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IL12B

Function

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, a 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 a 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 pro-inflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis.

Involvement in disease

Immunodeficiency 29

IMD29

A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, 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. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. 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. IMD29 is characterized by undetectable IL12B secretion from leukocytes. Affected individuals generally present with BCG disease after vaccination in childhood, and at least half also have Salmonella infection. Disease phenotype is relatively mild, and patients have a good prognosis.

None

The disease is caused by variants affecting the gene represented in this entry.

Psoriasis 11

PSORS11

A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Post-translational modifications

Known to be C-mannosylated in the recombinant protein; it is not yet known for sure if the wild-type protein is also modified.

Sequence Similarities

Belongs to the IL-12B family.

Cellular localization

Alternative names

NKSF2, IL12B, Interleukin-12 subunit beta, IL-12B, Cytotoxic lymphocyte maturation factor 40 kDa subunit, IL-12 subunit p40, NK cell stimulatory factor chain 2, CLMF p40

swissprot:P29460 entrezGene:3592 omim:161560 omim:161561 omim:605580 swissprot:P29459 swissprot:Q9NPF7 entrezGene:3593 entrezGene:51561

Other research areas