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FLASH GENE
Symbol KIR3DL2 contributors: mct - updated : 28-06-2013
HGNC name killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
HGNC id 6339
Location 19q13.4      Physical location : 55.361.897 - 55.378.661
Synonym name
  • natural killer cell immunoglobulin-like inhibitory receptor for HLA-B antigens, 3DL2
  • KIR antigen 3DL2
  • natural killer associated transcript 4;
  • NK associated transcript 4
    • Synonym symbol(s) NKAT4, CD158K, CL-5, NKAT4A, NKAT4B, p140
    DNA
    TYPE functioning gene
    STRUCTURE 16.79 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    text with two alternatively spliced (truncated) forms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1885 70 455 - 1996 8617928
    NKAT4
    8 splicing 1834 - 438 - 1996 8617928
    NKAT4a
    - splicing 1355 - 455 - 1996 8617928
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immuneactivated B lymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two tyrosine based inhibitory motifs (ITIM)
  • a 21-amino acid signal peptide
  • an extracellular region containing three C2-type Ig-like domains with 3 potential N-linked glycosylation sites
  • a KIR3DL interaction site seem to be largely conserved across the KIR3D family, with specificity differences mapping to a hotspot within the interaction interface
  • a 20-amino acid hydrophobic transmembrane region
  • and a 95-amino acid cytoplasmic domain
    • mono polymer dimer
    HOMOLOGY
    Homologene
    FAMILY immunoglobulin superfamily
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • inhibiting the activity of NK cells thus preventing cell lysis
  • crucial role of KIR3DL2 in microbial CpG oligodeoxynucleotide-mediated NK responses
  • three domain killer cell immunoglobulin-like receptor incorporating cytoplasmic immunoreceptor tyrosine inhibitory motifs, expressed as a disulphide-bonded dimer
  • KIR3DL2-expressing natural killer (NK) cells and IL17 secreting CD4 T cells have been implicated in the pathogenesis of ankylosing spondylitis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • natural killer cell receptor cluster FLNKR@
  • disulfide-linked dimer
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with certain HLA-A molecules
  • KIR3DL2 binds to HLA-B27 dimers and free H chains more strongly than other HLA class I
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autism spectrum disorder
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS