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    IL12B interleukin 12B [ Homo sapiens (human) ]

    Gene ID: 3593, updated on 5-Jul-2015
    Official Symbol
    IL12Bprovided by HGNC
    Official Full Name
    interleukin 12Bprovided by HGNC
    Primary source
    HGNC:HGNC:5970
    See related
    Ensembl:ENSG00000113302; HPRD:01194; MIM:161561; Vega:OTTHUMG00000130307
    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
    CLMF; NKSF; CLMF2; IMD28; IMD29; NKSF2; IL-12B
    Summary
    This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]
    Orthologs
    See IL12B in Epigenomics, MapViewer
    Location:
    5q31.1-q33.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (159314783..159330473, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (158741791..158757481, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377682 Neighboring gene ubiquitin-like domain containing CTD phosphatase 1 Neighboring gene uncharacterized LOC105377683 Neighboring gene RNA, U4atac small nuclear 2, pseudogene Neighboring gene uncharacterized LOC285626 Neighboring gene uncharacterized LOC285627

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Immunodeficiency 29
    MedGen: CN219203 OMIM: 614890 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    NHGRI GWA Catalog
    Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
    NHGRI GWA Catalog
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    NHGRI GWA Catalog
    Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.
    NHGRI GWA Catalog
    Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
    NHGRI GWA Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    NHGRI GWA Catalog
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
    NHGRI GWA Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    NHGRI GWA Catalog
    Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.
    NHGRI GWA Catalog
    Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Levels of IL-12 in LPS-treated myeloid dendritic cells are modulated in the presence of HIV-1 gp120 PubMed
    env HIV-1 gp120 inhibits early and late production of interleukin (IL)-12 by peripheral blood mononuclear cells (PBMC) PubMed
    env Secretion of IL-12 is found in macrophages primed with gamma interferon (IFN-gamma) and subsequently treated with gp120 PubMed
    env Apoptosis of CD4+ lymphocytes induced by HIV-1 gp120 cross-linking to CD4 is inhibited by IL-12 PubMed
    env HIV-gp120 induces a significant IL-10 synthesis, which in turn inhibits IL-12 subunits mRNA accumulation and protein secretion after Staphylococcus aureus strain cowan I (SAC)-activation PubMed
    Envelope surface glycoprotein gp160, precursor env IL-7 and IL-12 significantly augment proliferative responses to HIV-1 gp160 PubMed
    env Chimeric HIV-1 gp140 - CD40L trimers can target and activate dendritic cells to release IL-6, IL-10 and IL-12 PubMed
    Nef nef IL-12 and GM-CSF increase the magnitude of the specific immune response with higher breadth by targeting HIV-1 Nef peptides (amino acids 9-23, 11-26, 140-155, 179-193, and 181-195) PubMed
    nef HIV-1 Nef upregulates IL-12 release in immature human and macaque dendritic cells PubMed
    nef IL-1beta, IL-12, and IL-15 are factors involved in the upregulation of IFN-gamma expression in coculture between Nef-pulsed iDCs and NK cells PubMed
    Tat tat HIV-1 Tat upregulates IL-12 expression in Jurkat T-cells, Raji B-cells, and monocyte-derived dendritic cells PubMed
    tat Wild-type Tat but not Cys-22 and oxidized Tat induces CD1A-expressing monocyte-derived dendritic cells (MDDC) maturation and increases the production of cytokines TNF-alpha, IL-12, MIP-1alpha, and MIP-1beta PubMed
    tat HIV-1 Tat downregulates IL-12 production by human dendritic cells by blocking extracellular calcium influx PubMed
    tat HIV-1 Tat downregulates IL-12 production by human peripheral blood mononuclear cells (PBMCs) PubMed
    matrix gag HIV-1 Matrix upregulates levels of IL-2, IL-12 and IL-15 in natural killer cells and induces natural killer cell proliferation PubMed
    reverse transcriptase gag-pol The addition of anti-IFN-gamma antibodies block the IL-12-induced downregulation of HIV-1 RT activity in HIV-1-infected macrophages PubMed

    Go to the HIV-1, Human Interaction Database

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      IL12-mediated signaling events, organism-specific biosystem
      IL12-mediated signaling events
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      IL23-mediated signaling events, organism-specific biosystem
      IL23-mediated signaling events
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      IL27-mediated signaling events
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytokine receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to growth factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    interleukin-12 alpha subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    interleukin-12 receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to interleukin-12 receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to interleukin-23 receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    T-helper 1 type immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    T-helper cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to interferon-gamma IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    cytokine-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to protozoan IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    interferon-gamma biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    natural killer cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    natural killer cell activation involved in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of growth of symbiont in host IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of inflammatory response to antigenic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interleukin-10 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-17 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of NF-kappaB import into nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of NK T cell activation IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of NK T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of NK T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T cell mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T-helper 1 type immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T-helper 1 type immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of T-helper 17 cell lineage commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of T-helper 17 type immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of activated T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of activation of JAK2 kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of defense response to virus by host IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of defense response to virus by host ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of granulocyte macrophage colony-stimulating factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of inflammatory response IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of interferon-gamma biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of interferon-gamma production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-10 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-10 production TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of interleukin-12 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-17 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of lymphocyte proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of memory T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of mononuclear cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of natural killer cell activation IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of natural killer cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of natural killer cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of osteoclast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of smooth muscle cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tissue remodeling IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of Stat3 protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of Stat4 protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of Stat5 protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cytokine biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of tyrosine phosphorylation of Stat1 protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to UV-B IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
     
    sexual reproduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 
    interleukin-12 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interleukin-23 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    interleukin-12 subunit beta
    Names
    CLMF p40
    IL-12 subunit p40
    IL12, subunit p40
    NK cell stimulatory factor chain 2
    cytotoxic lymphocyte maturation factor 40 kDa subunit
    interleukin 12, p40
    interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)
    interleukin-12 beta chain
    natural killer cell stimulatory factor, 40 kD subunit

    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_009618.1 RefSeqGene

      Range
      5001..20691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_71

    mRNA and Protein(s)

    1. NM_002187.2NP_002178.2  interleukin-12 subunit beta precursor

      See identical proteins and their annotated locations for NP_002178.2

      Status: REVIEWED

      Source sequence(s)
      AC011418, M65272, M65290
      Consensus CDS
      CCDS4346.1
      UniProtKB/Swiss-Prot
      P29460
      Related
      ENSP00000231228, OTTHUMP00000160820, ENST00000231228, OTTHUMT00000252652
      Conserved Domains (3) summary
      smart00408
      Location:4290
      IGc2; Immunoglobulin C-2 Type
      cd00063
      Location:235325
      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 ...
      pfam10420
      Location:125217
      IL12p40_C; Cytokine interleukin-12p40 C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

      Range
      159314783..159330473
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      158174226..158189916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)