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FLASH GENE
Symbol MS4A1 contributors: - updated : 05-09-2007
HGNC name membrane-spanning 4-domains, subfamily A, member 1
HGNC id 7315
Corresponding disease
CVID5 common variable immunodeficiency 5
Location 11q12.2      Physical location : 60.223.281 - 60.238.224
Synonym name
  • B-lymphocyte cell-surface antigen B1
  • CD20 antigen
  • B-lymphocyte antigen CD20
  • membrane-spanning 4-domains, subfamily A, member 2
  • leukocyte surface antigen Leu-16
  • Synonym symbol(s) B1CD20, B1, Bp35, MS4A2, CD20, LEU-16, MGC3969, S7
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 14.94 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    MAPPING cloned Y linked Y status confirmed
    Map see SEA
    RNA
    TRANSCRIPTS type messenger
    text two transcripts encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3331 - 297 - -
    8 - 3594 - 297 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestivepharynx   highly
    Lymphoid/Immunelymph node   highly
     spleen   highly
     thymus   highly
    Nervousbrain   lowly
    Reproductivemale systemtestis  lowly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Connective    
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
     mast cell
    Lymphoid/ImmuneB cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a short intracellular domain
  • four transmembrane segments (4TM)
  • a long cytoplasmic tail, involved in intracellular signaling
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Ms4a2 (83 pc)
    Homologene
    FAMILY
  • MS4A family
  • CATEGORY signaling , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in the regulation of B cell activation and proliferation
  • B cell-specific membrane protein that functions in store-operated calcium entry and serves as a useful target for antibody-mediated therapeutic depletion of B cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • component of oligomeric cell surface complex involved in signal transduction
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • constitutively raft-associated
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CVID5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS