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 Subunit Beta 1) is a Protein Coding gene. Diseases associated with IL12RB1 include Immunodeficiency 30 and Familial Atypical Mycobacteriosis, Il12rb1-Related. Among its related pathways are Th17 Differentiation Pathway and ERK Signaling. 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.