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FLASH GENE
Symbol KIR2DL4 contributors: mct - updated : 05-12-2019
HGNC name killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
HGNC id 6332
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 splicing 1505 37.3 342 - 2017 28445138
also called AS
8 - 1609 - 273 - 2017 28445138
8 splicing 1338 34.1 310 - 2017 28445138
also called ASD2
8 splicing 1610 41.5 377 - 2017 28445138
also called LP
6 splicing 1158 26.5 245 - 2017 28445138
also called AST
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immuneactivated B lymphocyte
Lymphoid/Immunenatural killer Homo sapiens
Lymphoid/ImmuneT cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 24-amino acid leader sequence
  • a 218-amino acid extracellular domain containing 2 putative immunoglobulin-like C2-type domains
  • a 20-amino acid transmembrane domain
  • a 114-residue cytoplasmic tail
  • one immunoreceptor tyrosine based inhibitory motif (ITIM)
  • both activating and inhibitory signaling domains
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • CATEGORY immunity/defense , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    text type I membrane protein
    basic FUNCTION
  • inhibiting the activity of NK cells thus preventing cell lysis or activating the cytotoxicity of NK cells
  • can stimulate potent cytokine production and weak cytolytic activity in resting NK cells (Miah 2008)
  • functions as an activating receptor, although it also has the potential to function as an inhibitory receptor (Li 2009)
  • 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 senescence induced by KIR2DL4 reprograms natural killer cells to promote vascular remodeling
  • unique functional properties of KIR2DL4 may be likely mediated by self-association of the receptor
  • possible involvement of human mast cells in the establishment of pregnancy via KIR2DL4 and long-term corticosteroid treatment may cause infertility by influencing the phenotypes of decidual mast cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RNF216 is a key negative regulator of sustained KIR2DL4-mediated NFKB1 signaling from internalized KIR2DL4, which functions by promoting ubiquitylation and degradation of endocytosed receptor from early endosomes
  • HLA-G ligand KIR2DL4, is mainly expressed on NK cells and CD56+ T cells with no differences between CMV+ and CMV- subjects
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    is correlated with the susceptibility of pre-eclampsia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS