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    IL12RB1 interleukin 12 receptor subunit beta 1 [ Homo sapiens (human) ]

    Gene ID: 3594, updated on 8-Jul-2021

    Summary

    Official Symbol
    IL12RB1provided by HGNC
    Official Full Name
    interleukin 12 receptor subunit beta 1provided by HGNC
    Primary source
    HGNC:HGNC:5971
    See related
    Ensembl:ENSG00000096996 MIM:601604
    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
    CD212; IMD30; IL12RB; IL-12R-BETA1
    Summary
    The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
    Expression
    Biased expression in lymph node (RPKM 5.0), spleen (RPKM 4.1) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See IL12RB1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (18058994..18099027, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18169805..18209626, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NAD(P)HX epimerase pseudogene Neighboring gene ribosomal protein S18 pseudogene 13 Neighboring gene Sharpr-MPRA regulatory region 12288 Neighboring gene microtubule associated serine/threonine kinase 3 Neighboring gene phosphoinositide-3-kinase regulatory subunit 2 Neighboring gene IFI30 lysosomal thiol reductase

    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
    Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients.
    GeneReviews: Not available
    Immunodeficiency 30
    MedGen: C4013949 OMIM: 614891 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC34454

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cytokine receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to interleukin-12 receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to interleukin-12 receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to interleukin-12 receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to interleukin-23 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to interleukin-23 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to interleukin-23 receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to interferon-gamma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in interleukin-12-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interleukin-23-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T cell mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T-helper 1 type immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T-helper 1 type immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T-helper 17 cell lineage commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T-helper 17 type immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of activated T cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of activated T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of defense response to virus by host IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of defense response to virus by host ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interferon-gamma production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interferon-gamma production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of memory T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IC
    Inferred by Curator
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of interleukin-12 receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of interleukin-12 receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of interleukin-23 receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of interleukin-23 receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    interleukin-12 receptor subunit beta-1
    Names
    IL-12 receptor beta component
    IL-12 receptor subunit beta-1
    IL-12R subunit beta-1
    cluster of differentiation 212
    interleukin 12 receptor, beta 1
    interleukin-12 receptor beta-1 chain

    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_007366.2 RefSeqGene

      Range
      5134..44955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_72

    mRNA and Protein(s)

    1. NM_001290023.2NP_001276952.1  interleukin-12 receptor subunit beta-1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001276952.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the use of an alternate promoter and has multiple differences compared to variant 4, one of which results in a translational frameshift. These differences result in distinct 5' and 3' UTRs and the use of a downstream start codon, causing the encoded isoform (3, also known as Short) to contain a shorter N-terminus and a distinct C-terminus compared to isoform 4.
      Source sequence(s)
      AC020904, AI637915, BC137406, BX647221, DA008204
      UniProtKB/Swiss-Prot
      P42701
      Conserved Domains (1) summary
      cd00063
      Location:447537
      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 ...
    2. NM_001290024.1NP_001276953.1  interleukin-12 receptor subunit beta-1 isoform 4

      See identical proteins and their annotated locations for NP_001276953.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (4).
      Source sequence(s)
      AC020904, BX647221
      Conserved Domains (1) summary
      cd00063
      Location:487577
      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 ...
    3. NM_005535.3NP_005526.1  interleukin-12 receptor subunit beta-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_005526.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the use of an alternate promoter, differs in the 5' UTR and uses a downstream start codon compared to variant 4. The encoded isoform (1, also known as Long) has a shorter N-terminus compared to isoform 4.
      Source sequence(s)
      AC020904, AI637915, BX647221, DA008204, U03187
      Consensus CDS
      CCDS54232.1
      UniProtKB/Swiss-Prot
      P42701
      Related
      ENSP00000472165.2, ENST00000593993.7
      Conserved Domains (1) summary
      cd00063
      Location:447537
      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 ...
    4. NM_153701.3NP_714912.1  interleukin-12 receptor subunit beta-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_714912.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the use of an alternate promoter, differs in the 5' UTR and has a different 3' structure which results in a translational frameshift and an early stop codon compared to variant 4. The encoded isoform (2) has a shorter N-terminus and a distinct C-terminus compared to isoform 4.
      Source sequence(s)
      AC020904, BC029121, DA008204
      Consensus CDS
      CCDS32957.1
      UniProtKB/Swiss-Prot
      P42701
      Related
      ENSP00000314425.5, ENST00000322153.11

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      18058994..18099027 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527966.2XP_011526268.1  interleukin-12 receptor subunit beta-1 isoform X1

      Conserved Domains (1) summary
      cd00063
      Location:498588
      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 ...
    2. XM_011527967.2XP_011526269.1  interleukin-12 receptor subunit beta-1 isoform X2

      Conserved Domains (1) summary
      cd00063
      Location:494584
      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 ...
    3. XM_011527968.3XP_011526270.1  interleukin-12 receptor subunit beta-1 isoform X3

      Conserved Domains (1) summary
      cd00063
      Location:491581
      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 ...
    4. XM_011527969.2XP_011526271.1  interleukin-12 receptor subunit beta-1 isoform X4

      Conserved Domains (1) summary
      cd00063
      Location:487577
      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 ...
    5. XM_011527974.2XP_011526276.1  interleukin-12 receptor subunit beta-1 isoform X10

      Conserved Domains (1) summary
      cd00063
      Location:454544
      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 ...
    6. XM_011527973.2XP_011526275.1  interleukin-12 receptor subunit beta-1 isoform X9

      Conserved Domains (1) summary
      cd00063
      Location:458548
      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 ...
    7. XM_017026762.1XP_016882251.1  interleukin-12 receptor subunit beta-1 isoform X13

    8. XM_011527970.2XP_011526272.1  interleukin-12 receptor subunit beta-1 isoform X5

      Conserved Domains (1) summary
      cd00063
      Location:498588
      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 ...
    9. XM_011527972.3XP_011526274.1  interleukin-12 receptor subunit beta-1 isoform X8

      Conserved Domains (1) summary
      cd00063
      Location:498588
      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 ...
    10. XM_011527971.3XP_011526273.1  interleukin-12 receptor subunit beta-1 isoform X7

      Conserved Domains (1) summary
      cd00063
      Location:498588
      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 ...
    11. XM_006722741.3XP_006722804.2  interleukin-12 receptor subunit beta-1 isoform X6

      Conserved Domains (1) summary
      cd00063
      Location:487577
      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 ...
    12. XM_011527975.2XP_011526277.1  interleukin-12 receptor subunit beta-1 isoform X11

      Conserved Domains (1) summary
      cd00063
      Location:487577
      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 ...
    13. XM_011527976.2XP_011526278.1  interleukin-12 receptor subunit beta-1 isoform X12

      Conserved Domains (1) summary
      cd00063
      Location:498588
      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 ...
    14. XM_011527977.2XP_011526279.1  interleukin-12 receptor subunit beta-1 isoform X14

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