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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IL12RB1 Gene

protein-coding   GIFtS: 62
GCID: GC19M018170

interleukin 12 receptor, beta 1


(Previous symbol: IL12RB)
 Explore 68 diseases affiliated with
IL12RB1 via our new
 Human Malady Compendium 
Biological research products
for IL12RB1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Interleukin 12 Receptor, Beta 11 2     Interleukin-12 Receptor Beta-1 Chain2
IL12RB1 2 3     Interleukin-12 Receptor Subunit Beta-12
CD2121 2     IL-12R-Beta-11
IL-12 Receptor Beta Component2 3     IL-12RB13
IL-12 Receptor Subunit Beta-12 3     IL12R3
IL-12R Subunit Beta-12 3     CD212 Antigen3
IL-12R-BETA12     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IL12RB1:
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. The lack of expression of this gene was found to result in the
immunodeficiency of patients with severe mycobacterial and Salmonella infections. Two alternatively spliced transcript
variants of this gene encoding distinct isoforms have been reported. (provided by RefSeq, Jul 2008)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for IL12RB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
18,170,371 bp from pter      End:
18,197,697 bp from pter
Size:
27,327 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Membrane; Single-pass type I membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P42701

  • IL12RB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_005526.1  NP_714912.1  

    ENSEMBL proteins: 
     ENSP00000403103   ENSP00000314425  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    IL12RB1 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    IL12RB1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate IL12RB1:
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    Inhib. RNA
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004896cytokine receptor activity TAS8943050
    GO:0005143contributes to interleukin-12 receptor binding IPI12023369
    GO:0016517contributes to interleukin-12 receptor activity IDA8943050
    GO:0019955cytokine binding ----
    GO:0042019contributes to interleukin-23 binding IPI12023369


    IL12RB1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Il12rb1tm1Jm for IL12RB1
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Il12rb1):
     hematopoietic system  homeostasis/metabolism  immune system 

    IL12RB1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune response IL-12-induced IFN-gamma production
    Immune response IL-12-induced IFN-gamma production1.00
    IL12-mediated signaling events0.33
    Immune response_IL-12-induced IFN-gamma production0.88
    2Akt Signaling
    Akt Signaling1.00
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    3Development_PDGF signaling via STATs and NF-kB
    Immune response_IL-23 signaling pathway0.44
    IL23-mediated signaling events0.15
    Immune response IL-23 signaling pathway0.41
    4Immune response IL-12 signaling pathway
    Immune response IL-12 signaling pathway1.00
    Immune response_IL-12 signaling pathway0.96
    5Immune response IL-22 signaling pathway
    Immune response IL-22 signaling pathway1.00
    Immune response_IL-22 signaling pathway0.87

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    4 EMD Millipore Pathways for IL12RB1
        Immune response IL-23 signaling pathway
    Immune response IL-12-induced IFN-gamma production
    Immune response IL-22 signaling pathway
    Immune response IL-12 signaling pathway

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

    5/8 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for IL12RB1 (see all 8)
        THC Differentiation Pathway
    STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    p38 Signaling

    5/6 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 
        IL23-mediated signaling events
    IL27-mediated signaling events
    IL12-mediated signaling events


    2         Kegg Pathways  (Kegg details for IL12RB1):
        Cytokine-cytokine receptor interaction
    Jak-STAT signaling pathway


    IL12RB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IL12RB1

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

    5/59 Interacting proteins for IL12RB1 (P427013 ENSP000003144254) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    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): 5/14 biological process terms (GO ID links to tree view) (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 ----


    IL12RB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IL12RB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for IL12RB1
    5 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about IL12RB1 / I12R1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IL12RB1 gene (2 alternative transcripts): 
    NM_005535.1  NM_153701.1  

    Unigene Cluster for IL12RB1:

    Interleukin 12 receptor, beta 1
    Hs.567294  [show with all ESTs]
    Unigene Representative Sequence: BX647221
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430026(uc002nhw.1 uc010xqb.1 uc002nhx.1) ENST00000322153(uc002nhy.3)


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    Additional cDNA 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 

    24/27 AceView cDNA sequences (see all 27):

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

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IL12RB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See IL12RB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IL12RB1

    SOURCE GeneReport for Unigene cluster: Hs.567294
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for IL12RB1 gene from 2/8 species (see all 8)    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 68.47(n)1
    56.53(a)1
      8 (34.21 cM)5
    161611  NM_008353.21  NP_032379.21 
     708084495 
    lizard
    (Anolis carolinensis)
    Reptilia IL12RB16
    --
    31(a)
    1 ↔ 1
    GL344866.1(3884-7819)


