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

IL12RB1 Gene

protein-coding   GIFtS: 63
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)
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
IL-12 Receptor Beta Component2 3     IL-12R-beta-13
IL-12 Receptor Subunit Beta-12 3     IL-12RB13
IL-12R Subunit Beta-12 3     IL12R3
CD2122     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 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. 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)

GeneCards Summary for IL12RB1 Gene: 
IL12RB1 (interleukin 12 receptor, beta 1) is a protein-coding gene. Diseases associated with IL12RB1 include myocarditis, and salmonellosis, and among its related super-pathways are STAT3 Pathway and Th1 Differentiation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
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:
18,169,805 bp from pter      End:
18,209,759 bp from pter
Size:
39,955 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for IL12RB1 at MOPED 

Post-translational modifications:

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

  • IL12RB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IL12RB1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005526.1  NP_714912.1  

    ENSEMBL proteins: 
     ENSP00000470788   ENSP00000472165   ENSP00000314425   ENSP00000468831   ENSP00000473051  
     ENSP00000403103  

    Human Recombinant Protein Products for IL12RB1: 
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    Sino Biological Recombinant Protein for IL12RB1
    Sino Biological Cell Lysate for IL12RB1 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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 IEA--
    GO:0042022interleukin-12 receptor complex IDA12023369
    GO:0072536interleukin-23 receptor complex IDA12023369

    IL12RB1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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, β1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for IL12RB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for IL12RB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IL12RB1 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    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
    2IL27-mediated signaling events
    IL27-mediated signaling events0.38
    Th1 Differentiation0.38
    3Development PDGF signaling via STATs and NF-kB
    Immune response IL-23 signaling pathway0.91
    IL23-mediated signaling events0.38
    4Immune response IL-12-induced IFN-gamma production
    Immune response IL-12-induced IFN-gamma production0.88
    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

    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
    IL12-mediated signaling events
    IL27-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

    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 IEA--

    IL12RB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (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)

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

    (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,
    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, Sirion Biotech, 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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000600835 ENST00000593993 ENST00000322153(uc002nhy.3) ENST00000598019
    ENST00000594176 ENST00000597416 ENST00000430026(uc002nhw.1 uc010xqb.1 uc002nhx.1)

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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 

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

    AA917405 BX281700 CA306262 AA353168 NM_005535 U03187 BM920883 NM_153701 
    BQ027636 BC029121 BE244068 AA311943 CA306092 AV764573 BQ059098 BX647221 
    BI911318 BI761918 AI637915 BQ213225 BI908302 CA308107 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 <intensity>2/3
    CGAP TAG: --
    IL12RB1 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
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    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 3/9 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 68.47(n)1
    56.53(a)1
      8 (34.21 cM)5
    161611  NM_008353.21  NP_032379.21 
     708084495 
    chicken
    (Gallus gallus)
    Aves IL12RB16
    interleukin 12 receptor, beta 1
    25(a)
    1 ↔ 1
    28(3800995-3805633)
    lizard
    (Anolis carolinensis)
    Reptilia IL12RB16
    Uncharacterized protein
    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)
    About This Section
      --

    (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) 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

    10/970 SNPs in IL12RB1 are shown (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 - 18209759 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
    SABiosciences Cancer Mutation 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
    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

  • 20/67 diseases for IL12RB1 (see all 67):    About MalaCards
    myocarditis    salmonellosis    nocardiosis    primary biliary cirrhosis
    abdominal tuberculosis    mycobacterial and salmonella infections    mycobacterium fortuitum    mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency
    mycobacterium avium complex disease    familial atypical mycobacteriosis, il12rb1-related    autoimmune myocarditis    lepromatous leprosy
    klebsiella    subacute sclerosing panencephalitis    tuberculosis    pulmonary tuberculosis
    sarcoidosis    leprosy    pulmonary sarcoidosis    severe acute respiratory syndrome

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

    IL12RB1 for disorders           About GeneDecksing

    10/23 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

    PubMed articles for IL12RB1 gene, integrated from 9 sources (see all 222):
    (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. 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. (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 Sanchez E....Martin J. (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. (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. (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. (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. (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. (2002)
    9. Polymorphisms in genes of interleukin 12 and its rece ptors 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. (2010)
    10. Interleukin-12 Receptor beta1 Polymorphisms and Nontuberculous Mycobacterial Lung Diseases. (PubMed id 18493823)1, 4, 9 Park H.Y....Koh W.J. (2008)

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

      Query String
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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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