Interleukin 12 receptor, beta 1 subunit

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).

IL12RB1
Identifiers
Aliases	IL12RB1, CD212, IL-12R-BETA1, IL12RB, IMD30, Interleukin 12 receptor beta 1 subunit, IL12 receptor beta 1 subunit, interleukin 12 receptor subunit beta 1
External IDs	OMIM: 601604 MGI: 104579 HomoloGene: 4042 GeneCards: IL12RB1
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.11 Start 18,058,995 bp[1] End 18,098,944 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 B3.3|8 34.21 cM Start 71,261,093 bp[2] End 71,274,068 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood monocyte spleen lymph node appendix amniotic fluid palpebral conjunctiva bone marrow upper lobe of left lung jejunal mucosa Top expressed in appendicular skeleton thymus spleen jejunum human mandible lesser wing of sphenoid bone ileum visual cortex rib duodenum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function interleukin-23 receptor activity interleukin-12 receptor activity interleukin-12 receptor binding cytokine receptor activity interleukin-23 binding cytokine binding Cellular component integral component of membrane interleukin-12 receptor complex membrane plasma membrane interleukin-23 receptor complex external side of plasma membrane receptor complex Biological process cytokine-mediated signaling pathway positive regulation of T cell mediated cytotoxicity positive regulation of interferon-gamma production positive regulation of T-helper 17 cell lineage commitment positive regulation of T-helper 17 type immune response positive regulation of T-helper 1 type immune response positive regulation of memory T cell differentiation cellular response to interferon-gamma signal transduction positive regulation of activated T cell proliferation positive regulation of defense response to virus by host interleukin-12-mediated signaling pathway interleukin-23-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3594 16161 Ensembl ENSG00000096996 ENSMUSG00000000791 UniProt P42701 Q60837 RefSeq (mRNA) NM_001290023 NM_001290024 NM_005535 NM_153701 NM_008353 RefSeq (protein) NP_001276952 NP_001276953 NP_005526 NP_714912 NP_032379 Location (UCSC) Chr 19: 18.06 – 18.1 Mb Chr 8: 71.26 – 71.27 Mb PubMed search [3] [4]
Wikidata
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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]