Interleukin 12 receptor, beta 1 subunit

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; OMA:IL12RB1 - orthologs
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 granulocyte blood monocyte spleen lymph node appendix buccal mucosa cell amniotic fluid palpebral conjunctiva epithelium of nasopharynx Top expressed in appendicular skeleton thymus embryo granulocyte embryo spleen facial skeleton jejunum mandible lesser wing of sphenoid bone 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
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000096996 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000000791 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: IL12RB1 interleukin 12 receptor, beta 1".
6. "OMIM Entry - # 614891 - IMMUNODEFICIENCY 30; IMD30". omim.org.
7. "The IL12RB1 gene homepage - Global Variome shared LOVD".
8. 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.

Further reading

• van de Vosse E, Lichtenauer-Kaligis EG, van Dissel JT, Ottenhoff TH (March 2003). "Genetic variations in the interleukin-12/interleukin-23 receptor (beta1) chain, and implications for IL-12 and IL-23 receptor structure and function". Immunogenetics. 54 (12): 817–829. doi:10.1007/s00251-002-0534-9. PMID 12671732. S2CID 34119140.
• Ling P, Gately MK, Gubler U, Stern AS, Lin P, Hollfelder K, et al. (January 1995). "Human IL-12 p40 homodimer binds to the IL-12 receptor but does not mediate biologic activity". Journal of Immunology. 154 (1): 116–127. doi:10.4049/jimmunol.154.1.116. PMID 7527811.
• Gillessen S, Carvajal D, Ling P, Podlaski FJ, Stremlo DL, Familletti PC, et al. (January 1995). "Mouse interleukin-12 (IL-12) p40 homodimer: a potent IL-12 antagonist". European Journal of Immunology. 25 (1): 200–206. doi:10.1002/eji.1830250133. PMID 7843232. S2CID 41702014.
• Chua AO, Chizzonite R, Desai BB, Truitt TP, Nunes P, Minetti LJ, et al. (July 1994). "Expression cloning of a human IL-12 receptor component. A new member of the cytokine receptor superfamily with strong homology to gp130". Journal of Immunology. 153 (1): 128–136. doi:10.4049/jimmunol.153.1.128. PMID 7911493. S2CID 9211163.
• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Presky DH, Yang H, Minetti LJ, Chua AO, Nabavi N, Wu CY, et al. (November 1996). "A functional interleukin 12 receptor complex is composed of two beta-type cytokine receptor subunits". Proceedings of the National Academy of Sciences of the United States of America. 93 (24): 14002–14007. Bibcode:1996PNAS...9314002P. doi:10.1073/pnas.93.24.14002. PMC 19484. PMID 8943050.
• Gubler U, Presky DH (October 1996). "Molecular biology of interleukin-12 receptors". Annals of the New York Academy of Sciences. 795 (1): 36–40. Bibcode:1996NYASA.795...36G. doi:10.1111/j.1749-6632.1996.tb52653.x. PMID 8958915. S2CID 84507162.
• Zou J, Presky DH, Wu CY, Gubler U (February 1997). "Differential associations between the cytoplasmic regions of the interleukin-12 receptor subunits beta1 and beta2 and JAK kinases". The Journal of Biological Chemistry. 272 (9): 6073–6077. doi:10.1074/jbc.272.9.6073. PMID 9038232.
• Yamamoto K, Kobayashi H, Miura O, Hirosawa S, Miyasaka N (1997). "Assignment of IL12RB1 and IL12RB2, interleukin-12 receptor beta 1 and beta 2 chains, to human chromosome 19 band p13.1 and chromosome 1 band p31.2, respectively, by in situ hybridization". Cytogenetics and Cell Genetics. 77 (3–4): 257–258. doi:10.1159/000134589. PMID 9284929.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Igarashi O, Yamane H, Imajoh-Ohmi S, Nariuchi H (February 1998). "IL-12 receptor (IL-12R) expression and accumulation of IL-12R beta 1 and IL-12R beta 2 mRNAs in CD4+ T cells by costimulation with B7-2 molecules". Journal of Immunology. 160 (4): 1638–1646. doi:10.4049/jimmunol.160.4.1638. PMID 9469420.
• de Jong R, Altare F, Haagen IA, Elferink DG, Boer T, van Breda Vriesman PJ, et al. (May 1998). "Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients". Science. 280 (5368): 1435–1438. Bibcode:1998Sci...280.1435D. doi:10.1126/science.280.5368.1435. PMID 9603733.
• Kawashima T, Kawasaki H, Kitamura T, Nojima Y, Morimoto C (May 1998). "Interleukin-12 induces tyrosine phosphorylation of an 85-kDa protein associated with the interleukin-12 receptor beta 1 subunit". Cellular Immunology. 186 (1): 39–44. doi:10.1006/cimm.1998.1294. PMID 9637763.
• Yao BB, Niu P, Surowy CS, Faltynek CR (August 1999). "Direct interaction of STAT4 with the IL-12 receptor". Archives of Biochemistry and Biophysics. 368 (1): 147–155. doi:10.1006/abbi.1999.1302. PMID 10415122.
• Oppmann B, Lesley R, Blom B, Timans JC, Xu Y, Hunte B, et al. (November 2000). "Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12". Immunity. 13 (5): 715–725. doi:10.1016/S1074-7613(00)00070-4. PMID 11114383.
• Altare F, Ensser A, Breiman A, Reichenbach J, Baghdadi JE, Fischer A, et al. (July 2001). "Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis". The Journal of Infectious Diseases. 184 (2): 231–236. doi:10.1086/321999. PMID 11424023.
• Losana G, Rigamonti L, Borghi I, Assenzio B, Ariotti S, Jouanguy E, et al. (March 2002). "Requirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cells". European Journal of Immunology. 32 (3): 693–700. doi:10.1002/1521-4141(200203)32:3<693::AID-IMMU693>3.0.CO;2-Q. PMID 11857344. S2CID 83984408.
• Parham C, Chirica M, Timans J, Vaisberg E, Travis M, Cheung J, et al. (June 2002). "A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R". Journal of Immunology. 168 (11): 5699–5708. doi:10.4049/jimmunol.168.11.5699. PMID 12023369.
• Cleary AM, Tu W, Enright A, Giffon T, Dewaal-Malefyt R, Gutierrez K, et al. (January 2003). "Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency". Journal of Immunology. 170 (1): 597–603. doi:10.4049/jimmunol.170.1.597. PMID 12496448.

External links

• IL12RB1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.