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FLASH GENE
Symbol IL12RB1 contributors: mct - updated : 05-09-2017
HGNC name interleukin 12 receptor, beta 1
HGNC id 5971
Corresponding disease
IL12RB1D interleukin 12 receptor, beta 1 deficiency
Location 19p13.1      Physical location : 18.170.370 - 18.197.697
Synonym symbol(s) CD212, IMD30, IL12RB, IL-12R-BETA1
DNA
TYPE functioning gene
STRUCTURE 40.03 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
UNC13A 19p13.12 unc-13 homolog A (C. elegans) VCY2IP1 19p13.12 VCY2 interacting protein 1 KIAA0290 B3GNT3 19p13.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 INSL3 19p13.1-p12 insulin-like 3 (Leydig cell) JAK3 19p13.1 Janus kinase 3 (a protein tyrosine kinase, leukocyte) RPL18A 19p13 ribosomal protein L18a SLC5A5 19p13.2-p12 solute carrier family 5 (sodium iodide symporter), member 5 LOC115098 19p13.12 hypothetical protein BC013949 KCNN1 19p13.1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 CLONE24945 LOC284438 19p13.12 similar to Citrate synthase, mitochondrial precursor LOC126358 19p13.12 similar to apolipoprotein A-I binding protein; apoA-I binding protein LOC390897 19 similar to ribosomal protein S18 IL12RB1 19p13.1 interleukin 12 receptor, beta 1 KIAA0561 PIK3R2 19q13.2-q13.4 phosphoinositide-3-kinase, regulatory subunit, polypeptide 2 (p85 beta) IFI30 19p13.1 interferon, gamma-inducible protein 30 MGC12972 19p13.11 hypothetical protein MGC12972 RAB3A 19p13.1 RAB3A, member RAS oncogene family PDE4C 19P13.1 phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila) LOC388516 19 LOC388516 KIAA1683 19p13.1 KIAA1683 JUND 19p13.1 jun D proto-oncogene LSM4 19p13.1 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) PGPEP1 19p13.11 pyroglutamyl-peptidase I PLAB MGC10812 19p13.11 hypothetical protein MGC10812 LOC388517 19 similar to MOST-1 protein MAPA 19p13.11 monocyte and plasmacytoid activated molecule SSBP4 19p13.1 single stranded DNA binding protein 4 ISYNA1 19p13.11 myo-inositol 1-phosphate synthase A1 DKFZp434I1916 ELL 19p13.1 elongation factor RNA polymerase II
RNA
TRANSCRIPTS type messenger
text four isoforms
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 2787 - 660 - -
17 - 2800 - 662 - -
10 - 1997 - 381 - -
- - 2791 - 702 - -
- - - - - expression of IL12Rbeta1DeltaTM occurs in CD11c(+) cells in the lungs during M. tuberculosis infection 2010 20212068
  • contains an altered C-terminal sequence and lacks a transmembrane domain
  • augments IL12RB1-dependent Dendritic cells migration and activation of M. tuberculosis-specific T cells
  • represents a novel positive-regulator of IL12RB1-dependent DC function and of the immune response to M. tuberculosis
  • EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Lymphoid/Immuneactivated B lymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five FBN type III extracellular motifs
  • cytokine-receptor-like modules
  • conserved WSXWS motifs
  • a large cytoplasmic tail containing three tyrosine residues
  • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • cytokine family of receptors
  • hemopoietin receptor superfamily
  • CATEGORY signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I integral transmembrane protein
    basic FUNCTION
  • coordinately regulating IFN-gamma production with antimicrobial humoral response
  • IL12RB1- and STAT3--dependent signals play likely a key role in the differentiation and/or expansion of human IL17-producing T cell populations
  • role of IL12RB1 and IL12RB2 for the expression of inducible nitric oxide synthase (iNOS) and production of NO in microglia that may participate in the pathogenesis of neuroinflammatory diseases
  • is essential for human resistance to multiple intracellular pathogens, including Mycobacterium tuberculosis
  • leukocytes primarily express IL12RB1 in an intracellular form located away from extracellular cytokine
  • in addition to promoting delayed type hypersensitivity (DTH), IL12RB1 also promotes autoimmunity
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS immunity/defense
    text
  • positive control
  • PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with IL12RB2
  • type I transmembrane receptor that is an essential component of the IL12- and IL23-signaling complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • pairing with IL23R to form the receptor for IL23A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IL12RB1D
    related resource IL12RB1base: Mutation registry for Interleukin-12 receptor 1 deficiency
    Susceptibility
  • to tuberculosis infection
  • to atopic dermatitis
  • Variant & Polymorphism SNP
  • influencing the course of tuberculosis infection
  • polymorphisms -111A/T and -2C/T were significantly associated with an increased risk of atopic dermatitis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS