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FLASH GENE
Symbol KIR2DL2 contributors: mct/npt - updated : 30-04-2010
HGNC name killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
HGNC id 6330
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two immunoglobulin-like C2-type extracellular domains
  • a long cytoplasmic tail
  • two immunoreceptor tyrosine based inhibitory motifs (ITIM)
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • CATEGORY immunity/defense , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I membrane protein
    basic FUNCTION
  • inhibiting the activity of NK cells thus preventing cell lysis
  • as other KIR genes, suppressed by DNA methylation in most T cells, and DNA demethylation promotes their expression through effects on both chromatin structure and transcription factors (Liu 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to systemic sclerosis (SSc)
  • to type 1 diabetes
  • Variant & Polymorphism other
  • association of the combination KIR2DS2(+)/KIR2DL2(-) with increased risk for SSc (Salim 2010)
  • potential role of the KIR2DL2-rs2756923 polymorphism in T1D in Germans and Belgians (Ramos-Lopez 2009)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS