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IL12RB2 Gene

protein-coding   GIFtS: 64
GCID: GC01P067773

Interleukin 12 Receptor, Beta 2

Pneumococci & Pneumococcal 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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Interleukin 12 Receptor, Beta 21 2     Interleukin-12 Receptor Subunit Beta-22
IL-12 Receptor Subunit Beta-22 3     IL-12R-beta-23
IL-12R Subunit Beta-22 3     IL-12RB23
Interleukin-12 Receptor Beta-2 Chain2     

External Ids:    HGNC: 59721   Entrez Gene: 35952   Ensembl: ENSG000000819857   OMIM: 6016425   UniProtKB: Q996653   
ORGUL members:         

Export aliases for IL12RB2 gene to outside databases

Previous GC identifers: GC01P067733 GC01P066704 GC01P067130 GC01P067142 GC01P067485 GC01P067545 GC01P065882


(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 IL12RB2 Gene:
The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12
receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of
high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is
up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of
this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy,
which is thought to contribute to the inflammatory response and host defense. Several transcript variants
encoding different isoforms and non-protein coding transcripts have been found for this gene. (provided by
RefSeq, Apr 2012)

GeneCards Summary for IL12RB2 Gene:
IL12RB2 (interleukin 12 receptor, beta 2) is a protein-coding gene. Diseases associated with IL12RB2 include crohn's disease, and leprosy. GO annotations related to this gene include cytokine receptor activity and protein kinase binding. An important paralog of this gene is OSMR.

UniProtKB/Swiss-Prot: I12R2_HUMAN, Q99665
Function: Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway.
Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1
phenotype by strongly enhancing IFN-gamma production

Gene Wiki entry for IL12RB2 (Interleukin 12 receptor, beta 2 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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IL12RB2 gene promoter:
         STAT5B   STAT1   STAT4   STAT6   STAT1beta   STAT5A   STAT1alpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIL12RB2 promoter sequence
   Search Chromatin IP Primers for IL12RB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IL12RB2


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

Entrez Gene cytogenetic band: 1p31.3-p31.2   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31.3-p31.2

IL12RB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL12RB2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P067773:  view genomic region     (about GC identifiers)

Start:
67,773,047 bp from pter      End:
67,862,583 bp from pter
Size:
89,537 bases      Orientation:
plus 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: I12R2_HUMAN, Q99665 (See protein sequence)
Recommended Name: Interleukin-12 receptor subunit beta-2 precursor  
Size: 862 amino acids; 97135 Da
Subunit: Heterodimer/heterooligomer; disulfide-linked. The functional high affinity IL12 receptor is composed of
I12RB1 and IL12RB2. Il12RB2 binds JAK2 (via its N-terminal) through a membrane-proximal region of the cytoplasmic
domain. Interaction, in vitro and in vivo, with SOCS3 (via its SH2 domain) inhibits the STAT4-mediated
activation. Binds STAT4 through a membrane-distal C-terminal region
Developmental stage: Maximum levels in Th1 cells between day 3 and day 8 of activation
Secondary accessions: B1AN98 B7ZKL9 F5H7L6 Q2M3V3
Alternative splicing: 3 isoforms:  Q99665-1   Q99665-2   Q99665-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IL12RB2: NX_Q99665

Explore proteomics data for IL12RB2 at MOPED

Post-translational modifications: 

  • On IL12 binding, phosphorylated on C-terminal tyrosine residues by JAK2. Phosphorylation on Tyr-800 is required
    for STAT4 binding and activation, and for SOCS3 binding1
  • Glycosylation2 at Asn48, Asn129, Asn166, Asn195, Asn271, Asn347, Asn376, Asn480
  • Modification sites at PhosphoSitePlus

  • See IL12RB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001245143.1  NP_001245144.1  NP_001245145.1  NP_001550.1  

    ENSEMBL proteins: 
     ENSP00000262345   ENSP00000400959   ENSP00000442443   ENSP00000360039   ENSP00000445276  

    IL12RB2 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for IL12RB2
    Sino Biological Cell Lysate for IL12RB2
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    Browse Proteins at Cloud-Clone Corp.

    IL12RB2 Antibody Products:

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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
    IL: Interleukins and interleukin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Interleukin-12 receptor, beta2 subunit
    IL-12 receptor family

    5 InterPro protein domains:
     IPR015321 IL-6_rcpt_alpha-bd
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR010457 IgC2-like_lig-bd
     IPR003529 Hematopoietin_rcpt_Gp130_CS

    Graphical View of Domain Structure for InterPro Entry Q99665

    ProtoNet protein and cluster: Q99665

    2 Blocks protein domains:
    IPB003529 Long hematopoietin receptor
    IPB010457 Ig-like C2-type


    UniProtKB/Swiss-Prot: I12R2_HUMAN, Q99665
    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


    IL12RB2 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: I12R2_HUMAN, Q99665
    Function: Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway.
    Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1
    phenotype by strongly enhancing IFN-gamma production
    Induction: In vitro, up-regulated by IFN-alpha

         Genatlas biochemistry entry for IL12RB2:
    interleukin 12 receptor,subunit B2,low affinity,132kDa,heterodimerizing with IL12RB1,expressed on Th1 cells

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004896cytokine receptor activity TAS8943050
    GO:0005515protein binding ----
    GO:0019901protein kinase binding IEA--
         
    IL12RB2 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Il12rb2):
     cardiovascular system  digestive/alimentary  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  renal/urinary system  tumorigenesis 

    IL12RB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Il12rb2tm1Jm for IL12RB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IL12RB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IL12RB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IL12RB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IL12RB2

    miRNA
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    miRTarBase miRNAs that target IL12RB2:
    hsa-mir-7-5p (MIRT025732), hsa-mir-625-5p (MIRT039597)

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    5 qRT-PCR Assays for microRNAs that regulate IL12RB2:
    hsa-miR-2052 hsa-miR-204 hsa-miR-4309 hsa-miR-211 hsa-miR-4294
    SwitchGear 3'UTR luciferase reporter plasmidIL12RB2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat IL12RB2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL12RB2


    (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
    I12R2_HUMAN, Q99665: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS8943050
    GO:0009897external side of plasma membrane IEA--

    IL12RB2 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 IL12RB2 About   (see all 12)  
    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
    3IL12-mediated signaling events
    Immune response IL 12 induced IFN gamma production0.33
    IL12-mediated signaling events0.33
    4Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    5TGF-Beta Pathway
    MAPK Family Pathway0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for IL12RB2
        Th1 Differentiation

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for IL12RB2 (see all 8)
        THC Differentiation Pathway
    STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    p38 Signaling

    3 GeneGo (Thomson Reuters) Pathways for IL12RB2
        Immune response IL-12 signaling pathway
    Immune response IL-22 signaling pathway
    Immune response IL-12-induced IFN-gamma production

    2 BioSystems Pathways for IL12RB2
        IL27-mediated signaling events
    IL12-mediated signaling events



    3 Kegg Pathways  (Kegg details for IL12RB2):
        Cytokine-cytokine receptor interaction
    Jak-STAT signaling pathway
    Inflammatory bowel disease (IBD)


    IL12RB2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL12RB2 (see all 6): 
              Th17 Response in human mouse rat
              Interferons & Receptors in human mouse rat
              Th1/Th2 Response in human mouse rat
              T Helper Cell Differentiation in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IL12RB2

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

    Selected Interacting proteins for IL12RB2 (Q996652, 3 ENSP000002623454) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STAT4Q147652, 3, ENSP000003512554MINT-8033462 MINT-8033447 I2D: score=4 STRING: ENSP00000351255
    SOCS3O145432, 3, ENSP000003303414MINT-8033477 I2D: score=1 STRING: ENSP00000330341
    IL12RB1P427013, ENSP000003144254I2D: score=2 STRING: ENSP00000314425
    GAKO149763, ENSP000003144994I2D: score=1 STRING: ENSP00000314499
    IL12BP294603, ENSP000002312284I2D: score=1 STRING: ENSP00000231228
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007166cell surface receptor signaling pathway TAS8943050
    GO:0008284positive regulation of cell proliferation TAS8943050
    GO:0018108peptidyl-tyrosine phosphorylation IEA--
    GO:0019221cytokine-mediated signaling pathway TAS8943050
    GO:0032496response to lipopolysaccharide IEA--

    IL12RB2 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 IL12RB2 (I12R2)

    1 Novoseek inferred chemical compound relationship for IL12RB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 7.44 3 10198225 (1), 11120856 (1)



    IL12RB2 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 IL12RB2 gene (4 alternative transcripts): 
    NM_001258214.1  NM_001258215.1  NM_001258216.1  NM_001559.2  

    Unigene Cluster for IL12RB2:

    Interleukin 12 receptor, beta 2
    Hs.479347  [show with all ESTs]
    Unigene Representative Sequence: NR_047584
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262345(uc001ddu.3 uc010oqk.2 uc010oql.2 uc010oqn.2)
    ENST00000441640 ENST00000465396 ENST00000544434 ENST00000371000(uc010oqi.2 uc010oqj.2 uc010oqm.2)
    ENST00000541374

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    SwitchGear 3'UTR luciferase reporter plasmidIL12RB2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: IL12RB2 (NM_001559)
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      QuantiTect SYBR Green Assays in human, mouse, rat IL12RB2
      QuantiFast Probe-based Assays in human, mouse, rat IL12RB2

    Additional mRNA sequence: 

    AK294494.1 AK300020.1 AK310837.1 AK316525.1 BC104772.1 BC104774.1 BC143248.1 BC143249.1 
    BC143250.1 BC143252.1 NR_047583.1 NR_047584.1 U64198.1 

    2 DOTS entries:

    DT.406060  DT.121354211 

    13 AceView cDNA sequences:

    NM_001559 BX100275 BG203914 AI948843 U64198 BU953711 AA977194 AW170646 
    AA984228 AW168379 AW794508 BE464121 AW794868 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IL12RB2 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b · 17c
    SP1:              -                                                           -                                   -                                       
    SP2:                                                                                                                                                      
    SP3:                                                                                                              -                 -                     
    SP4:                                                                                                                                                      
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for IL12RB2

    (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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    IL12RB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IL12RB2 Expression
    About this image


    IL12RB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)
             Alveolar type II cells
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
    IL12RB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IL12RB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.479347

    UniProtKB/Swiss-Prot: I12R2_HUMAN, Q99665
    Tissue specificity: Isoform 2 is expressed at similar levels in both naive and activated T-cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL12RB2 (see all 6): 
              Th17 Response in human mouse rat
              Interferons & Receptors in human mouse rat
              Th1/Th2 Response in human mouse rat
              T Helper Cell Differentiation in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for IL12RB2
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    QuantiTect SYBR Green Assays in human, mouse, rat IL12RB2
    QuantiFast Probe-based Assays in human, mouse, rat IL12RB2
    In Situ
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    (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 IL12RB2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Il12rb21 , 5 interleukin 12 receptor, beta 21, 5 76.7(n)1
    67.68(a)1
      6 (30.81 cM)5
    161621  NM_008354.31  NP_032380.11 
     672913185 
    chicken
    (Gallus gallus)
    Aves IL12RB21 interleukin 12 receptor, beta 2 53.8(n)
    38.59(a)
      424705  NM_001277627.1  NP_001264556.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    21(a)
    many ↔ many
    AAWZ02039210(3284-8959)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia il12rb21 interleukin 12 receptor, beta 2 49.09(n)
    33.48(a)
      101732940  XM_004914317.1  XP_004914374.1 
    zebrafish
    (Danio rerio)
    Actinopterygii il12rb21 interleukin 12 receptor, beta 2a 45.34(n)
    33.57(a)
      100134971  NM_001113505.1  NP_001106977.1 


    ENSEMBL Gene Tree for IL12RB2 (if available)
    TreeFam Gene Tree for IL12RB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IL12RB2 gene
    OSMR2  IL6ST2  CSF3R2  IL31RA2  LIFR2  

    IL12RB2 for paralogs           About GeneDecksing



    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    I12R2_HUMAN, Q99665: Heterozygotic variants Gly-313 and Arg-720 are associated with atopy, an immunological condition
    that can lead to clinical symptoms such as allergic rhinitis, sinusitis, asthma and eczema


    Selected SNPs for IL12RB2 (see all 2019)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs667267681,2
    C--65905879(+) TTTTT-/A/AAAA
            
    AAAAA
    6 -- int10--------
    rs709579961,2
    C--65957317(-) TTTTT-/T/TTT 
            
    GAGAC
    10 -- int1 cds11NA 2
    rs171098411,2
    C,F--67771998(+) TTTTT-/TGTAAA 6 -- us2k13Minor allele frequency- T:0.14NS CSA 94
    rs38347641,2
    C--67772388(+) GGGGGG/-ACTTA 6 -- us2k11Minor allele frequency- -:0.00NA 2
    rs57748651,2
    C--67773779(+) CTCTT-/TATATAT 6 -- int10--------
    rs57748661,2
    C--67781279(+) aaaaaA/-taata 6 -- int1 trp32Minor allele frequency- -:0.01NS 90
    rs171297581,2
    C,F--67781635(+) GTATAT/-TTTAA 6 -- int12Minor allele frequency- -:0.23NS 88
    rs710624101,2
    C--67782104(-) CATTA-/AC/   
      ACACAC
    ACACA
    10 -- int1 cds11NA 2
    rs719454451,2
    C--67787765(+) CAAGT-/TCCTCTC 6 -- int10--------
    rs30630881,2
    C--67788354(+) AAGAAAGAA/-  
            
    GAACT
    6 -- int1 trp32Minor allele frequency- -:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for IL12RB2 (67773047 - 67862583 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for IL12RB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661290CNV Deletion23128226
    nsv1254CNV Insertion18451855
    nsv461773CNV Loss19166990
    nsv871879CNV Loss21882294
    nsv871374CNV Loss21882294
    dgv236n71CNV Loss21882294
    nsv870652CNV Loss21882294
    nsv482980CNV Loss15286789
    nsv10228CNV Gain18304495
    nsv871075CNV Gain21882294

    Human Gene Mutation Database (HGMD): IL12RB2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IL12RB2
    DNA2.0 Custom Variant and Variant Library Synthesis for IL12RB2

    (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.)
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    OMIM gene information: 601642    OMIM disorders: --

    Selected diseases for IL12RB2 (see all 49):    
    About MalaCards
    crohn's disease    leprosy    behcet's disease    lepromatous leprosy
    paracoccidioidomycosis    mumps    atopy    pemphigus vulgaris
    tropical spastic paraparesis    spastic paraparesis    rubella    primary biliary cirrhosis
    pemphigus    smallpox    cblc    sarcoidosis
    hematopoietic stem cell transplantation    burkitt's lymphoma    pulmonary tuberculosis    measles


    IL12RB2 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 IL12RB2 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    asthma allergic 33.5 3 11277617 (2), 12719941 (1)
    burkitt lymphoma 23.2 1 11940489 (1)
    sarcoidosis 22.2 2 15004750 (1)
    atopy 16.8 1 11529887 (1)
    autoimmunity 14.6 2 16081683 (2)
    lymphoproliferative disorders 13.1 1 15173892 (1)
    colitis 8.51 3 11120856 (2), 10880525 (1)
    lymphoma 3.61 1 19359411 (1)
    asthma 0 2 12719941 (1)
    hiv infections 0 1 10419892 (1)

    Genetic Association Database (GAD): IL12RB2
    Human Genome Epidemiology (HuGE) Navigator: IL12RB2 (41 documents)

    Export disorders for IL12RB2 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)
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    PubMed articles for IL12RB2 gene, integrated from 10 sources (see all 150):
    (articles sorted by number of sources associating them with IL12RB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A functional interleukin 12 receptor complex is composed of two beta- type cytokine receptor subunits. (PubMed id 8943050)1, 2, 3 Presky D.H.... Gubler U. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    2. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. (PubMed id 19458352)1, 4, 9 Hirschfield G.M....Siminovitch K.A. (N. Engl. J. Med. 2009)
    3. SOCS-3 inhibits IL-12-induced STAT4 activation by binding through its SH2 domain to the STAT4 docking site in the IL-12 receptor beta2 subunit. (PubMed id 14559241)1, 2, 9 Yamamoto K.... Miura O. (Biochem. Biophys. Res. Commun. 2003)
    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. Physical interaction between interleukin-12 receptor beta 2 subunit and Jak2 tyrosine kinase: Jak2 associates with cytoplasmic membrane- proximal region of interleukin-12 receptor beta 2 via amino- terminus. (PubMed id 10198225)1, 2, 9 Yamamoto K....Miyasaka N. (Biochem. Biophys. Res. Commun. 1999)
    6. A novel polymorphic GATA site in the human IL-12Rbeta2 promoter region affects transcriptional activity. (PubMed id 15140029)1, 4, 9 van Rietschoten J.G....Wierenga E.A. (Tissue Antigens 2004)
    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. 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. (Cytogenet. Cell Genet. 1997)
    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. Polymorphisms in the 5' flanking region of IL12RB2 are associated with susceptibility to periodontal diseases in the Japanese population. (PubMed id 18353079)1, 4, 9 Takeuchi-Hatanaka K....Takashiba S. (J. Clin. Periodontol. 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: 3595 HGNC: 5972 AceView: IL12RB2 Ensembl:ENSG00000081985 euGenes: HUgn3595
    ECgene: IL12RB2 Kegg: 3595 H-InvDB: IL12RB2

    (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)
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    NameDescription
    PharmGKB entry for IL12RB2 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/il12rb2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IL12RB2 gene:
    Search GeneIP for patents involving IL12RB2

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



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