL2RB LTR promoter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37575666-37576526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37576527-37577386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37583391-37584026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37584027-37584660 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37584661-37585296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:37585297-37585930 Neighboring gene C1q and TNF related 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37593748-37594318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37594319-37594888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37607356-37608335 Neighboring gene somatostatin receptor 3 Neighboring gene ribosomal protein L39 pseudogene 41

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Immunodeficiency 63 with lymphoproliferation and autoimmunity
    MedGen: C5193126 OMIM: 618495 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A large-scale, consortium-based genomewide association study of asthma.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
    EBI GWAS Catalog
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of interleukin 2 receptor, beta (IL2RB) in human B cells PubMed
    env The inhibition of IL-2R expression and proliferation induced by the interaction of CD4 with HIV-1 envelope glycoprotein gp120 is correlated with the inhibition of expression and activation of Janus kinase JAK3 PubMed
    env HIV-1 gp120 exerts a dose-dependent reduction of IL-2 mRNA expression, IL-2 production, and surface IL-2 receptor expression in CD4+ lymphocytes PubMed
    Pr55(Gag) gag MVA-gag induces a significant release of cytokines such as IL-2R, IL-6, IL-8, TNF-alpha, IFN-gamma, MCP-1, MIP-1alpha, MIP-1beta, and RANTES by the infected monocyte-derived dendritic cells in comparison with uninfected cells PubMed
    Tat tat HIV-1 Tat downregulates IL-2R in Jurkat and H9 T-cell lines, an effect that may contribute to the immunosuppressive effects of HIV-1 Tat PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables coreceptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables interleukin-15 receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables interleukin-2 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables interleukin-2 binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables interleukin-2 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables interleukin-2 receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to interleukin-2 receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables interleukin-2 receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome TAS
    Traceable Author Statement
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of interleukin-2 receptor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    interleukin-2 receptor subunit beta
    Names
    CD122 antigen
    IL-2 receptor subunit beta
    IL-2R subunit beta
    IL-2RB
    high affinity IL-2 receptor beta subunit
    high affinity IL-2 receptor subunit beta
    interleukin 15 receptor, beta
    interleukin 2 receptor, beta
    interleukin-15 receptor subunit beta
    p75

    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.

    mRNA and Protein(s)

    1. NM_000878.5NP_000869.1  interleukin-2 receptor subunit beta precursor

      See identical proteins and their annotated locations for NP_000869.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA834613, AK312860, AL022314
      Consensus CDS
      CCDS13942.1
      UniProtKB/Swiss-Prot
      B2R765, P14784
      UniProtKB/TrEMBL
      A0A8V8TMD8, A0A8V8TP62
      Related
      ENSP00000216223.5, ENST00000216223.10
      Conserved Domains (2) summary
      smart00060
      Location:134216
      FN3; Fibronectin type 3 domain
      cl26386
      Location:386531
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    2. NM_001346222.1NP_001333151.1  interleukin-2 receptor subunit beta precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, compared to variant 1. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in placental-specific expression. Variants 1, 2 and 3 encode the same protein. (PMID: 21865161)
      Source sequence(s)
      AA834613, AL022314, Z82188
      Consensus CDS
      CCDS13942.1
      UniProtKB/Swiss-Prot
      B2R765, P14784
      UniProtKB/TrEMBL
      A0A8V8TMD8, A0A8V8TP62
      Related
      ENSP00000403731.2, ENST00000453962.6
      Conserved Domains (2) summary
      smart00060
      Location:134216
      FN3; Fibronectin type 3 domain
      cl26386
      Location:386531
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    3. NM_001346223.2NP_001333152.1  interleukin-2 receptor subunit beta precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, compared to variant 1. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in placental-specific expression. Variants 1, 2 and 3 encode the same protein. (PMID: 21865161)
      Source sequence(s)
      AL022314, Z82188
      Consensus CDS
      CCDS13942.1
      UniProtKB/Swiss-Prot
      B2R765, P14784
      UniProtKB/TrEMBL
      A0A8V8TMD8, A0A8V8TP62
      Related
      ENSP00000402685.2, ENST00000429622.6
      Conserved Domains (2) summary
      smart00060
      Location:134216
      FN3; Fibronectin type 3 domain
      cl26386
      Location:386531
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      37125838..37175118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37585773..37635037 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)