Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IL12A Gene

Aliases for IL12A Gene

  • Interleukin 12A 2 3 5
  • Interleukin 12A (Natural Killer Cell Stimulatory Factor 1, Cytotoxic Lymphocyte Maturation Factor 1, P35) 2 3
  • Cytotoxic Lymphocyte Maturation Factor 35 KDa Subunit 3 4
  • Cytotoxic Lymphocyte Maturation Factor 1, P35 2 3
  • NF Cell Stimulatory Factor Chain 1 2 3
  • NK Cell Stimulatory Factor Chain 1 3 4
  • Interleukin-12 Alpha Chain 2 3
  • Interleukin 12, P35 2 3
  • IL-12, Subunit P35 2 3
  • IL35 Subunit 2 3
  • CLMF P35 3 4
  • IL-12A 3 4
  • NKSF1 3 4
  • Natural Killer Cell Stimulatory Factor 1, 35 KD Subunit 2
  • Interleukin-12 Subunit Alpha 3
  • IL-12 Subunit P35 4
  • CLMF 3
  • NFSK 3
  • P35 3

External Ids for IL12A Gene

Previous HGNC Symbols for IL12A Gene

  • NKSF1

Previous GeneCards Identifiers for IL12A Gene

  • GC03P156994
  • GC03P160653
  • GC03P160988
  • GC03P161027
  • GC03P161189
  • GC03P159706
  • GC03P157103

Summaries for IL12A Gene

Entrez Gene Summary for IL12A Gene

  • 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]

GeneCards Summary for IL12A Gene

IL12A (Interleukin 12A) is a Protein Coding gene. Diseases associated with IL12A include Primary Biliary Cholangitis and Behcet Syndrome. Among its related pathways are Akt Signaling and Immune response_IL-12 signaling pathway. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and growth factor activity.

UniProtKB/Swiss-Prot for IL12A Gene

  • Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated Killer cells, and stimulate the production of IFN-gamma by resting PBMC.

Gene Wiki entry for IL12A Gene

Additional gene information for IL12A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL12A Gene

Genomics for IL12A Gene

GeneHancer (GH) Regulatory Elements for IL12A Gene

Promoters and enhancers for IL12A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J159988 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +0.1 67 1.2 SIN3A ZNF2 IRF4 ZNF48 GLIS2 ZNF213 ZNF143 ZFP91 KLF7 ATF7 IL12A LINC01100 IL12A-AS1
GH03J159987 Enhancer 0.5 ENCODE 650.7 -1.0 -1040 0.8 CTCF IKZF1 EBF1 ZBTB20 IL12A LOC101928351 IL12A-AS1
GH03J159990 Enhancer 0.4 Ensembl 650.7 +1.7 1651 0.8 GATA3 PRDM6 ZNF223 IL12A LINC01100 IL12A-AS1
GH03J159850 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.4 -134.2 -134169 8 INSM2 SIN3A FEZF1 RFX5 ZNF121 ZNF366 RCOR1 ATF7 FOS CEBPB SCHIP1 IL12A LOC101928351 IQCJ-SCHIP1
GH03J159927 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17 -59.9 -59886 3.4 FOXA2 IRF4 SLC30A9 FOS RUNX3 RXRA PPARG KAT8 MAFF KDM1A IL12A LOC100420738 LOC101928351 IL12A-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL12A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IL12A gene promoter:
  • Ik-1
  • aMEF-2
  • MEF-2
  • MEF-2A
  • Ik-3
  • GCNF-2
  • GCNF-1
  • GCNF
  • NF-kappaB

Genomic Locations for IL12A Gene

Genomic Locations for IL12A Gene
chr3:159,988,750-159,996,019
(GRCh38/hg38)
Size:
7,270 bases
Orientation:
Plus strand
chr3:159,706,537-159,713,806
(GRCh37/hg19)
Size:
7,270 bases
Orientation:
Plus strand

