Interleukin-12 receptor, beta 1, or IL-12Rβ1 in short, is a subunit of the interleukin 12 receptor and the interleukin 23 receptor. IL12RB1, is the name of its human gene.[5] IL-12Rβ1 is also known as CD212 (cluster of differentiation 212).
The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily.
This protein binds to interleukin-12 (IL-12) with a low affinity, and is part of the IL-12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL-12 binding activity. The coexpression of this and IL-12Rβ2 protein was shown to lead to the formation of high-affinity IL-12 binding sites and reconstitution of IL-12 dependent signaling.
IL-12Rβ1 can also bind interleukin-23 (IL-23) as part of the IL-23 receptor complex. This complex forms a disulfide-linked oligomer, which is required for its IL-23 binding activity. The coexpression of this and IL-23R protein was shown to lead to the formation of IL-23 binding sites.
Various mutations in this gene were found to result in the immunodeficiency of patients with severe mycobacterial and Salmonella infections.[6] Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.[5]
All mutations known in the IL12RB1 gene, as well as many polymorphisms, have been collected in a mutation database [7][8]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000096996 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000791 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: IL12RB1 interleukin 12 receptor, beta 1".
- ^ "OMIM Entry - # 614891 - IMMUNODEFICIENCY 30; IMD30". omim.org.
- ^ "The IL12RB1 gene homepage - Global Variome shared LOVD".
- ^ van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, et al. (October 2013). "IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database". Human Mutation. 34 (10): 1329–1339. doi:10.1002/humu.22380. PMC 4104692. PMID 23864330.