    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/754 NCBI SNPs in IL12RB1 are shown (see all 754    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs178785431,2
    C,F,H--18169980(-) ATGACG/AGTCCT 1 -- ds50015Minor allele frequency- A:0.00NS NA 410
    rs4047331,2
    C,F,A,H,--18169997(+) CACAAT/AGTTTA 1 -- ds500119Minor allele frequency- A:0.48EA MN NS NA CSA WA 2725
    rs1856662031,2
    --18170074(+) TGAGTA/CCAGAC 1 -- ds50010--------
    rs1172903751,2
    F,--18170177(+) CCAGAA/GCAGGT 1 -- ds50011Minor allele frequency- G:0.03EA 120
    rs1176124941,2
    --18170232(+) GGGTGC/TAGCAG 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs38332861,2
    C,F,--18170265(-) GGGGGG/-AACCC 1 -- ds50014Minor allele frequency- -:0.40NS NA CSA 86
    rs584955171,2
    C--18170266(+) CCCCGC/-CAGGA 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1469892351,2
    --18170292(+) CAGGCA/GCGGGG 1 -- ds50010--------
    rs37461901,2
    C,F,--18170384(-) TCGCCC/TGAGGC 1 -- ut3110Minor allele frequency- T:0.28NS NA WA EA EU 882
    rs1884155141,2
    C,F,--18170388(+) CGGGCG/AAGTCA 1 -- ut311Minor allele frequency- A:0.01EU 469

    HapMap Linkage Disequilibrium report for IL12RB1 (18170371 - 18197697 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for IL12RB1: --
    Human Gene Mutation Database (HGMD): IL12RB1

    Locus Specific Mutation Databases (LSDB): IL12RB1

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

    IL12RB1 for disorders           About GeneDecksing

    OMIM gene information: 601604   
    OMIM disorders: 209950  
    UniProtKB/Swiss-Prot: I12R1_HUMAN, P42701
  • Defects in IL12RB1 are a cause of Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]; also
  • known as familial disseminated atypical mycobacterial infection. 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

    20/68 diseases for IL12RB1 (see all 68):    About MalaCards
    mycobacterial and salmonella infections    mycobacterium avium complex disease    subacute sclerosing panencephalitis    mycobacterium fortuitum
    immunodeficiency    tropical spastic paraparesis    spastic paraparesis    mycobacterial infection
    common variable immunodeficiency    interleukin receptor    lepromatous leprosy    severe acute respiratory syndrome
    bcg infection    primary biliary cirrhosis    lupus erythematosus    nocardiosis
    sarcoidosis    systemic lupus erythematosus    allergic rhinitis    myocarditis

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

    10/23 Novoseek 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

    PubMed articles for IL12RB1 gene, integrated from 9 sources (see all 219):
    (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. (2005)
    2. Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus. (PubMed id 15941730)1, 4, 9 Sanchez E....Martin J. (2005)
    3. 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. (2003)
    4. Interleukin-12 receptor beta-1 deficiency in a patient with abdominal tuberculosis. (PubMed id 11424023)1, 2, 9 Altare F.... Casanova J.-L. (2001)
    5. 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. (1994)
    6. 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. (2003)
    7. 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. (2002)
    8. Assignment of IL12RB1 and IL12RB2, interleukin-12 receptor beta 1 and beta 2 chains, to human chromosome 19 band p13.1 and chromosome 1 band p31.2, respectively, by in situ hybridization. (PubMed id 9284929)1, 3, 9 Yamamoto K....Miyasaka N. (1997)
    9. A functional interleukin 12 receptor complex is composed of two beta- type cytokine receptor subunits. (PubMed id 8943050)1, 2, 9 Presky D.H.... Gubler U. (1996)
    10. Association between IFNA genotype and the risk of sarcoidosis. (PubMed id 15004750)1, 4, 9 Akahoshi M....Shirakawa T. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3594 HGNC: 5971 AceView: IL12RB1 Ensembl:ENSG00000096996 euGenes: HUgn3594
    ECgene: IL12RB1 Kegg: 3594 H-InvDB: IL12RB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/IL12RB1
    SeattleSNPshttp://pga.gs.washington.edu/data/il12rb1/

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

    GeneCards and IP:
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