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IL12B
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IL12B

The information on this page was extracted automatically from online scientific databases.

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What is the official name of the IL12B gene?

The official name of this gene is “interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40).”

IL12B is the gene's official symbol. The IL12B gene is also known by other names, listed below.

What is the normal function of the IL12B gene?

From Entrez GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC.Associates with IL23A to form the IL-23 interleukin, an heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to an heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak-Stat signaling cascade, stimulates memory rather than naive T-cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis.

How are changes in the IL12B gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the IL12B gene's involvement in human disease.

Defects in IL12B are a cause of mendelian susceptibility to mycobacterial disease (MSMD)[1]This link leads to a site outside Genetics Home Reference.; also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.

Entrez GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known to be associated with changes in the IL12B gene.
  • Asthma, susceptibility to[2]This link leads to a site outside Genetics Home Reference.
  • BCG and salmonella infection, disseminated[1]This link leads to a site outside Genetics Home Reference.
  • Psoriasis, susceptibility to[3]This link leads to a site outside Genetics Home Reference.
UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]209950This link leads to a site outside Genetics Home Reference.ATYPICAL MYCOBACTERIOSIS, FAMILIAL
[2]600807This link leads to a site outside Genetics Home Reference.ASTHMA, SUSCEPTIBILITY TO
[3]177900This link leads to a site outside Genetics Home Reference.PSORIASIS SUSCEPTIBILITY 1; PSORS1

Where is the IL12B gene located?

Cytogenetic Location: 5q31.1-q33.1

Molecular Location on chromosome 5: base pairs 158,741,790 to 158,757,480

The IL12B gene is located on the long (q) arm of chromosome 5 between positions 31.1 and 33.1.

The IL12B gene is located on the long (q) arm of chromosome 5 between positions 31.1 and 33.1.

More precisely, the IL12B gene is located from base pair 158,741,790 to base pair 158,757,480 on chromosome 5.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about IL12B?

You and your healthcare professional may find the following resources about IL12B helpful.

  • Gene TestsThis link leads to a site outside Genetics Home Reference. - DNA tests ordered by healthcare professionals

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the IL12B gene or gene products?

  • CLMF
  • CLMF2
  • IL-12B
  • NKSF
  • NKSF2

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding IL12B?

acute ; atypical ; autoimmune ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; central nervous system ; cytokine ; expressed ; familial ; gene ; granuloma ; growth factor ; IFN ; infection ; inflammation ; inheritance ; interferons ; intracellular ; killer cells ; lesion ; macrophage ; mediate ; mutation ; mycobacterium ; natural killer cells ; nervous system ; NK cells ; peripheral ; polymorphism ; predisposition ; promoter ; psoriasis ; receptor ; recessive ; sclerosis ; subunit ; susceptibility ; T-cells ; tissue ; tuberculosis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: November 20, 2009