Genomic View for IL12A Gene

Genes around IL12A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL12A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL12A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL12A Gene

Proteins for IL12A Gene

  • Protein details for IL12A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29459-IL12A_HUMAN
    Recommended name:
    Interleukin-12 subunit alpha
    Protein Accession:
    P29459
    Secondary Accessions:
    • Q96QZ1

    Protein attributes for IL12A Gene

    Size:
    219 amino acids
    Molecular mass:
    24874 Da
    Quaternary structure:
    • Heterodimer with IL12B; disulfide-linked. The heterodimer is known as interleukin IL-12.
    SequenceCaution:
    • Sequence=AAA59937.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IL12A Gene

neXtProt entry for IL12A Gene

Post-translational modifications for IL12A Gene

  • Glycosylation at isoforms=107 and Asn93
  • Modification sites at PhosphoSitePlus

Other Protein References for IL12A Gene

Antibody Products

No data available for DME Specific Peptides for IL12A Gene

Domains & Families for IL12A Gene

Gene Families for IL12A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for IL12A Gene

Graphical View of Domain Structure for InterPro Entry

P29459

UniProtKB/Swiss-Prot:

IL12A_HUMAN :
  • Belongs to the IL-6 superfamily.
Family:
  • Belongs to the IL-6 superfamily.
genes like me logo Genes that share domains with IL12A: view

Function for IL12A Gene

Molecular function for IL12A Gene

UniProtKB/Swiss-Prot Function:
Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated Killer cells, and stimulate the production of IFN-gamma by resting PBMC.
UniProtKB/Swiss-Prot Induction:
Down-regulated in response to enterovirus 71 (EV71) infection.
GENATLAS Biochemistry:
interleukin 12,alpha polypeptide (35kDa),dimerizing with IL12B,secreted by macrophages and dendritic cells,stimulating IFNG production

Phenotypes From GWAS Catalog for IL12A Gene

Gene Ontology (GO) - Molecular Function for IL12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 contributes_to cytokine activity TAS,IEA 1673147
GO:0005143 interleukin-12 receptor binding IEA,NAS 1674604
GO:0005515 protein binding IPI 7527811
GO:0008083 contributes_to growth factor activity IEA,NAS 1673147
GO:0042163 interleukin-12 beta subunit binding IPI 11023671
genes like me logo Genes that share ontologies with IL12A: view
genes like me logo Genes that share phenotypes with IL12A: view

Human Phenotype Ontology for IL12A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL12A Gene

MGI Knock Outs for IL12A:

Animal Model Products

miRNA for IL12A Gene

miRTarBase miRNAs that target IL12A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL12A Gene

Localization for IL12A Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL12A Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL12A gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
endosome 4
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for IL12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IEA,IDA 16456693
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with IL12A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL12A Gene

Pathways & Interactions for IL12A Gene

genes like me logo Genes that share pathways with IL12A: view

SIGNOR curated interactions for IL12A Gene

Activates:

Gene Ontology (GO) - Biological Process for IL12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001916 positive regulation of T cell mediated cytotoxicity IDA 1674604
GO:0002860 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IDA 7903063
GO:0006955 immune response IEA,TAS 9789052
GO:0007050 cell cycle arrest IDA 16942485
GO:0008283 cell proliferation IEA --
genes like me logo Genes that share ontologies with IL12A: view

Drugs & Compounds for IL12A Gene

(9) Drugs for IL12A Gene - From: PharmGKB and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 987
Ustekinumab Approved, Investigational Pharma 97
Briakinumab Investigational Pharma 0
humanized SMART Anti-IL-12 Antibody Investigational Pharma 0
AD-RTS-IL-12 Pharma 0
genes like me logo Genes that share compounds with IL12A: view

Transcripts for IL12A Gene

mRNA/cDNA for IL12A Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IL12A Gene

Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL12A Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5:

Relevant External Links for IL12A Gene

GeneLoc Exon Structure for
IL12A
ECgene alternative splicing isoforms for
IL12A

Expression for IL12A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL12A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL12A Gene

This gene is overexpressed in Esophagus - Mucosa (x6.7).

Protein differential expression in normal tissues from HIPED for IL12A Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IL12A Gene



Protein tissue co-expression partners for IL12A Gene

NURSA nuclear receptor signaling pathways regulating expression of IL12A Gene:

IL12A

SOURCE GeneReport for Unigene cluster for IL12A Gene:

Hs.673

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL12A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • head
  • meninges
  • mouth
  • neck
Thorax:
  • esophagus
Abdomen:
  • biliary tract
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • penis
  • testicle
  • vagina
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with IL12A: view

No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for IL12A Gene

Orthologs for IL12A Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL12A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL12A 34 33
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IL12A 34 33
  • 87.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IL12A 34 33
  • 87.48 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il12a 33
  • 72.09 (n)
mouse
(Mus musculus)
Mammalia Il12a 16 34 33
  • 70.76 (n)
oppossum
(Monodelphis domestica)
Mammalia IL12A 34
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IL12A 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL12A 34
  • 35 (a)
OneToOne
Species where no ortholog for IL12A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IL12A Gene

ENSEMBL:
Gene Tree for IL12A (if available)
TreeFam:
Gene Tree for IL12A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL12A: view image

Paralogs for IL12A Gene

No data available for Paralogs for IL12A Gene

Variants for IL12A Gene

Sequence variations from dbSNP and Humsavar for IL12A Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000958892 -- 159,990,720(+) C/A intron_variant
rs1001624071 -- 159,993,827(+) A/G coding_sequence_variant, missense_variant
rs1001822079 -- 159,987,432(+) A/G upstream_transcript_variant
rs1001878676 -- 159,993,209(+) C/T intron_variant
rs1002010084 -- 159,987,842(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for IL12A Gene

Variant ID Type Subtype PubMed ID
nsv829769 CNV gain 17160897

Variation tolerance for IL12A Gene

Residual Variation Intolerance Score: 45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.02; 20.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL12A Gene

Human Gene Mutation Database (HGMD)
IL12A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL12A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL12A Gene

Disorders for IL12A Gene

MalaCards: The human disease database

(5) MalaCards diseases for IL12A Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
primary biliary cholangitis
  • pbc
behcet syndrome
  • behcet disease; bd
atypical autism
  • pdd
malaria
  • malaria, susceptibility to
inflammatory bowel disease
  • inflammatory bowel diseases
- elite association - COSMIC cancer census association via MalaCards
Search IL12A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IL12A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IL12A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IL12A Gene

Publications for IL12A Gene

  1. Association of single nucleotide polymorphisms in the IL-12 (IL-12A and B) and IL-12 receptor (IL-12Rbeta1 and beta2) genes and gene-gene interactions with atopic dermatitis in Koreans. (PMID: 20060272) Namkung JH … Yang JM (Journal of dermatological science 2010) 3 22 44 58
  2. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. (PMID: 19458352) Hirschfield GM … Siminovitch KA (The New England journal of medicine 2009) 3 22 44 58
  3. Interactions of IL-12A and IL-12B polymorphisms on the risk of cervical cancer in Chinese women. (PMID: 19118071) Chen X … Hu Z (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 22 44 58
  4. Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes. (PMID: 17152005) Dhiman N … Jacobson RM (The Journal of infectious diseases 2007) 3 22 44 58
  5. Cloning of cDNA for natural killer cell stimulatory factor, a heterodimeric cytokine with multiple biologic effects on T and natural killer cells. (PMID: 1673147) Wolf SF … Hewick RM (Journal of immunology (Baltimore, Md. : 1950) 1991) 2 3 4 58

Products for IL12A Gene

Sources for IL12A Gene

Content
Loading form....