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FLASH GENE
Symbol ITGB3 contributors: mct - updated : 19-08-2010
HGNC name integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
HGNC id 6156
Corresponding disease
GT3 Glanzmann thrombasthenia
Location 17q21.32      Physical location : 45.331.207 - 45.390.076
Synonym name
  • cell differentiation antigen CD61, 110kDa, identified by antibodies Y2/51, CLB-thromb/1, VI-PL, BL-E6
  • Pen alloantigen
  • Sra alloantigen
  • platelet glycoprotein IIIa
  • CD61 antigen
  • Synonym symbol(s) CD61, GP3A, GPIIIa
    DNA
    TYPE functioning gene
    STRUCTURE 58.87 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC51326 17q21.32 ARF protein NSF 17q21-q22 N-ethylmaleimide-sensitive factor WNT3 17q21.31 wingless-type MMTV integration site family, member 3 LOC388393 17 LOC388393 WNT9B 17q21 wingless-type MMTV integration site family, member 9B GOSR2 17q21 golgi SNAP receptor complex member 2 LOC388394 17 similar to RIKEN cDNA 2410012A13 LOC388395 17 similar to Hypothetical protein KIAA0563 LOC388396 17 similar to KIAA0563 protein LOC388397 17 LOC388397 CDC27 17q21.3 cell division cycle 27 MYL4 17q21.2 myosin, light polypeptide 4, alkali; atrial, embryonic ITGB3 17q21.31 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) FLJ40342 17q21.32 hypothetical protein FLJ40342 NPEPPS 17q21.2-q21.32 aminopeptidase puromycin sensitive KPNB1 17q21.32 karyopherin (importin) beta 1 ProSAPiP2 17q21.32 ProSAPiP2 protein TBX21 17q21.3 T-box 21 OSBPL7 17q21.2 oxysterol binding protein-like 7 MRPL10 17q21.32 mitochondrial ribosomal protein L10 MGC16309 17q21.32 hypothetical gene MGC16309 Ses2 17q21.32 secernin 2 SP6 17q21.3-q22 Sp6 transcription factor LOC388398 17 LOC388398 SP2 17q21.3-q22 Sp2 transcription factor PNPO 17q21.32 pyridoxine-5'-phosphate oxidase MGC11242 17q21.32 hypothetical protein MGC11242 CDK5RAP3 17q21.2 CDK5 regulatory subunit associated protein 3 COPZ2 17q21.3 coatomer protein complex, subunit zeta 2 NFE2L1 17q21.3 nuclear factor (erythroid-derived 2)-like 1 CBX1 17q21.32 chromobox homolog 1 (HP1 beta homolog Drosophila ) SNX11 17q21.2 sorting nexin 11 SCAP1 17q21.32 src family associated phosphoprotein 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 4894 87.1 788 - Jin (1998)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Urinarykidney   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six N terminal domains highly conserved between ITGBx
  • a transmembrane (1TM) segment
  • a cytoplasmic segment containing potential phosphorylation sites
  • four cys rich repeats
  • conjugated GlycoP
    mono polymer heteromer , dimer
    isoforms Precursor
    HOMOLOGY
    intraspecies paralog to ITGB1
    Homologene
    FAMILY
  • integrin beta chain family
  • CATEGORY adhesion , antigen , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • cell surface adhesion receptor for fibronectin, fibrinogen, vitronectin, prothrombin, thrombospondin and others, 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
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizing with ITGA2B, ITGAV (see symbols)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ITGA2B, ITGAV
  • may interact with SLC6A4 in mediating autism susceptibility
  • interacting with FOXC2
  • cell & other
    REGULATION
    Other regulated by NFATC1
    ASSOCIATED DISORDERS
    corresponding disease(s) GT3
    related resource Glanzmann Thrombasthenia Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in human hepatocellular carcinoma cells (Wu 2009)
    Susceptibility
  • in association with PAI1 in susceptibility to myocardial infarction in Finnish population (see PAI1)
  • to cardiovascular disease
  • to neonatal autoimmune thrombocytopenia, post transfusion
  • to autism
  • Variant & Polymorphism SNP
  • 98 C>T in susceptibility to preeclampsia
  • Leu 33 associated with lower serotonin levels and with autism
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    reconstitution of ITGB3 in hepatocellular carcinoma may be a potential therapeutic approach to inhibit aggressive growth of liver cancer
    neurologyneurodegenerativealzheimer
    ITGA2B/ITGB3 complex activation could be a putative prognostic biomarker for the rate of cognitive decline and a potential new treatment target in Alzheimer patients
    ANIMAL & CELL MODELS