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FLASH GENE
Symbol SH2B1 contributors: mct/npt - updated : 13-02-2015
HGNC name SH2B adaptor protein 1
HGNC id 30417
Corresponding disease
DEL16P112D chromosome 16p11.2 distal microdeletion syndrome, 220kb
Location 16p11.2      Physical location : 28.875.077 - 28.885.533
Synonym name
  • SH2-B homolog
  • SH2-B alpha signaling protein
  • pro-rich, PH and SH2 domain-containing signaling mediator
  • SH2 domain-containing putative adapter SH2-B
  • SH2-B gamma signaling protein
  • Synonym symbol(s) SH2-B, FLJ30542, SH2B, SH2B beta, KIAA1299, DKFZp547G1110, PSM
    DNA
    TYPE functioning gene
    STRUCTURE 27.61 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 2946 79.3 756 - 1999 10594240
    also called SH2B alpha
    9 splicing 4876 70.8 671 - 1999 10594240
  • also called variant 2 or SH2B beta
  • interacts with BAIAP2 and increases the number of BAIAP2-induced filopodia
  • phosphorylation of SH2B1beta increases the number of focal adhesions suggests a mechanism for the stimulatory effect on cell motility of SH2B1beta
  • regulates N-cadherin levels, cell-cell adhesion and nerve growth factor-induced neurite initiation
  • 10 splicing 3099 72.2 683 - 1999 10594240
    also called SH2B gamma
    10 - 3145 - 671 - 1999 10594240
    also called variant 3
    10 - 3046 - 671 - 1999 10594240
    also called variant 4
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     salivary gland   highly
    Lymphoid/Immunethymus   highly
    Nervousnerve   highly
    Reproductivefemale systemuterus   
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pleckstrin homology
  • a SH2 binding homology domains
  • HOMOLOGY
    interspecies ortholog to murine Sh2bpsm1
    Homologene
    FAMILY
  • SH2B adapter family
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • potentially involved in hormone and cytokine cellular pathway
  • required for both male and female reproduction
  • required for nerve growth factor induced neural differentiation
  • signaling molecule involved in GDNF-induced neurite outgrowth
  • signaling adaptor protein that regulates cellular signaling in various physiological processes
  • key enhancer of RET physiologic and pathologic activities
  • SH2 domain-containing adaptor protein, and a new regulator of insulin expression
  • in beta-cells promotes insulin synthesis and secretion at least in part by enhancing activation of JAK2 and/or PDX1 pathways in response to hormonal and nutritional signals
  • can enhance neurite outgrowth and accelerate the maturation of induced neurons (iNs) under defined conditions
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS reproduction/sex
    text neural differentiation
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activator (beta form) of JAK2
  • binding to FGF3 mediating signal transduction by STAT5
  • SH2B1 is responsive to EPO stimulation and becomes phosphorylated, most likely on serines/threonines, in an EPO dose- and time-dependent manner
  • interaction between SH2B1 and EPOR (SH2B1 becomes phosphorylated in response to EPO and acts as a negative regulator of signaling downstream of the EPOR)
  • is a negative regulator of EPO signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL16P112D
    Susceptibility morbid obesity
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Sh2b (-/-) mice have genital anomaly
  • heterozygous deletion of Sh2b1 decreased pancreatic insulin content and plasma insulin levels in leptin-deficient ob/ob mice, thus exacerbating hyperglycemia and glucose intolerance