IL12RB1
Identifiers
AliasesIL12RB1, CD212, IL-12R-BETA1, IL12RB, IMD30, Interleukin 12 receptor beta 1 subunit, IL12 receptor beta 1 subunit, interleukin 12 receptor subunit beta 1
External IDsOMIM: 601604 MGI: 104579 HomoloGene: 4042 GeneCards: IL12RB1
Orthologs
SpeciesHumanMouse
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 MbChr 8: 71.26 – 71.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000096996 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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, Garty BZ, Sun-Tan Ç, Broides A, De Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova J, Boisson-Dupuis S, Van Dissel JT, Bustamante J (2013). "IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database". Human Mutation. 34 (10): 1329–1339. doi:10.1002/humu.22380. PMC 4104692. PMID 23864330.

Further reading

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

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