InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IL12RB1

Summary

InnateDB Protein

IDBP-375791.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IL12RB1

Protein Name

interleukin 12 receptor, beta 1

Synonyms

CD212; IL-12R-BETA1; IL12RB; IMD30;

Species

Homo sapiens

Ensembl Protein

ENSP00000403103

InnateDB Gene

IDBG-37559 (IL12RB1)

Protein Structure

UniProt Annotation

Function

Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade. {ECO:0000269PubMed:12023369}.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: 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. {ECO:0000269PubMed:11424023}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.