Human Gene IL12A (uc003fcx.3)
  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 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:159,706,623-159,713,806)mRNA (may differ from genome)Protein (253 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IL12A
CDC HuGE Published Literature: IL12A
Positive Disease Associations: birth weight perinatal complications , Celiac disease , Liver Cirrhosis, Biliary , multiple sclerosis , primary biliary cirrhosis , Waist-Hip Ratio
Related Studies:
  1. 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.
  2. 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]
  3. Celiac disease
    Dubois ,et al. Nat Genet 2010, Multiple common variants for celiac disease influencing immune gene expression , Nature genetics 2010 42- 4 : 295-302. [PubMed 20190752]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: IL12A
Diseases sorted by gene-association score: primary biliary cholangitis* (9), behcet syndrome* (6), atypical autism (6), malaria (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.92 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 27.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -93.30221-0.422 Picture PostScript Text
3' UTR -95.60460-0.208 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009079 - 4_helix_cytokine-like_core
IPR012351 - 4_helix_cytokine_core
IPR004281 - IL12

Pfam Domains:
PF03039 - Interleukin-12 alpha subunit

SCOP Domains:
47266 - 4-helical cytokines

ModBase Predicted Comparative 3D Structure on O60595
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005125 cytokine activity
GO:0005143 interleukin-12 receptor binding
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0042163 interleukin-12 beta subunit binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0006955 immune response
GO:0008283 cell proliferation
GO:0010469 regulation of receptor activity
GO:0032609 interferon-gamma production
GO:0032729 positive regulation of interferon-gamma production
GO:0032946 positive regulation of mononuclear cell proliferation
GO:0035711 T-helper 1 cell activation
GO:0035744 T-helper 1 cell cytokine production
GO:0042102 positive regulation of T cell proliferation
GO:0042832 defense response to protozoan
GO:0045582 positive regulation of T cell differentiation
GO:0071222 cellular response to lipopolysaccharide

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0009986 cell surface
GO:0043514 interleukin-12 complex


-  Descriptions from all associated GenBank mRNAs
  BC035571 - Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35), mRNA (cDNA clone IMAGE:5240216), with apparent retained intron.
BC104982 - Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35), mRNA (cDNA clone MGC:132642 IMAGE:8143985), complete cds.
BC104984 - Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35), mRNA (cDNA clone MGC:132644 IMAGE:8143987), complete cds.
M65291 - Human natural killer cell stimulatory factor (NKSF) mRNA, complete cds, clone p35.
JD437931 - Sequence 418955 from Patent EP1572962.
M65271 - Human cytotoxic lymphocyte maturation factor 35 kDa subunit mRNA, complete cds.
AF180562 - Homo sapiens interleukin 12, P35 mRNA, complete cds.
AB528728 - Synthetic construct DNA, clone: pF1KB6994, Homo sapiens IL12A gene for interleukin 12A, without stop codon, in Flexi system.
KJ891465 - Synthetic construct Homo sapiens clone ccsbBroadEn_00859 IL12A gene, encodes complete protein.
AF101062 - Homo sapiens interleukin 12 mRNA, complete cds.
JD458712 - Sequence 439736 from Patent EP1572962.
JD167220 - Sequence 148244 from Patent EP1572962.
JD564061 - Sequence 545085 from Patent EP1572962.
JD251473 - Sequence 232497 from Patent EP1572962.
JD233868 - Sequence 214892 from Patent EP1572962.
JD284295 - Sequence 265319 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04620 - Toll-like receptor signaling pathway
hsa04622 - RIG-I-like receptor signaling pathway
hsa04630 - Jak-STAT signaling pathway
hsa04940 - Type I diabetes mellitus
hsa05140 - Leishmaniasis
hsa05142 - Chagas disease
hsa05330 - Allograft rejection

BioCarta from NCI Cancer Genome Anatomy Project
h_th1th2Pathway - Th1/Th2 Differentiation

-  Other Names for This Gene
  Alternate Gene Symbols: hCG_1685939, NM_000882, NP_000873, O60595, O60595_HUMAN
UCSC ID: uc003fcx.3
RefSeq Accession: NM_000882
Protein: O60595 CCDS: CCDS3187.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000882.3
exon count: 7CDS single in 3' UTR: no RNA size: 1450
ORF size: 762CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1721.00frame shift in genome: no % Coverage: 99.52
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.