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FLASH GENE
Symbol CLEC2D contributors: mct - updated : 07-05-2011
HGNC name C-type lectin domain family 2, member D
HGNC id 14351
Location 12p13.31      Physical location : 9.822.308 - 9.852.039
Synonym name
  • lectin-like transcript 1
  • killer cell lectin-like receptor, subfamily C member 5
  • C-type lectin related f
  • osteoclast inhibitory lectin
  • Synonym symbol(s) KLRC5, LLT1, CLAX, OCIL
    DNA
    TYPE functioning gene
    STRUCTURE 29.73 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text
  • multiple alternatively spliced transcripts co-expressed in the same cell types and induced upon the same signals of activation (PMID: 20843815 )
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 5167 - 191 - 2010 20843815
  • LLT1 variant 1
  • bind to KLRB1
  • 5 splicing 5249 - 194 - 2010 20843815
  • remained in the endoplasmic reticulum, forming homodimers or heterodimers with LLT1
  • variant 2
  • possess C-type lectin-like domains between amino acids 75 and 185 and between amino acids 75–192, respectively
  • do not bind to KLRB1
  • 4 splicing 5176 - 132 - 2010 20843815
  • remained in the endoplasmic reticulum, forming homodimers or heterodimers with LLT1
  • composed of exons 1, 2, 3, and 5
  • variant 4
  • has lost C-type lectin-like domains
  • do not bind to KLRB1
  • 4 splicing 5146 - 154 - 2010 20843815
    variant 5
    3 splicing 5042 - 51 - 2010 20843815
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell
    Lymphoid/Immunedendritic cell Homo sapiens
    Lymphoid/Immunenatural killer Homo sapiens
    Lymphoid/ImmuneT cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • transmembrane domain near the N terminus
  • an extracellular domain similar to the carbohydrate recognition domain of C type lectin but without an intracellular ITIM, immunoreceptor, tyrosine based inhibitory motif
  • HOMOLOGY
    Homologene
    FAMILY
  • natural killer cell C-type lectins family
  • KLR family member
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • involved in mediating activation signals
  • novel regulator of bone remodeling
  • physiological negative regulator of bone
  • CLEC2D-stimulated IFN-gamma production in NK cells may involve post-transcriptional or translational events (
  • role for CLEC2D/KLRB1 in modulating immune responses to pathogens
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand for the NK cell inhibitory receptor, NKR-P1A (KLRB1)
  • ligand of KLRB1, found to be expressed on Toll-like receptor (TLR)-activated plasmacytoid and monocyte-derived dendritic cells (DC) and on activated B cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to reduction of bone mineral density in postmenopausal women
    Variant & Polymorphism other
  • women with a lysine (GG genotype) at position 19 displayed lower BMD at femoral neck and at lumbar spine sites than women having an asparagine residue
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS