Alt. symbols: IL12RB | CD212

Approved name: interleukin 12 receptor subunit beta 1
Alt. names: interleukin 12 receptor, beta 1

Location: 19p13.11: 18058995 - 18098944 (-)
Gene type: protein_coding, 7 transcripts.

Scores: LoFtool: 0.415000 | pLI: 0.00000012 | LOEUF: 0.910

HGNC: 5971

NCBI: 3594, RefSeq: NG_007366.2

Ensembl: ENSG00000096996.16

LRG_72 | Status: public

OMIM: 601604

Expression | ProteinAtlas

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.

Biallelic mutations in IL12RB1 cause an autosomal recessive immunodeficiency, namely Immunodeficiency 30 [MIM:614891], which is characterized by increased susceptibility to systemic infections, particularly Mycobacteria, Candida, and Salmonella. Patient cells show no gamma-interferon response to IL12, and T cells show decreased or absent IL12R-beta-1 expression. Disease onset usually occurs in childhood, after BCG vaccination. To date, only nonsense, splice-ste and a couple of missense mutations (C198R, R213W) have been reported as pathogenic. [Load More]