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IL12B interleukin 12B [ Homo sapiens (human) ]

Gene ID: 3593, updated on 2-Aug-2021

Summary

Official Symbol
IL12Bprovided by HGNC
Official Full Name
interleukin 12Bprovided by HGNC
Primary source
HGNC:HGNC:5970
See related
Ensembl:ENSG00000113302 MIM:161561
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See IL12B in Genome Data Viewer
Location:
5q33.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (159314780..159330487, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (158741788..158757495, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1932 Neighboring gene ubiquitin like domain containing CTD phosphatase 1 Neighboring gene uncharacterized LOC105377683 Neighboring gene uncharacterized LOC107986469 Neighboring gene RNA, U4atac small nuclear 2, pseudogene Neighboring gene uncharacterized LOC285626 Neighboring gene long intergenic non-protein coding RNA 1845

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
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
GeneReviews: Not available
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
GeneReviews: Not available
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
GeneReviews: Not available
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.
GeneReviews: Not available
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.
GeneReviews: Not available
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
GeneReviews: Not available
Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.
GeneReviews: Not available
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Immunodeficiency 29
MedGen: C4013948 OMIM: 614890 GeneReviews: Not available
Compare labs
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
GeneReviews: Not available
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
GeneReviews: Not available
Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.
GeneReviews: Not available
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV/tuberculosis coinfection upregulates IL12B expression in pleural fluid mononuclear cells (PFMC) isolated from antiretroviral-naive coinfected patients (relative to patients infected with only tuberculosis) PubMed

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 HIV-1 Nef specifically incorporates CSF2, PPBP (NAP2), CCL5, TNF, FAS, CXCL1, IL12B, MIF and OSM into plasma extracellular vesicles from HIV-1 infected patient samples PubMed
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, monocyte-derived dendritic cells, and primary human Muller glia 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
Vpr vpr HIV-1 Vpr downregulates the expression of IL12B in human monocyte-derived dendritic cells 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to cytokine activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
contributes_to growth factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables interleukin-12 alpha subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables interleukin-12 alpha subunit binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to interleukin-12 receptor binding TAS
Traceable Author Statement
more info
PubMed 
enables 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 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in T-helper 1 type immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in T-helper cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
involved_in cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
PubMed 
involved_in defense response to protozoan IEA
Inferred from Electronic Annotation
more info
 
involved_in defense response to virus IEA
Inferred from Electronic Annotation
more info
 
involved_in natural killer cell activation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in natural killer cell activation involved in immune response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of interleukin-10 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of interleukin-17 production IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of protein secretion IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of negative regulation of vascular endothelial growth factor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of NIK/NF-kappaB signaling TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of NK T cell activation IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of NK T cell activation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of NK T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of T cell mediated cytotoxicity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of activation of Janus kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell adhesion 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 granulocyte macrophage colony-stimulating factor production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of inflammatory response IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of interferon-gamma production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interferon-gamma production TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of interleukin-10 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interleukin-10 production TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of interleukin-12 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interleukin-17 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of lymphocyte proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of memory T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of mononuclear cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of natural killer cell activation IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of natural killer cell activation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of natural killer cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of osteoclast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of smooth muscle cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of tissue remodeling IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of tumor necrosis factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of tyrosine phosphorylation of STAT protein IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cytokine production TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of tyrosine phosphorylation of STAT protein IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to UV-B IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
involved_in sexual reproduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in extracellular space TAS
Traceable Author Statement
more info
PubMed 
part_of interleukin-12 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of interleukin-12 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of interleukin-23 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of interleukin-23 complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in late endosome lumen 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 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

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_009618.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_002187.3NP_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
    ENSP00000231228.2, ENST00000231228.3
    Conserved Domains (4) 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:126216
    IL12p40_C; Cytokine interleukin-12p40 C-terminus
    cd00096
    Location:3841
    Ig; Ig strand A' [structural motif]

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    159314780..159330487 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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