IL12RB1 (interleukin 12 receptor subunit beta 1)

2003-11-01  

Identity

HGNC
IL12RB1
LOCATION
19p13.11
LOCUSID
3594
ALIAS
CD212,IL-12R-BETA1,IL12RB,IMD30
FUSION GENES
Show Gene Fusions

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
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-12 signalingREACTOMER-HSA-447115
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659

References

Pubmed IDYearTitleCitations
383177982024Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.0
383177982024Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.0
360074272022IL12RB1 allele bias in human T(H) cells is regulated by functional SNPs in its 3'UTR.0
360074272022IL12RB1 allele bias in human T(H) cells is regulated by functional SNPs in its 3'UTR.0
344380842021Novel IL-12Rβ1 deficiency-mediates recurrent cutaneous leishmaniasis.3
344380842021Novel IL-12Rβ1 deficiency-mediates recurrent cutaneous leishmaniasis.3
322217322020Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.0
322217322020Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.0
295995142019Human IL12RB1 expression is allele-biased and produces a novel IL12 response regulator.3
309987512019Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.5
311582842019Characterization of two novel mutations in IL-12R signaling in MSMD patients.1
313500622019Mendelian susceptibility to mycobacterial disease: Clinical and immunological findings of patients suspected for IL12Rβ1 deficiency.2
315679362019Associations of IL-12, IL12R polymorphisms and serum IL-12 levels with high-risk human papillomavirus susceptibility in rural women from Luohe, Henan, China.3
317412362019Novel nonsense IL-12Rβ1 mutation associated with recurrent tuberculosis.1
295995142019Human IL12RB1 expression is allele-biased and produces a novel IL12 response regulator.3

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-(interleukin-12-receptor-subunit-beta-1)