Gene: IL12RB1

Alternate names for this Gene: CD212|IL-12R-BETA1|IL12RB|IMD30

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: interleukin 12 receptor subunit beta 1

Type of Gene: protein-coding

rs121434494 in IL12RB1 gene and IMMUNODEFICIENCY 30 PMID 11424023 2001 Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.

PMID 27141500 2016 Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children.

PMID 12591909 2003 Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.

PMID 9603733 1998 Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients.

PMID 21057261 2010 Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

rs2305742 in IL12RB1 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs2305743 in IL12RB1 gene and Systemic Scleroderma PMID 31672989 2019 GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.