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IL12B 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. Defects in IL12B are a cause of mendelian susceptibility to mycobacterial disease (MSMD); 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. Genetic variations in IL12B are a cause of susceptibility to psoriasis type 11 (PSORS11). Psoriasis is 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. Belongs to the type I cytokine receptor family. Type 3 subfamily. Note: This description may include information from UniProtKB.
Protein type: Cytokine; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 5q33.3
Cellular Component: cytosol; endoplasmic reticulum lumen; extracellular region; extracellular space; interleukin-12 complex; membrane
Molecular Function: cytokine activity; growth factor activity; hematopoietin/interferon-class (D200-domain) cytokine receptor activity; identical protein binding; interleukin-12 alpha subunit binding; interleukin-12 receptor binding; interleukin-23 receptor binding; protein binding; protein heterodimerization activity; protein homodimerization activity
Biological Process: cell cycle arrest; cell migration; defense response to Gram-negative bacterium; defense response to protozoan; defense response to virus; interferon-gamma biosynthetic process; natural killer cell activation; natural killer cell activation involved in immune response; negative regulation of inflammatory response to antigenic stimulus; negative regulation of interleukin-10 production; negative regulation of interleukin-17 production; negative regulation of smooth muscle cell proliferation; positive regulation of activated T cell proliferation; positive regulation of cell adhesion; positive regulation of defense response to virus by host; positive regulation of granulocyte macrophage colony-stimulating factor production; positive regulation of inflammatory response; positive regulation of interferon-gamma biosynthetic process; positive regulation of interferon-gamma production; positive regulation of interleukin-10 production; positive regulation of interleukin-12 production; positive regulation of interleukin-17 production; positive regulation of lymphocyte proliferation; positive regulation of memory T cell differentiation; positive regulation of mononuclear cell proliferation; positive regulation of natural killer cell activation; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; positive regulation of natural killer cell proliferation; positive regulation of NF-kappaB import into nucleus; positive regulation of NK T cell activation; positive regulation of NK T cell proliferation; positive regulation of osteoclast differentiation; positive regulation of T cell mediated cytotoxicity; positive regulation of T cell proliferation; positive regulation of T-helper 1 type immune response; positive regulation of tissue remodeling; positive regulation of tumor necrosis factor production; positive regulation of tyrosine phosphorylation of STAT protein; regulation of cytokine biosynthetic process; regulation of tyrosine phosphorylation of STAT protein; response to UV-B; sensory perception of pain; sexual reproduction; T-helper 1 type immune response; T-helper cell differentiation
Disease: Immunodeficiency 29
Reference #:  P29460 (UniProtKB)
Alt. Names/Synonyms: CLMF; CLMF p40; CLMF2; Cytotoxic lymphocyte maturation factor 40 kDa subunit; IL-12 subunit p40; IL-12B; IL12, subunit p40; IL12B; interleukin 12, p40; interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40); interleukin-12 beta chain; Interleukin-12 subunit beta; natural killer cell stimulatory factor, 40 kD subunit; NK cell stimulatory factor chain 2; NKSF; NKSF2
Gene Symbols: IL12B
Molecular weight: 37,169 Da
Basal Isoelectric point: 5.52  Predict pI for various phosphorylation states
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