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IL12RB1 Gene

protein-coding   GIFtS: 62
GCID: GC19M018170

Interleukin 12 Receptor, Beta 1


(Previous symbol: IL12RB)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interleukin 12 Receptor, Beta 11 2     Cluster Of Differentiation 2122
IL12RB1 2 3     Interleukin-12 Receptor Beta-1 Chain2
IL-12 Receptor Beta Component2 3     Interleukin-12 Receptor Subunit Beta-12
IL-12 Receptor Subunit Beta-12 3     IL-12R-beta-13
IL-12R Subunit Beta-12 3     IL-12RB13
CD2122     IL12R3
IL-12R-BETA12     CD212 Antigen3

External Ids:    HGNC: 59711   Entrez Gene: 35942   Ensembl: ENSG000000969967   OMIM: 6016045   UniProtKB: P427013   

Export aliases for IL12RB1 gene to outside databases

Previous GC identifers: GC19M018664 GC19M018562 GC19M018015 GC19M018031 GC19M018030 GC19M017735


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IL12RB1 Gene:
The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor
superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of
IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding
activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12
binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of
interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella
infections. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Feb 2014)

GeneCards Summary for IL12RB1 Gene:
IL12RB1 (interleukin 12 receptor, beta 1) is a protein-coding gene. Diseases associated with IL12RB1 include nocardiosis, and abdominal tuberculosis. GO annotations related to this gene include cytokine receptor activity and interleukin-23 binding.

UniProtKB/Swiss-Prot: I12R1_HUMAN, P42701
Function: Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in
IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates
also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through
activation of the Jak-Stat signaling cascade

Gene Wiki entry for IL12RB1 (Interleukin 12 receptor, beta 1 subunit) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IL12RB1 gene promoter:
         Bach1   STAT1   XBP-1   Meis-1b   HEN1   HSF2   STAT3   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIL12RB1 promoter sequence
   Search Chromatin IP Primers for IL12RB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IL12RB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.1

IL12RB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL12RB1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M018170:  view genomic region     (about GC identifiers)

Start:
18,169,805 bp from pter      End:
18,209,754 bp from pter
Size:
39,950 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: I12R1_HUMAN, P42701 (See protein sequence)
Recommended Name: Interleukin-12 receptor subunit beta-1 precursor  
Size: 662 amino acids; 73109 Da
Subunit: Dimer or oligomer; disulfide-linked. Interacts with IL12RB2 to form the high affinity IL12 receptor.
Heterodimer with IL23R; in presence of IL23. The heterodimer forms the IL23 receptor
Secondary accessions: A8K308 B2RPF1 B7ZKK3 Q8N6Q7
Alternative splicing: 3 isoforms:  P42701-1   P42701-2   P42701-3   

Explore the universe of human proteins at neXtProt for IL12RB1: NX_P42701

Explore proteomics data for IL12RB1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn121, Asn329, Asn346, Asn352, Asn442, Asn456

  • See IL12RB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001276952.1  NP_001276953.1  NP_005526.1  NP_714912.1  

    ENSEMBL proteins: 
     ENSP00000472165   ENSP00000470788   ENSP00000314425   ENSP00000403103   ENSP00000468831  
     ENSP00000473051  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    CD: CD molecules
    IL: Interleukins and interleukin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Interleukin-12 receptor, beta1 subunit
    IL-12 receptor family

    3 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR003529 Hematopoietin_rcpt_Gp130_CS

    Graphical View of Domain Structure for InterPro Entry P42701

    ProtoNet protein and cluster: P42701

    1 Blocks protein domain: IPB003529 Long hematopoietin receptor

    UniProtKB/Swiss-Prot: I12R1_HUMAN, P42701
    Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular
    transport and cell-surface receptor binding
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Similarity: Belongs to the type I cytokine receptor family. Type 2 subfamily
    Similarity: Contains 5 fibronectin type-III domains


    IL12RB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: I12R1_HUMAN, P42701
    Function: Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in
    IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates
    also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through
    activation of the Jak-Stat signaling cascade

