IL12B
interleukin 12B
Summary
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]
Known Variants194 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs574914587 | 5:158,741,797 | A/T | — | uncertain significance |
| rs886060352 | 5:158,741,877 | T/C | — | uncertain significance |
| rs1368439 | 5:158,742,014 | G/T | upstream gene variant | benign |
| rs527479600 | 5:158,742,040 | C/A | — | uncertain significance |
| rs1173400885 | 5:158,742,073 | G/A | — | uncertain significance |
| rs547204212 | 5:158,742,093 | A/T | — | uncertain significance |
| rs1231770457 | 5:158,742,125 | T/A | — | uncertain significance |
| rs1753967299 | 5:158,742,152 | G/A | — | uncertain significance |
| rs56409614 | 5:158,742,226 | G/T | — | benign |
| rs563941424 | 5:158,742,269 | C/T | — | uncertain significance |
| rs549706242 | 5:158,742,329 | C/T | — | uncertain significance |
| rs41292468 | 5:158,742,363 | G/A | — | uncertain significance |
| rs369157824 | 5:158,742,413 | G/C | — | uncertain significance |
| rs3213114 | 5:158,742,589 | G/A | — | likely benign |
| rs528573168 | 5:158,742,612 | G/A | — | uncertain significance |
| rs868227011 | 5:158,742,623 | T/C | — | uncertain significance |
| rs1306457489 | 5:158,742,672 | T/C | — | uncertain significance |
| rs181215530 | 5:158,742,701 | G/A | — | uncertain significance |
| rs1278298751 | 5:158,742,714 | T/A | — | uncertain significance |
| rs542242777 | 5:158,742,785 | A/G | — | uncertain significance |
| rs561157719 | 5:158,742,816 | C/T | — | likely benign |
| rs56396672 | 5:158,742,879 | G/A | — | uncertain significance |
| rs3213113 | 5:158,742,884 | T/G | — | benign |
| rs3212227 | 5:158,742,950 | T/G | upstream gene variant | benign |
| rs3213120 | 5:158,743,108 | C/T | splice region variant | benign |
| rs56064925 | 5:158,743,707 | C/T | — | uncertain significance |
| rs934330712 | 5:158,743,715 | C/A | — | uncertain significance |
| rs201512006 | 5:158,743,719 | C/T | — | uncertain significance |
| rs752964137 | 5:158,743,720 | G/A | — | conflicting classifications of pathogenicity |
| rs1331258990 | 5:158,743,729 | T/C | — | likely benign |
| rs756372086 | 5:158,743,732 | G/A | — | likely benign |
| rs377524637 | 5:158,743,742 | C/A | — | uncertain significance |
| rs371280399 | 5:158,743,743 | G/A | — | uncertain significance |
| rs571398445 | 5:158,743,747 | C/G | — | uncertain significance |
| rs1183474762 | 5:158,743,754 | C/T | — | uncertain significance |
| rs771683283 | 5:158,743,755 | G/T | — | likely benign |
| rs373042362 | 5:158,743,758 | C/T | — | uncertain significance |
| rs768523225 | 5:158,743,759 | G/A | — | likely benign |
| rs776601045 | 5:158,743,766 | C/T | — | uncertain significance |
| rs377511395 | 5:158,743,778 | C/T | — | uncertain significance |
| rs780789325 | 5:158,743,779 | G/A | — | uncertain significance |
| rs1290071275 | 5:158,743,780 | G/T | — | pathogenic |
| rs150902695 | 5:158,743,783 | G/A | — | likely benign |
| rs3213119 | 5:158,743,788 | C/A | missense variant | benign |
| rs186003445 | 5:158,743,789 | C/T | — | likely benign |
| rs374661285 | 5:158,743,790 | G/A | — | uncertain significance |
| rs2480198382 | 5:158,743,795 | T/G | — | likely benign |
| rs754181801 | 5:158,743,798 | G/A | — | likely benign |
| rs757678113 | 5:158,743,799 | G/A | — | uncertain significance |
