Version: 8.0.0
Date: Tue Jan 28 2025
IL12RB1
Homo sapiensHGNC:5971
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

IL12RB1

Species
Homo sapiens
Symbol
IL12RB1
Name
interleukin 12 receptor subunit beta 1
Synonyms
  • CD212
  • cluster of differentiation 212
Biotype
protein coding gene
Automated Description
Enables coreceptor activity. Contributes to cytokine receptor activity; interleukin-12 receptor binding activity; and interleukin-23 binding activity. Involved in several processes, including cellular response to cytokine stimulus; positive regulation of activated T cell proliferation; and positive regulation of defense response to virus by host. Part of interleukin-12 receptor complex and interleukin-23 receptor complex. Implicated in immunodeficiency 30. Biomarker of primary biliary cholangitis.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23036
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          IL12RB1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            IL12RB1 role
            IL12RB1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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