IL12B
entrez
3593
canonical
uniprot
P29460
canonical
ensembl
ENSG00000113302
resolver
ensp
ENSP00000231228
resolver
enst
ENST00000231228
resolver
genesymbol
IL12B
resolver
genesymbol_syn
NKSF2
resolver
hgnc
HGNC:5970
resolver
uniprot_entry
IL12B_HUMAN
resolver
amino_acid_sequence
MCHQQLVISWFSLVFLASPLVAIWELKKDVYVVELDWYPDAPGEMVVLTCDTPEEDGITWTLDQSSEVLGSGKTLTIQVKEFGDAGQYTCHKGGEVLSHSLLLLHKKEDGIWSTDILKDQKEPKNKTFLRCEAKNYSGRFTCWWLTTISTDLTFSVKSSRGSSDPQGVTCGAATLSAERVRGDNKEYEYSVECQEDSACPAAEESLPIEVMVDAVHKLKYENYTSSFFIRDIIKPDPPKNLQLKPLKNSRQVEVSWEYPDTWSTPHSYFSLTFCVQVQGKSKREKKDRVFTDKTSATVICRKNASISVRAQDRYYSSSWSEWASVPCS
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 29 (IMD29) [MIM:614890]: 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. {ECO:0000269|PubMed:11753820, ECO:0000269|PubMed:9854038}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Psoriasis 11 (PSORS11) [MIM:612599]: 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. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:11114383}.; FUNCTION: 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. {ECO:0000269|PubMed:11114383}.
uniprot
proteins
mass_dalton
37169
uniprot
proteins
post_translational_modification
PTM: Known to be C-mannosylated in the recombinant protein; it is not yet known for sure if the wild-type protein is also modified.
uniprot
proteins
protein_family
IL-12B family
uniprot
proteins
pubmed
10207176
uniprot
proteins
pubmed
10899108
uniprot
proteins
pubmed
11114383
uniprot
proteins
pubmed
11197695
uniprot
proteins
pubmed
11753820
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1673147
uniprot
proteins
pubmed
1674604
uniprot
proteins
pubmed
17587057
uniprot
proteins
pubmed
18680750
uniprot
proteins
pubmed
18708069
uniprot
proteins
pubmed
18800148
uniprot
proteins
pubmed
2070420
uniprot
proteins
pubmed
2204066
uniprot
proteins
pubmed
7836910
uniprot
proteins
pubmed
9854038
uniprot
proteins
sequence_length
328
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins