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FLASH GENE
Symbol SH2B3 contributors: mct/npt - updated : 05-07-2015
HGNC name SH2B adaptor protein 3
HGNC id 29605
Location 12q24.12      Physical location : 111.843.751 - 111.889.426
Synonym name
  • lymphocyte-specific adapter protein Lnk
  • signal transduction protein Lnk
    • Synonym symbol(s) LNK
    DNA
    TYPE functioning gene
    STRUCTURE 45.68 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 5425 63 575 - Li (2000)
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal proline-rich region
  • Src homology 2 domain (SH2)
  • pleckstrin homology (PH) domain
  • DD domain mediating the formation of homo- and heterodimers between members of the SH2B family (Li 2007)
    • HOMOLOGY
    interspecies homolog to murine Lnk
    Homologene
    FAMILY
  • SH2B adapter family
    • CATEGORY adaptor , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,nucleus
    text juxtanuclear and membrane
    basic FUNCTION
  • mediating the interaction between extracellular ligand to downstream effectors
  • putative inhibitor of T cell activation
  • functions in responses controlled by cell adhesion and in crosstalk between integrin- and cytokine-mediated signaling (Takizawa 2008)
  • regulating growth and maturation of megakaryocytes (Takizawa 2008)
  • negative regulator of hematopoietic cytokine signaling and a potent inhibitor of myeloproliferative disorder-associated JAK2 mutant, JAK2V617F (Gery 2009)
  • plays a role in protection against bacteria infection (Zhernakova 2010)
  • function of the protein in the innate immune response (Zhernakova 2010)
  • suppresses IL7R/JAK/STAT signaling to restrict pro-/pre-B progenitor expansion and leukemia development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding T cell receptor,zeta subunit, inhibiting the activation of NFAT in stimulated T cells
  • FLNA
  • is a negative regulator of PDGFR signaling
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation     loss of function
    in Ph-like ALLs
    Susceptibility
  • to type 1 diabetes (T1D)
  • to multiple sclerosis
    • Variant & Polymorphism other
  • 784T>C variant could contribute to the pathogenesis of T1D through impaired immune response that promotes activation and expansion of self-reactive lymphocytes in susceptible individuals (Lavrikova 2010)
  • rs3184504 in SH2B3 confer susceptibility for multiple sclerosis (Pubmed 20508602)
    • Candidate gene
    Marker
  • expression of RGS1, TAGAP, TNFSF14, and SH2B3 in peripheral blood mononuclear cells can predict Crohn Disease at least 9 months before the appearance of any clinical and serological signs of the disease
    • Therapy target
    ANIMAL & CELL MODELS