IL12RB2 (interleukin 12 receptor subunit beta 2)

2007-02-01  

Identity

HGNC
IL12RB2
LOCATION
1p31.3
LOCUSID
3595
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3595
MIM: 601642
HGNC: 5972
Ensembl: ENSG00000081985

Variants:

dbSNP: 3595
ClinVar: 3595
TCGA: ENSG00000081985
COSMIC: IL12RB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081985ENST00000262345Q99665
ENSG00000081985ENST00000371000Q99665
ENSG00000081985ENST00000441640H0Y5V0
ENSG00000081985ENST00000541374A0A0A0MTN7
ENSG00000081985ENST00000544434Q99665
ENSG00000081985ENST00000648487Q99665

Expression (GTEx)

0
1
2
3
4
5
6
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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-6 family signalingREACTOMER-HSA-6783589
IL-6-type cytokine receptor ligand interactionsREACTOMER-HSA-6788467
Interleukin-12 signalingREACTOMER-HSA-447115
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
172361322007A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.285
194583522009Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.183
194583522009Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.183
206228782010Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.164
206228792010Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci.131
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
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
171520052007Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes.34
187153392008Associations between cytokine/cytokine receptor single nucleotide polymorphisms and humoral immunity to measles, mumps and rubella in a Somali population.31

Citation

Dessen P

IL12RB2 (interleukin 12 receptor subunit beta 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45862/il12rb2