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
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

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, Esther; Haverkamp, Margje H; Ramirez-Alejo, Noe; Martinez-Gallo, Mónica; Blancas-Galicia, Lizbeth; Metin, Ayşe; Garty, Ben Zion; Sun-Tan, Çağman; Broides, Arnon; De Paus, Roelof A; Keskin, Özlem; Çağdaş, Deniz; Tezcan, Ilhan; Lopez-Ruzafa, Encarna; Aróstegui, Juan I; Levy, Jacov; Espinosa-Rosales, Francisco J; Sanal, Özden; Santos-Argumedo, Leopoldo; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; Van Dissel, Jaap T; Bustamante, Jacinta (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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.