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FLASH GENE
Symbol ITGA2B contributors: mct/ - updated : 20-11-2018
HGNC name integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
HGNC id 6138
Corresponding disease
GT2 Glanzmann thrombasthenia
Location 17q21.31      Physical location : 42.449.549 - 42.466.873
Synonym name
  • platelet glycoprotein 2B
  • integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)
  • antigen cell differentiation CD41, identified by antibodies CLB-thromb/7, P256, g6-5C3
  • CD41 antigen
  • Synonym symbol(s) CD41B, GP2B, GTA, CD41, HPA3, ITGAB, BDPLT16, BDPLT2, CD41B, PPP1R93
    DNA
    TYPE functioning gene
    STRUCTURE 17.32 kb     30 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    text structure two important regulatory regions needed for the expression at high levels during megakaryopoiesis
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    30 - 3334 - 1039 - 2018 29125375
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmegakaryocyte Homo sapiens
    Blood/Hematopoieticplatelet Homo sapiens
    not specificmast cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal large extracellular domain consisting of a sevenfold repeated structure with putative cation-binding motifs in the three of four C terminal repeats
  • proteolytically processed into disulfide linked heavy and light chains
  • the extracellular domain is connected by a single transmembrane segment (1TM) to a short conserved cytoplasmic domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • integrin alpha chain family
  • CATEGORY adhesion , antigen , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    basic FUNCTION
  • cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells, through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells
  • collectively, ITGA2B /ITGB3 in mast cells plays an important part in fibrinogen (FB)-associated, chronic inflammation and innate immune responses
  • contributes to hematopoietic stem cell (HSC) and megakaryocyte/platelet functions
  • fibrinogen binding to the integrin ITGA2B, ITGB3 mediates platelet aggregation and spreading on fibrinogen-coated surfaces
  • platelets clearly support early steps in pulmonary metastasis via ITGA2B-dependent formation of platelet-tumor-aggregates, but at a later stage its absence is associated with an accelerated development of melanoma metastases
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizing with ITGB3 in fibrinogen, fibronectin, von Willebrand factor, vitronectin, thrombospondin receptors
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • target gene for FLI1
  • COL17A1
  • interaction between Trp110 of ITGA2B and Arg261 of ITGB3 is critical for ITGA2B/ITGB3 integrity and outside-in signaling-related functions
  • following commitment to megakaryocyte differentiation, the H3K27 demethylase KDM6B up-regulation influences both ITGA2B and MPL expression
  • PTK2B was rapidly phosphorylated and activated in platelets adherent to fibrinogen through integrin ITGA2B/ITGB3
  • deoxyribose-1-phosphate (dRP) is a novel autocrine amplifier of platelet activity, which acts on platelet redox levels and modulates ITGA2B/ITGB3
  • serine/threonine phosphatases regulate platelet ITGA2B/ITGB3 integrin receptor outside-in signaling mechanisms and clot retraction
  • FYB promotes integrin ITGA2B/ITGB3 activation in platelets, which lack SKAP1, suggesting an FYB integrin-regulatory pathway different from those in lymphocytes
  • WDR1 is essential for TLN1-induced activation of ITGA2B during platelet activation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GT2
    related resource Glanzmann Thrombasthenia Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    specifically up regulated during megakaryopoiesis
    constitutional     --over  
    ITGA2B/ITGB3 is significantly higher in atopic myelitis (AM) patients than in controls as well as in females compared with males
    constitutional germinal mutation     gain of function
    activating mutations in ITGA2B and ITGB3 represent the etiology of a subset of congenital macrothrombocytopenias
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • ITGA2B, ITGA8, GIT1, and SHC1 were identified as independent prognostic factors of overall survival of clear cell renal cell carcinoma
  • ITGA2B/ITGB3 complex activation could be a putative prognostic biomarker for the rate of cognitive decline in Alzheimer patients
  • Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    ITGA2B/ITGB3 complex activation could be a potential new treatment target in Alzheimer patients
    ANIMAL & CELL MODELS