         Genatlas biochemistry entry for IL12RB1:
    interleukin 12 receptor subunit B1,heterodimerizing with IL12RB2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004896cytokine receptor activity TAS8943050
    GO:0005143contributes to interleukin-12 receptor binding IPI12023369
    GO:0005515protein binding ----
    GO:0016517contributes to interleukin-12 receptor activity IDA8943050
    GO:0019955cytokine binding ----
         
    IL12RB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IL12RB1:
     Increased HPV18 LCR reporter a 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Il12rb1):
     hematopoietic system  homeostasis/metabolism  immune system 

    IL12RB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Il12rb1tm1Jm for IL12RB1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IL12RB1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IL12RB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IL12RB1

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    hsa-miR-2114*
    SwitchGear 3'UTR luciferase reporter plasmidIL12RB1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL12RB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    I12R1_HUMAN, P42701: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009897external side of plasma membrane IEA--
    GO:0042022interleukin-12 receptor complex IDA12023369
    GO:0072536interleukin-23 receptor complex IDA12023369

    IL12RB1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IL12RB1 About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2Th1 Differentiation
    IL27-mediated signaling events0.38
    Th1 Differentiation0.38
    3Immune response IL 23 signaling pathway
    Immune response IL 23 signaling pathway0.41
    IL23-mediated signaling events0.38
    4IL12-mediated signaling events
    Immune response IL 12 induced IFN gamma production0.33
    IL12-mediated signaling events0.33
    5Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for IL12RB1
        Th1 Differentiation
    Th17 Differentiation

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for IL12RB1 (see all 8)
        THC Differentiation Pathway
    STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    p38 Signaling

    Selected GeneGo (Thomson Reuters) Pathways for IL12RB1 (see all 6)
        Immune response IL-12 signaling pathway
    Immune response IL-22 signaling pathway
    Cytokine production by Th17 cells in CF (Mouse model)
    Immune response IL-12-induced IFN-gamma production
    Cytokine production by Th17 cells in CF

    3 BioSystems Pathways for IL12RB1
        IL27-mediated signaling events
    IL12-mediated signaling events
    IL23-mediated signaling events



    3 Kegg Pathways  (Kegg details for IL12RB1):
        Cytokine-cytokine receptor interaction
    Jak-STAT signaling pathway
    Inflammatory bowel disease (IBD)


    IL12RB1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL12RB1: 
              Cell Surface Markers in human mouse rat
              Th17 Response in human mouse rat
              Interferons & Receptors in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IL12RB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IL12RB1 (P427013 ENSP000003144254) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL23RQ5VWK53, ENSP000003213454I2D: score=3 STRING: ENSP00000321345
    IL12AP294593, ENSP000003032314I2D: score=1 STRING: ENSP00000303231
    IL12BP294603, ENSP000002312284I2D: score=3 STRING: ENSP00000231228
    IL23AQ9NPF73, ENSP000002285344I2D: score=2 STRING: ENSP00000228534
    IL12RB2Q996653, ENSP000002623454I2D: score=2 STRING: ENSP00000262345
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001916positive regulation of T cell mediated cytotoxicity ISS--
    GO:0002230positive regulation of defense response to virus by host ISS--
    GO:0002827positive regulation of T-helper 1 type immune response ISS--
    GO:0007165signal transduction IC8943050
    GO:0018108peptidyl-tyrosine phosphorylation IEA--

    IL12RB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IL12RB1 (I12R1)

    5 Novoseek inferred chemical compound relationships for IL12RB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    il-12 59.7 3 20350312 (2), 15087447 (1)
    gp 130 44 2 12671732 (1), 7911493 (1)
    tyrosine 17.7 8 9637763 (1), 10861035 (1), 12661403 (1), 10491012 (1) (see all 5)
    ionomycin 8.67 1 9174602 (1)
    dexamethasone 0 4 9743329 (3)



    IL12RB1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IL12RB1 gene (4 alternative transcripts): 
    NM_001290023.1  NM_001290024.1  NM_005535.2  NM_153701.2  

    Unigene Cluster for IL12RB1:

    Interleukin 12 receptor, beta 1
    Hs.567294  [show with all ESTs]
    Unigene Representative Sequence: BX647221
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000593993 ENST00000600835 ENST00000322153(uc002nhy.3) ENST00000430026(uc002nhw.1 uc010xqb.1 uc002nhx.1)
    ENST00000598019 ENST00000594176 ENST00000597416
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK225919.1 AK290423.1 BC029121.1 BC137404.1 BC137406.1 BX647221.1 U03187.1 

    4 DOTS entries:

    DT.105004  DT.95264404  DT.121412285  DT.91647298 

    Selected AceView cDNA sequences (see all 27):

    CA306262 AA917405 U03187 NM_005535 BQ027636 NM_153701 BX281700 BM920883 
    AA353168 BE244068 AV764573 CA306092 BQ213225 BI911318 AI637915 AA311943 
    CA308107 BQ059098 BI761918 BX647221 BI908302 BC029121 AW951031 BE244073 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IL12RB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IL12RB1 Expression
    About this image

    IL12RB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IL12RB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567294
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL12RB1: 
              Cell Surface Markers in human mouse rat
              Th17 Response in human mouse rat
              Interferons & Receptors in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL12RB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IL12RB1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Il12rb11 , 5 interleukin 12 receptor, beta 11, 5 68.49(n)1
    56.66(a)1
      8 (34.21 cM)5
    161611  NM_008353.21  NP_032379.21 
     708084495 
    chicken
    (Gallus gallus)
    Aves IL12RB11 interleukin 12 receptor, beta 1 47.82(n)
    31.15(a)
      101749221  XM_004948915.1  XP_004948972.1 
    lizard
    (Anolis carolinensis)
    Reptilia IL12RB16
    interleukin 12 receptor, beta 1
    32(a)
    1 ↔ 1
    GL344866.1(21-7819)


    ENSEMBL Gene Tree for IL12RB1 (if available)
    TreeFam Gene Tree for IL12RB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IL12RB1 (see all 970)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0155774
    Mendelian susceptibility to mycobacterial disease (MSMD)4--see VAR_0155772 R W mis40--------
    rs1214344921,2
    Cother118125646(-) GTTTTC/TAGGAC 4 Q * stg10--------
    rs3678236051,2
    C--18101372(+) GGGTGC/GGATGG 1 -- ds50010--------
    rs178785431,2
    C,F,H--18101384(-) ATGACG/AGTCCT 1 -- ds50015Minor allele frequency- A:0.00NS NA 410
    rs4047331,2
    C,F,A,H--18101401(+) CACAAT/AGTTTA 1 -- ds500119Minor allele frequency- A:0.48EA MN NS NA CSA WA 2725
    rs1856662031,2
    --18101478(+) TGAGTA/CCAGAC 1 -- ds50010--------
    rs1172903751,2
    C,F--18101581(+) CCAGAA/GCAGGT 1 -- ds50011Minor allele frequency- G:0.03EA 120
    rs1176124941,2
    C,F--18101636(+) GGGTGC/TAGCAG 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1469892351,2
    C--18101697(+) CAGGCA/GCGGGG 1 -- ds50010--------
    rs37461901,2
    C,F--18101789(-) TCGCCC/TGAGGC 1 -- ut3110Minor allele frequency- T:0.28NS NA WA EA EU 882

    HapMap Linkage Disequilibrium report for IL12RB1 (18169805 - 18209754 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for IL12RB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911240CNV Loss21882294
    nsv833773CNV Loss17160897
    nsv470130CNV Loss18288195
    dgv3771n71CNV Loss21882294
    nsv911235CNV Loss21882294
    nsv911236CNV Loss21882294
    nsv911238CNV Gain21882294
    dgv3770n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): IL12RB1
    Locus Specific Mutation Databases (LSDB): IL12RB1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IL12RB1
    DNA2.0 Custom Variant and Variant Library Synthesis for IL12RB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601604   
    OMIM disorders: 209950  
    UniProtKB/Swiss-Prot: I12R1_HUMAN, P42701
  • Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: This rare condition confers
    predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin
    (BCG) vaccine and 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. The
    pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity
    determines the clinical outcome. 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. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant
    or X-linked inheritance. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for IL12RB1 (see all 69):    About MalaCards
    nocardiosis    abdominal tuberculosis    mycobacterial and salmonella infections    mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency
    mycobacterium fortuitum    familial atypical mycobacteriosis, il12rb1-related    myocarditis    autoimmune myocarditis
    mycobacterium avium complex disease    primary biliary cirrhosis    lepromatous leprosy    plasmodium vivax malaria
    klebsiella    tuberculosis    subacute sclerosing panencephalitis    sarcoidosis
    leprosy    lymphadenitis    pulmonary tuberculosis    pulmonary sarcoidosis

    1 disease from the University of Copenhagen DISEASES database for IL12RB1:
    Tuberculosis

    IL12RB1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for IL12RB1 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mycobacterial infection 67.8 1 11020837 (1)
    salmonella infections 45.8 2 9603733 (1), 11034424 (1)
    tuberculosis disseminated 42.8 2 15736007 (2)
    immune disorder 41 1 12165204 (1)
    tuberculosis 38.4 9 9973527 (2), 20212068 (1), 12856223 (1), 15004750 (1) (see all 7)
    sarcoidosis pulmonary 33.6 2 10508796 (2)
    sarcoidosis 32.1 5 17827837 (2), 15004750 (1), 10508796 (1)
    tuberculosis pulmonary 27.8 5 15243935 (2), 10508796 (2), 18493823 (1)
    autoimmune diseases 22.3 2 11024530 (1), 10900337 (1)
    immunodeficiency 18.7 2 9603733 (1), 17917041 (1)

    Genatlas disease: IL12RB1
    susceptibility to BCG,non tuberculous mycobacterial and salmonella infections,with the presence of mature
    granulomas and a secundary impairment of IFNG production

    Genetic Association Database (GAD): IL12RB1
    Human Genome Epidemiology (HuGE) Navigator: IL12RB1 (49 documents)

    Export disorders for IL12RB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for IL12RB1 gene, integrated from 10 sources (see all 223):
    (articles sorted by number of sources associating them with IL12RB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes. (PubMed id 16159888)1, 4, 9 Takahashi N....Shirakawa T. (Hum. Mol. Genet. 2005)
    2. 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. (PubMed id 20060272)1, 4, 9 Namkung J.H....Yang J.M. (J. Dermatol. Sci. 2010)
    3. Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus. (PubMed id 15941730)1, 4, 9 SA!nchez E....MartA-n J. (Rheumatology (Oxford) 2005)
    4. Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea. (PubMed id 12743658)1, 4, 9 Lee S.B....Chae G.T. (Immunogenetics 2003)
    5. Interleukin-12 receptor beta-1 deficiency in a patient with abdominal tuberculosis. (PubMed id 11424023)1, 2, 9 Altare F.... Casanova J.-L. (J. Infect. Dis. 2001)
    6. Expression cloning of a human IL-12 receptor component. A new member of the cytokine receptor superfamily with strong homology to gp130. (PubMed id 7911493)1, 2, 9 Chua A.O....Gubler U. (J. Immunol. 1994)
    7. Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population. (PubMed id 12719941)1, 4, 9 Bassuny W.M....Hara T. (Immunogenetics 2003)
    8. A receptor for the heterodimeric cytokine IL-23 is composed of IL- 12Rbeta1 and a novel cytokine receptor subunit, IL-23R. (PubMed id 12023369)1, 2, 9 Parham C.... Moore K.W. (J. Immunol. 2002)
    9. Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malarial anaemia in children in western Kenya. (PubMed id 20350312)1, 4, 9 Zhang L....Shi Y.P. (Malar. J. 2010)
    10. Interleukin-12 receptor beta1 polymorphisms and nontuberculous mycobacterial lung diseases. (PubMed id 18493823)1, 4, 9 Park H.Y....Koh W.J. (Lung 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3594 HGNC: 5971 AceView: IL12RB1 Ensembl:ENSG00000096996 euGenes: HUgn3594
    ECgene: IL12RB1 Kegg: 3594 H-InvDB: IL12RB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for IL12RB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IL12RB1 Genetics and Cytogenetics in Oncology and Haematology
    IL12RB1basehttp://bioinf.uta.fi/IL12RB1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IL12RB1[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/il12rb1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IL12RB1 gene:
    Search GeneIP for patents involving IL12RB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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