IL12B Chromosome 5
Interleukin 12B
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What This Gene Does
This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Immunoglobulin like domain containing|Interleukins"
Locus Type
gene with protein product
Location
5q33.3
Ensembl
ENSG00000113302
Associated Conditions (3)
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
IL12B-related disorder
Inborn genetic diseases
Key Variants
RS142998256
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS1562113724
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS56287471
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, IL12B-related disorder, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS565345523
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Inborn genetic diseases, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS74644143
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS752964137
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS764163895
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, IL12B-related disorder, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS79446920
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Inborn genetic diseases, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS1754121564
Likely pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS2113025865
Likely pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS1290071275
Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
RS1380231411
Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142998256 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS1562113724 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS56287471 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, IL12B-related disorder, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS565345523 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Inborn genetic diseases, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS74644143 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS752964137 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS764163895 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, IL12B-related disorder, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS79446920 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Inborn genetic diseases, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS1754121564 | Health Risk | Likely pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS2113025865 | Health Risk | Likely pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS1290071275 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS1380231411 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS1562113567 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS587776807 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS763190982 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS771036480 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS786201006 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS867933096 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS748215576 | Health Risk | Pathogenic/Likely pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, IL12B-related disorder, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |