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Aliases for IL12B Gene

Aliases for IL12B Gene

  • Interleukin 12B 2 3 5
  • Interleukin 12B (Natural Killer Cell Stimulatory Factor 2, Cytotoxic Lymphocyte Maturation Factor 2, P40) 2 3
  • Cytotoxic Lymphocyte Maturation Factor 40 KDa Subunit 3 4
  • NK Cell Stimulatory Factor Chain 2 3 4
  • Interleukin-12 Beta Chain 2 3
  • IL-12 Subunit P40 3 4
  • CLMF P40 3 4
  • IL-12B 3 4
  • NKSF2 3 4
  • Natural Killer Cell Stimulatory Factor, 40 KD Subunit 3
  • Natural Killer Cell Stimulatory Factor-2 2
  • Cytotoxic Lymphocyte Maturation Factor 2 2
  • Natural Killer Cell Stimulatory Factor 2
  • Interleukin 12, P40 3
  • IL12, Subunit P40 3
  • Interleukin 12 2
  • 40 KD Subunit 2
  • Subunit P40 2
  • IMD28 3
  • CLMF2 3
  • IMD29 3
  • CLMF 3
  • IL12 2
  • NKSF 3
  • P40 2

External Ids for IL12B Gene

Previous HGNC Symbols for IL12B Gene

  • NKSF2

Previous GeneCards Identifiers for IL12B Gene

  • GC05M158596
  • GC05M159251
  • GC05M158722
  • GC05M158674
  • GC05M153836
  • GC05M158741

Summaries for IL12B Gene

Entrez Gene Summary for IL12B Gene

  • 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]

GeneCards Summary for IL12B Gene

IL12B (Interleukin 12B) is a Protein Coding gene. Diseases associated with IL12B include Immunodeficiency 29, Mycobacteriosis and Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12b Deficiency. Among its related pathways are Th17 Differentiation Pathway and ERK Signaling. GO annotations related to this gene include protein homodimerization activity and protein heterodimerization activity.

UniProtKB/Swiss-Prot for IL12B 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.

  • Associates with IL23A to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak-Stat signaling cascade, stimulates memory rather than naive T-cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis.

Gene Wiki entry for IL12B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL12B Gene

Genomics for IL12B Gene

Regulatory Elements for IL12B Gene

Enhancers for IL12B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IL12B on UCSC Golden Path with GeneCards custom track

Promoters for IL12B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IL12B on UCSC Golden Path with GeneCards custom track

Genomic Location for IL12B Gene

Chromosome:
5
Start:
159,314,783 bp from pter
End:
159,330,887 bp from pter
Size:
16,105 bases
Orientation:
Minus strand

Genomic View for IL12B Gene

Genes around IL12B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL12B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL12B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL12B Gene

Proteins for IL12B Gene

  • Protein details for IL12B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29460-IL12B_HUMAN
    Recommended name:
    Interleukin-12 subunit beta
    Protein Accession:
    P29460

    Protein attributes for IL12B Gene

    Size:
    328 amino acids
    Molecular mass:
    37169 Da
    Quaternary structure:
    • Heterodimer with IL12A; disulfide-linked. The heterodimer is known as interleukin IL-12. Heterodimer with IL23A; disulfide-linked. The heterodimer is known as interleukin IL-23. Also secreted as a monomer.

    Three dimensional structures from OCA and Proteopedia for IL12B Gene

neXtProt entry for IL12B Gene

Proteomics data for IL12B Gene at MOPED

Post-translational modifications for IL12B Gene

  • Known to be C-mannosylated in the recombinant protein; it is not yet known for sure if the wild-type protein is also modified.
  • Glycosylation at Asn 135, Asn 222, and Trp 319
  • Modification sites at PhosphoSitePlus

Other Protein References for IL12B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for IL12B (IL-12/IL-23 p40)

No data available for DME Specific Peptides for IL12B Gene

Domains & Families for IL12B Gene

Suggested Antigen Peptide Sequences for IL12B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P29460

UniProtKB/Swiss-Prot:

IL12B_HUMAN :
  • Contains 1 fibronectin type-III domain.
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
Domain:
  • Contains 1 fibronectin type-III domain.
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
Family:
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
genes like me logo Genes that share domains with IL12B: view

Function for IL12B Gene

Molecular function for IL12B Gene

GENATLAS Biochemistry:
interleukin 12,beta polypeptide (40kDa),dimerizing with IL12A,secreted by macrophages and dendritic cells,stimulating IFNG production,chemotactic molecule for macrophages,antagonizing IL12P70
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 Function:
Associates with IL23A to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak-Stat signaling cascade, stimulates memory rather than naive T-cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis.

Gene Ontology (GO) - Molecular Function for IL12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008083 contributes_to growth factor activity IDA 1674604
GO:0045519 contributes_to interleukin-23 receptor binding IDA 11114383
genes like me logo Genes that share ontologies with IL12B: view
genes like me logo Genes that share phenotypes with IL12B: view

Human Phenotype Ontology for IL12B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL12B Gene

MGI Knock Outs for IL12B:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL12B Gene

Localization for IL12B Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL12B Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IL12B Gene COMPARTMENTS Subcellular localization image for IL12B gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for IL12B Gene

Pathways & Interactions for IL12B Gene

genes like me logo Genes that share pathways with IL12B: view

SIGNOR curated interactions for IL12B Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for IL12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001916 positive regulation of T cell mediated cytotoxicity ISS --
GO:0002323 natural killer cell activation involved in immune response IEA --
GO:0002827 positive regulation of T-helper 1 type immune response IEA,ISS --
GO:0002860 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IDA 7903063
GO:0002862 negative regulation of inflammatory response to antigenic stimulus IEA --
genes like me logo Genes that share ontologies with IL12B: view

Drugs & Compounds for IL12B Gene

(23) Drugs for IL12B Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ustekinumab Approved, Investigational Pharma antibody, Target 77
5-Mercapto-2-Nitro-Benzoic Acid Experimental Pharma Target 0
humanized SMART Anti-IL-12 Antibody Investigational Pharma Target 0
ABT-874 Investigational Pharma Target 0
AD-RTS-IL-12 Pharma 0

(16) Additional Compounds for IL12B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL12B: view

Transcripts for IL12B Gene

mRNA/cDNA for IL12B Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IL12B Gene

Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IL12B Gene

No ASD Table

Relevant External Links for IL12B Gene

GeneLoc Exon Structure for
IL12B
ECgene alternative splicing isoforms for
IL12B

Expression for IL12B Gene

mRNA expression in normal human tissues for IL12B Gene

mRNA differential expression in normal tissues according to GTEx for IL12B Gene

This gene is overexpressed in Pituitary (x10.9).

SOURCE GeneReport for Unigene cluster for IL12B Gene Hs.674

genes like me logo Genes that share expression patterns with IL12B: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for IL12B Gene

Orthologs for IL12B Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL12B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia IL12B 35
  • 88.24 (n)
  • 84.97 (a)
IL12B 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IL12B 35
  • 87.4 (n)
  • 84.76 (a)
IL12B 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Il12b 35
  • 75.47 (n)
  • 69.57 (a)
Il12b 16
Il12b 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IL12B 35
  • 99.39 (n)
  • 99.39 (a)
IL12B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il12b 35
  • 76.71 (n)
  • 69.25 (a)
oppossum
(Monodelphis domestica)
Mammalia IL12B 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IL12B 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL12B 35
  • 56.54 (n)
  • 48.04 (a)
IL-12B 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IL12B 36
  • 27 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii il12ba 35
  • 46.27 (n)
  • 34.33 (a)
IL12B (3 of 3) 36
  • 23 (a)
OneToMany
il12ba 36
  • 23 (a)
OneToMany
il12bb 36
  • 23 (a)
OneToMany
Species with no ortholog for IL12B:
  • 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)
  • 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)

Evolution for IL12B Gene

ENSEMBL:
Gene Tree for IL12B (if available)
TreeFam:
Gene Tree for IL12B (if available)

Paralogs for IL12B Gene

No data available for Paralogs for IL12B Gene

Variants for IL12B Gene

Sequence variations from dbSNP and Humsavar for IL12B Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs3213096 - 159,323,321(-) ATGTC(A/G)TAGAA reference, missense
rs3213119 - 159,316,780(-) CCACG(G/T)TCATC reference, missense
rs730690 -- 159,329,158(+) ATGAC(A/G)CTTGG intron-variant
rs730691 -- 159,329,219(+) AGTTA(C/T)TATTA intron-variant
rs889058 -- 159,329,378(+) tGCTA(C/T)TGTGG intron-variant

Variation tolerance for IL12B Gene

Residual Variation Intolerance Score: 65.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IL12B Gene

Human Gene Mutation Database (HGMD)
IL12B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for IL12B Gene

Disorders for IL12B Gene

MalaCards: The human disease database

(13) MalaCards diseases for IL12B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 29, mycobacteriosis
  • immunodeficiency 29
mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency
  • msmd due to complete il12b deficiency
familial atypical mycobacteriosis, il12b-related
takayasu's arteritis
  • aortic arch arteritis
tuberculosis
  • tuberculosis of mother, with delivery
- elite association - COSMIC cancer census association via MalaCards
Search IL12B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IL12B_HUMAN
  • Immunodeficiency 29 (IMD29) [MIM:614890]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD29 is characterized by undetectable IL12B secretion from leukocytes. Affected individuals generally present with BCG disease after vaccination in childhood, and at least half also have Salmonella infection. Disease phenotype is relatively mild, and patients have a good prognosis. {ECO:0000269 PubMed:11753820, ECO:0000269 PubMed:9854038}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Psoriasis 11 (PSORS11) [MIM:612599]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Genatlas disease for IL12B Gene

susceptibility to BCG,non tuberculous mycobacterial and salmonella infections,with the presence of mature granulomas and a secundary impairment of IFNG production

Relevant External Links for IL12B

Genetic Association Database (GAD)
IL12B
Human Genome Epidemiology (HuGE) Navigator
IL12B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IL12B
genes like me logo Genes that share disorders with IL12B: view

Publications for IL12B Gene

  1. 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 S.F. … Perussia B. (J. Immunol. 1991) 2 3 4 23 67
  2. Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malarial anaemia in children in western Kenya. (PMID: 20350312) Zhang L. … Shi Y.P. (Malar. J. 2010) 3 23
  3. Haplotypes of IL12B promoter polymorphisms condition susceptibility to severe malaria and functional changes in cytokine levels in Thai adults. (PMID: 20387064) Phawong C. … Khusmith S. (Immunogenetics 2010) 3 23
  4. Interleukin-10 (-592 C/A) and interleukin-12B (+16974 A/C) gene polymorphisms and the interleukin-10 ATA haplotype are associated with periodontitis in a Taiwanese population. (PMID: 19210338) Hu K.F. … Tsai C.C. (J. Periodont. Res. 2009) 3 23
  5. Evaluation of IL12B as a candidate type I diabetes susceptibility gene using data from the Type I Diabetes Genetics Consortium. (PMID: 19956104) Morahan G. … James I. (Genes Immun. 2009) 3 23

Products for IL12B Gene

Sources for IL12B Gene

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