IL12RB1 (interleukin 12 receptor subunit beta 1)

2003-11-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
CD212,IL-12R-BETA1,IL12RB,IMD30
FUSION GENES

Other Information

Locus ID:

NCBI: 3594
MIM: 601604
HGNC: 5971
Ensembl: ENSG00000096996

Variants:

dbSNP: 3594
ClinVar: 3594
TCGA: ENSG00000096996
COSMIC: IL12RB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000096996ENST00000322153P42701
ENSG00000096996ENST00000430026X6RGM1
ENSG00000096996ENST00000593993P42701
ENSG00000096996ENST00000594176M0R382
ENSG00000096996ENST00000598019M0QX06
ENSG00000096996ENST00000600835P42701

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
Jak-STAT signaling pathwayKEGGko04630
Cytokine-cytokine receptor interactionKEGGhsa04060
Jak-STAT signaling pathwayKEGGhsa04630
Inflammatory bowel disease (IBD)KEGGhsa05321
Inflammatory bowel disease (IBD)KEGGko05321
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-12 signalingREACTOMER-HSA-447115
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659

References

Pubmed IDYearTitleCitations
172361322007A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.285
185914122008Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.182
206398802010Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.124
192490082009Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease.109
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
192476922009Analyses of associations with asthma in four asthma population samples from Canada and Australia.39
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
151785802004A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors.34

Citation

Dessen P

IL12RB1 (interleukin 12 receptor subunit beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40941/il12rb1