| rs150030340 | 5:158,743,806 | C/A | — | uncertain significance |
| rs144356274 | 5:158,743,807 | C/T | — | likely benign |
| rs367828574 | 5:158,743,808 | G/A | — | uncertain significance |
| rs139163137 | 5:158,743,810 | G/A | — | likely benign |
| rs144054146 | 5:158,743,816 | T/C | — | likely benign |
| rs370904274 | 5:158,743,817 | C/G | — | likely benign |
| rs776481806 | 5:158,743,818 | T/C | — | uncertain significance |
| rs146408881 | 5:158,743,820 | T/A | — | uncertain significance |
| rs1584751948 | 5:158,743,829 | A/G | — | likely benign |
| rs1216313899 | 5:158,743,831 | A/G | — | likely benign |
| rs2113022909 | 5:158,743,843 | G/A | — | likely benign |
| rs11574790 | 5:158,743,846 | G/A | regulatory region variant | benign |
| rs1214362082 | 5:158,745,725 | C/T | — | likely benign |
| rs1754031353 | 5:158,745,744 | C/A | — | uncertain significance |
| rs1161516624 | 5:158,745,746 | T/C | — | uncertain significance |
| rs1584752692 | 5:158,745,750 | T/C | — | likely benign |
| rs1754031591 | 5:158,745,751 | C/G | — | uncertain significance |
| rs2480201511 | 5:158,745,765 | C/T | — | likely benign |
| rs372475701 | 5:158,745,770 | C/T | — | uncertain significance |
| rs189324104 | 5:158,745,776 | C/T | — | uncertain significance |
| rs764163895 | 5:158,745,777 | G/A | — | conflicting classifications of pathogenicity |
| rs2480201570 | 5:158,745,816 | G/C | — | likely benign |
| rs1754033004 | 5:158,745,820 | T/C | — | uncertain significance |
| rs74644143 | 5:158,745,850 | C/T | — | conflicting classifications of pathogenicity |
| rs192540461 | 5:158,745,861 | T/C | — | uncertain significance |
| rs372926766 | 5:158,745,863 | A/G | — | likely benign |
| rs2113024282 | 5:158,745,867 | C/T | — | likely benign |
| rs1405873943 | 5:158,745,886 | G/A | — | uncertain significance |
| rs768677098 | 5:158,745,891 | G/C | — | uncertain significance |
| rs776726308 | 5:158,745,896 | G/A | — | uncertain significance |
| rs761924828 | 5:158,745,911 | A/G | — | likely benign |
| rs200529978 | 5:158,745,915 | T/C | — | likely benign |
| rs2113025865 | 5:158,747,309 | C/T | — | likely pathogenic |
| rs2113025886 | 5:158,747,330 | G/A | — | likely benign |
| rs55661460 | 5:158,747,334 | C/T | — | benign |
| rs1754064448 | 5:158,747,337 | C/A | — | uncertain significance |
| rs1754064502 | 5:158,747,339 | G/C | — | likely benign |
| rs149027358 | 5:158,747,342 | G/A | — | benign |
| rs748215576 | 5:158,747,351 | A/T | — | pathogenic |
| rs79446920 | 5:158,747,368 | C/T | — | conflicting classifications of pathogenicity |
| rs149273360 | 5:158,747,369 | G/A | — | likely benign |
| rs1354465878 | 5:158,747,377 | C/G | — | uncertain significance |
| rs2113025980 | 5:158,747,378 | C/T | — | uncertain significance |
| rs1432039327 | 5:158,747,379 | A/G | — | uncertain significance |
| rs905944344 | 5:158,747,384 | C/T | — | likely benign |
| rs138127918 | 5:158,747,388 | A/G | — | uncertain significance |
| rs760025343 | 5:158,747,389 | T/C | — | uncertain significance |
| rs1166346097 | 5:158,747,391 | G/A | — | uncertain significance |
| rs1554156466 | 5:158,747,399 | C/G | — | uncertain significance |
| rs142400793 | 5:158,747,456 | C/T | — | likely benign |
| rs1252290124 | 5:158,747,459 | G/A | — | likely benign |
Showing 100 of 194 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.