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)
End	18,098,944 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	71,274,068 bp
RNA expression pattern
	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
	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
	3594
	16161
	ENSG00000096996
	ENSMUSG00000000791
	P42701
	Q60837
	NM_001290023; NM_001290024; NM_005535; NM_153701
	NM_008353
	NP_001276952; NP_001276953; NP_005526; NP_714912
	NP_032379
	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

^ ^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.

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.

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000096996 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-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.

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v t e Proteins: clusters of differentiation (see also list of human clusters of differentiation)
1–50	CD1 a-c 1A 1B 1D 1E CD2 CD3 γ δ ε CD4 CD5 CD6 CD7 CD8 a CD9 CD10 CD11 a b c d CD13 CD14 CD15 CD16 A B CD18 CD19 CD20 CD21 CD22 CD23 CD24 CD25 CD26 CD27 CD28 CD29 CD30 CD31 CD32 A B CD33 CD34 CD35 CD36 CD37 CD38 CD39 CD40 CD41 CD42 a b c d CD43 CD44 CD45 CD46 CD47 CD48 CD49 a b c d e f CD50
51–100	CD51 CD52 CD53 CD54 CD55 CD56 CD57 CD58 CD59 CD61 CD62 E L P CD63 CD64 A B C CD66 a b c d e f CD68 CD69 CD70 CD71 CD72 CD73 CD74 CD78 CD79 a b CD80 CD81 CD82 CD83 CD84 CD85 a d e h j k CD86 CD87 CD88 CD89 CD90 CD91 - CD92 CD93 CD94 CD95 CD96 CD97 CD98 CD99 CD100
101–150	CD101 CD102 CD103 CD104 CD105 CD106 CD107 a b CD108 CD109 CD110 CD111 CD112 CD113 CD114 CD115 CD116 CD117 CD118 CD119 CD120 a b CD121 a b CD122 CD123 CD124 CD125 CD126 CD127 CD129 CD130 CD131 CD132 CD133 CD134 CD135 CD136 CD137 CD138 CD140b CD141 CD142 CD143 CD144 CD146 CD147 CD148 CD150
151–200	CD151 CD152 CD153 CD154 CD155 CD156 a b c CD157 CD158 (a d e i k) CD159 a c CD160 CD161 CD162 CD163 CD164 CD166 CD167 a b CD168 CD169 CD170 CD171 CD172 a b g CD174 CD177 CD178 CD179 a b CD180 CD181 CD182 CD183 CD184 CD185 CD186 CD191 CD192 CD193 CD194 CD195 CD196 CD197 CDw198 CDw199 CD200
201–250	CD201 CD202b CD204 CD205 CD206 CD207 CD208 CD209 CDw210 a b CD212 CD213a 1 2 CD217 CD218 (a b) CD220 CD221 CD222 CD223 CD224 CD225 CD226 CD227 CD228 CD229 CD230 CD233 CD234 CD235 a b CD236 CD238 CD239 CD240CE CD240D CD241 CD243 CD244 CD246 CD247 - CD248 CD249
251–300	CD252 CD253 CD254 CD256 CD257 CD258 CD261 CD262 CD263 CD264 CD265 CD266 CD267 CD268 CD269 CD271 CD272 CD273 CD274 CD275 CD276 CD278 CD279 CD280 CD281 CD282 CD283 CD284 CD286 CD288 CD289 CD290 CD292 CDw293 CD294 CD295 CD297 CD298 CD299
301–350	CD300A CD301 CD302 CD303 CD304 CD305 CD306 CD307 CD309 CD312 CD314 CD315 CD316 CD317 CD318 CD320 CD321 CD322 CD324 CD325 CD326 CD327 CD328 CD329 CD331 CD332 CD333 CD334 CD335 CD336 CD337 CD338 CD339 CD340 CD344 CD349 CD350

Interleukin 12 receptor, beta 1 subunit

References

Further reading

External links

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