Aliases for IL12RB1 Gene
External Ids for IL12RB1 Gene
Previous HGNC Symbols for IL12RB1 Gene
Previous GeneCards Identifiers for IL12RB1 Gene
The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
GeneCards Summary for IL12RB1 Gene
IL12RB1 (Interleukin 12 Receptor, Beta 1) is a Protein Coding gene. Diseases associated with IL12RB1 include immunodeficiency 30 and mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency. Among its related pathways are Akt Signaling and PAK Pathway. GO annotations related to this gene include cytokine receptor activity and interleukin-12 receptor binding.
UniProtKB/Swiss-Prot for IL12RB1 Gene
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.