Entity Details

Primary name IL12RB1
Entity type gene
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Details

PrimaryID3594
RefseqGeneNG_007366
SymbolIL12RB1
Nameinterleukin 12 receptor subunit beta 1
Chromosome19
Location19p13.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-07-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsI12R1_HUMAN

GO terms

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GOName
GO:0001916 positive regulation of T cell mediated cytotoxicity
GO:0002230 positive regulation of defense response to virus by host
GO:0002827 positive regulation of T-helper 1 type immune response
GO:0004896 cytokine receptor activity
GO:0005886 plasma membrane
GO:0007165 signal transduction
GO:0009897 external side of plasma membrane
GO:0019221 cytokine-mediated signaling pathway
GO:0019955 cytokine binding
GO:0032729 positive regulation of interferon-gamma production
GO:0035722 interleukin-12-mediated signaling pathway
GO:0038155 interleukin-23-mediated signaling pathway
GO:0042022 interleukin-12 receptor complex
GO:0042104 positive regulation of activated T cell proliferation
GO:0043235 receptor complex
GO:0043382 positive regulation of memory T cell differentiation
GO:0071346 cellular response to interferon-gamma
GO:0072536 interleukin-23 receptor complex
GO:2000318 positive regulation of T-helper 17 type immune response
GO:2000330 positive regulation of T-helper 17 cell lineage commitment

Diseases

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Disease IDSourceNameDescription
614891 OMIMImmunodeficiency 30 (IMD30)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. IMD30 has low penetrance, and affected individuals have relatively mild disease and good prognosis. BCG disease and salmonellosis are the most frequent infections in IMD30 patients. The disease is caused by variants affecting the gene represented in this entry.