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FLASH GENE
Symbol CD48 contributors: mct/pgu - updated : 16-07-2010
HGNC name CD48 molecule
HGNC id 1683
Location 1q23.3      Physical location : 160.648.537 - 160.681.585
Synonym name
  • cell differentiation antigen CD48, ?41kDa, identified by monoclonal antibodies WM68, LO-MN25, J4-57, Tü145, WM63, K31
  • B-cell activation marker 1 (glycosyl-phosphatidylinositol (GPI) anchored membrane protein)
  • CD48 antigen (B-cell membrane protein)
  • B-lymphocyte activation marker BLAST-1
  • leukocyte antigen MEM-102
  • BCM1 surface antigen
    • Synonym symbol(s) BCM1, BLAST1, BLAST, MEM-102, SLAMF2, hCD48, mCD48
    DNA
    TYPE functioning gene
    STRUCTURE 33.05 kb     4 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1099 - 243 - 1999 10359122
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     thymus   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticplasma    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunenatural killer
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a Ig-like C2-type (immunoglobulin-like) domain
  • a Ig-like V-type (immunoglobulin-like) domain
    • conjugated GlycoP , LipoP
    HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • SLAM family
    • CATEGORY immunity/defense , antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
    text attached to the membrane by a GPI-anchor
    basic FUNCTION
  • may be involved in regulating T-cell activation
  • ligand for CD2
  • might facilitate interaction between activated lymphocytes
  • cooperating with CD2 in the buildup of the early TCR signalosome and shuttling the transmembrane adapter membrane LAT
  • induces numerous effects in B and T lymphocytes, natural killer cells, mast cells, and eosinophils
  • SLAMF1, CD48, CD84, CD244, LY9, SLAMF6, SLAMF7 play an essential and non-redundant role in the control of humoral immune responses
  • plays a vital role as an environmental sensor for regulating hematopoietic cells and progenitor cell numbers and inhibiting tumor development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to 2B4
  • binds CD2 and other molecules
    • cell & other
    REGULATION
    Other its expression is regulated by viral and bacterial products and immune-associated proteins
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility may have a role in the susceptibility to EBV infection in patients with mutation in XPLD disease gene
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS