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FLASH GENE
Symbol KIR2DS2 contributors: mct/npt - updated : 30-04-2010
HGNC name killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
HGNC id 6334
Location 19q13.4      Physical location : 131.448 - 145.745
Synonym name
  • natural killer cell immunoglobulin-like activating receptor for HLA-C antigens, 2DS2
  • associated transcript 5
  • CD158 antigen-like family member J
  • MHC class I NK cell receptor
  • NK receptor 183 ActI
  • p58 natural killer cell receptor clone CL-49
  • p58 killer cell inhibitory receptor KIR-K7a
    • Synonym symbol(s) NKAT5, p50.2, CD158J, 183ACTI, K2S2, cl-49, NKAT5, CD158J, MGC120018, MGC120020, MGC149477, MGC149478
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text natural killer cell receptor cluster FLNKR@
    STRUCTURE 14.30 kb     8 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text alternatively spliced (truncated) forms,NKAT5 del Ig1,Ig1/Ig2 (Dohring 1996)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 1559 - 304 - Dohring (1996)
    - splicing 1123 - 204 - Dohring (1996)
    also called NKAT5 delta Ig1
    - splicing 1129 - 206 - Dohring (1996)
    also called NKAT5 deltaIg1/Ig2
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two Ig extracellular domains
  • a short cytoplasmic tail
    • HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • natural killer cell receptors family
    • CATEGORY immunity/defense , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type 1 membrane protein
    basic FUNCTION
  • may be functioning as a receptor for class I molecules on NK cells
  • may be activating NK cell activity
    • 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 systemic lupus erythematosus (Pellett 2007)
    • Variant & Polymorphism other association of the combination KIR2DS2(+)/KIR2DL2(-) with increased risk for SSc (Salim 2010)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS