Description: Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA. RefSeq Summary (NM_000882): This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr3:159,706,623-159,713,806 Size: 7,184 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr3:159,706,844-159,713,346 Size: 6,503 Coding Exon Count: 7
birth weight perinatal complications Bokodi, G. et al. 2006, The association of Interferon-Gamma t+874a and Interleukin-12 p40 promoter ctctaa/gc polymorphism with the need for respiratory support and perinatal complications in low birth weight neonates, Arch Dis Child Fetal Neonatal Ed 2006.
[PubMed 16754651]
Carrier state of the IFNgamma(+874)A allele presents an increased risk for premature birth and lung damage, as well as other perinatal complications. The risks of pneumonia and NEC are higher in heterozygotic carriers of the IL12 CTCTAA/GC polymorphism. Further studies are needed to determine whether these associations are the result of altered cytokine-producing capacity in infants carrying the tested alleles.
Celiac disease Hunt ,et al. 2008, Newly identified genetic risk variants for celiac disease related to the immune response, Nature genetics 2008 40- 4 : 395-402.
[PubMed 18311140]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60595
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.