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FLASH GENE
Symbol GAB2 contributors: npt/mct/pgu - updated : 29-05-2013
HGNC name GRB2-associated binding protein 2
HGNC id 14458
Location 11q14.1      Physical location : 77.926.336 - 78.128.868
Synonym name
  • Grb2-associated binder 2
  • growth factor receptor bound protein 2-associated protein 2
  • Synonym symbol(s) KIAA0571, pp100
    DNA
    TYPE functioning gene
    STRUCTURE 202.53 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    C11orf30 11q13.5 chromosome 11 open reading frame 30 GARP 11q13.5-q14 glycoprotein A repetitions predominant LOC390226 11 similar to Olfactory guanylyl cyclase GC-D precursor (Guanylate cyclase, olfactory) E2IG4 11q13.3 hypothetical protein, estradiol-induced PHCA 11q13.4 phytoceramidase, alkaline IMAGE:4907098 11q13.4 beta-1,3-N-acetylglucosaminyltransferase protein CAPN5 11q14 calpain 5 OMP 11q13 olfactory marker protein MYO7A 11q13.5 myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) LOC220032 11q13.4 GDPD domain containing protein LOC387791 11 similar to Mitochondrial import receptor subunit TOM20 homolog (Mitochondrial 20 kDa outer membrane protein) (Outer mitochondrial membrane receptor Tom20) PAK1 11q13.5-q14.1 p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast) LOC387792 11 LOC387792 AQP11 11q13.4 aquaporin 11 CLNS1A 11q13.5-q14.1 chloride channel, nucleotide-sensitive, 1A HBXAP 11q13.4-q14.1 hepatitis B virus x associated protein PTD015 11q13.4 PTD015 protein MGC16733 11q13.4 hypothetical gene MGC16733 similar to CG12113 KCTD14 11q13.4 potassium channel tetramerisation domain containing 14 THRSP 11q13.5 thyroid hormone responsive (SPOT14 homolog, rat) NDUFC2 11q12.1-q13.14 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa ALG8 11pter-p15.5 asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase) LOC387793 11 hypothetical gene supported by BC062331 LOC387794 11 similar to ubiquitin specific protease 38; HP43.8KD protein USP35 11q13.4 ubiquitin specific protease 35 GAB2 11q13.4-q13.5 GRB2-associated binding protein 2 FLJ23441 11q13.4 hypothetical protein FLJ23441 ODZ4 11q13.4 odd Oz/ten-m homolog 4 LOC387795 11 LOC387795
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 6118 74.3 676 - 1999 10068651
    10 - 6062 70 638 - 1999 10068651
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbrain   highly
    Reproductivefemale systemovary   
     male systemtestis  highly
    Respiratorylung   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • PH domain and proline- rich sequence
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Gab2
    intraspecies homolog to GAB1
    Homologene
    FAMILY
  • GRB2-associated binding protein (GAB) gene family
  • DOS/GAB family of scaffolding adapters
  • CATEGORY adaptor , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors
  • ERK-mediated phosphorylation of GAB2 is involved in fine tuning the proliferative response of T lymphocytes to IL-2
  • controlling select RANK signaling pathways and playing an essential role for bone homeostasis, and for the differentiation of progenitor cells into osteoclasts
  • adapter protein required for osteoclasts formation
  • having a a role in inducing activation of PI3K/Akt downstream of KIT
  • functions downstream of a variety of receptor and cytoplasmic tyrosine kinases as a docking platform for specific signal transducers and performs important functions in both normal physiology and oncogenesis
  • non-redundant and essential roles of GAB1 and GAB2 in endothelial cells, suggesting major contributions of these proteins during angiogenesis
  • play major roles in coordinating signaling downstream of hematopoietic cytokine receptors
  • regulates cytoskeletal organization and migration of mammary epithelial cells by modulating RHOA activation
  • inhibits CDH1 expression and enhances the expression of ZEB1, a transcription factor involved in epithelial-to-mesenchymal transition (EMT), and cell migration and invasion through the activation of the PI3K pathway
  • role of GAB1 and GAB2 in IL22-mediated keratinocyte proliferation, migration, and differentiation
  • role in mediating mucin gene expression and Goblet cell hyperplasia through TYK2/STAT6 pathway
  • novel regulator of tumor angiogenesis in NRAS-driven melanoma through regulation of HIF1A and VEGFA expressions mediated by RAS-RAF-MEK-ERK signaling
  • seems to coordinate signals from the FSH-stimulated rise in cAMP that leads to activation of PI3K/AKT
  • participates in the signaling response evoked by various growth factors and cytokines
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of RANK signaling
  • forms a complex with receptor activator of NF-ęB (TNFRSF11A), the tyrosine phosphatase, PTPN6, and LYN
  • GRB2/GAB2/SHC1/LRRK1 signal integrator complex is functionally involved in the balance of cellular stress responses
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor
  • interacting with Shp2 tyrosine phosphatase and Grb2 adapter protein
  • functions for GAB2 in hematopoiesis in a manner that is non-redundant with STAT5B
  • major tyrosyl phosphoprotein in the CSF1R signaling network
  • RPS6KA1 is a part of a negative-feedback loop that restricts GAB2-dependent epithelial cell motility
  • cell & other
    REGULATION
    Phosphorylated by the Ras/mitogen-activated protein kinase (MAPK) pathway, that promotes GAB2 phosphorylation on basic consensus motifs
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer, and promote mammary epithelial cell migration
    constitutional       loss of function
    in osteopetrosis
    tumoral   amplification    
    in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS)
    tumoral     --over  
    in gliomas
    tumoral     --over  
    in a subset of ovarian tumors and cancer cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • useful prognostic marker for gliomas
  • Therapy target agents that target GAB2 or GAB2-dependent pathways may be useful for treating breast tumors that overexpress GAB2 or HER2 or both (Bentires-Alj 2006)
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    novel therapeutic target for glioma invasion intervention
    cancerreproductivebreast
    agents that target GAB2 or GAB2-dependent pathways may be useful for treating breast tumors that overexpress GAB2 or HER2 or both
    ANIMAL & CELL MODELS