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    GAB2 GRB2-associated binding protein 2 [ Homo sapiens ]

    Gene ID: 9846, updated on 19-May-2012

    Summary

    Official Symbol
    GAB2provided by HGNC
    Official Full Name
    GRB2-associated binding protein 2provided by HGNC
    Primary source
    HGNC:14458
    See related
    Ensembl:ENSG00000033327; HPRD:05866; MIM:606203; Vega:OTTHUMG00000166673
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA0571
    Summary
    This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

    Genomic context

    Location :
    11q14.1
    Sequence :
    Chromosome: 11; NC_000011.9 (77926336..78128868, complement)
    See GAB2 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100289388 Neighboring gene potassium channel tetramerisation domain containing 21 Neighboring gene ubiquitin specific peptidase 35 Neighboring gene uncharacterized LOC100506220 Neighboring gene zinc finger protein 75C, pseudogene Neighboring gene asparaginyl-tRNA synthetase 2, mitochondrial (putative) Neighboring gene odz, odd Oz/ten-m homolog 4 (Drosophila) Neighboring gene microRNA 708

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NC_000011.8 NP_005216.1 E2F1    BIND  PubMed The Gab2 promoter region interacts with E2F1. 
    NC_000011.8 NP_004082.1 E2F2    BIND  PubMed The Gab2 promoter region interacts with E2F2. 
    NC_000011.8 NP_001940.1 E2F3    BIND  PubMed The Gab2 promoter region interacts with E2F3. 
    Q9UQC2 P31749 AKT1    HPRD  PubMed  
    Q9UQC2 RICS ARHGAP32    HPRD  PubMed  
    Q9UQC2 P20963 CD247    HPRD  PubMed  
    Q9UQC2 P46109 CRKL    HPRD  PubMed  
    Q9UQC2 P19235 EPOR    HPRD  PubMed  
    Q9UQC2 O75791 GRAP2    HPRD  PubMed  
    Q9UQC2 P62993 GRB2    HPRD  PubMed  
    Q9UQC2 O00145 INPP5D    HPRD  PubMed  
    Q9UQC2 O43561 LAT    HPRD  PubMed  
    Q9UQC2 P06239 LCK    HPRD  PubMed  
    Q9UQC2 P07948 LYN    HPRD  PubMed  
    Q9UQC2 P28482 MAPK1    HPRD  PubMed  
    Q9UQC2 P27361 MAPK3    HPRD  PubMed  
    Q9UQC2 P31152 MAPK4    HPRD  PubMed  
    Q9UQC2 P27986 PIK3R1    HPRD  PubMed  
    Q9UQC2 P16885 PLCG2    HPRD  PubMed  
    Q9UQC2 Q06124 PTPN11    HPRD  PubMed  
    Q9UQC2 P29350 PTPN6    HPRD  PubMed  
    Q9UQC2 P29353 SHC1    HPRD  PubMed  
    Q9UQC2 P12931 SRC    HPRD  PubMed  
    Q9UQC2 P43405 SYK    HPRD  PubMed  
    Q9UQC2 Q9Y6Q6 TNFRSF11A    HPRD  PubMed  
    Q9UQC2 P43403 ZAP70    HPRD  PubMed  
    BioGRID:115181 BioGRID:106710 AKT1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    NP_055530.2 ARHGAP32    BIND  PubMed Gab2 interacts with GC-GAP. 
    BioGRID:115181 BioGRID:115091 ARHGAP32    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:115181 BioGRID:107083 BCR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115181 BioGRID:107357 CD247    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115181 BioGRID:107789 CRKL    BioGRID  PubMed Affinity Capture-Western; Protein-peptide; Two-hybrid 
    BioGRID:115181 BioGRID:108421 ETV6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115181 BioGRID:115973 GRAP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115181 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:115181 BioGRID:117971 LAT    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115181 BioGRID:110245 LYN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115181 BioGRID:110391 MET    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115181 BioGRID:110770 NCK1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115181 BioGRID:111313 PIK3R1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:115181 BioGRID:111351 PLCG1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115181 BioGRID:111352 PLCG2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115181 BioGRID:111745 PTPN11    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:115181 BioGRID:111742 PTPN6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115181 BioGRID:112361 SHC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115181 BioGRID:112592 SRC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115181 BioGRID:113367 ZAP70    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      B Cell Receptor Signaling Pathway, organism-specific biosystemThe B cell receptor includes membrane ?? heavy chain molecules bound to a light chain and an Ig alpha (CD79A)/Ig beta (CD79B) heterodimer. Activation of the B cell receptor involves phosphorylation o...
    • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
      Chronic myeloid leukemia, organism-specific biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
    • Chronic myeloid leukemia, conserved biosystem (from KEGG)
      Chronic myeloid leukemia, conserved biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • Fc epsilon RI signaling pathway, organism-specific biosystem (from KEGG)
      Fc epsilon RI signaling pathway, organism-specific biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
    • Fc epsilon RI signaling pathway, conserved biosystem (from KEGG)
      Fc epsilon RI signaling pathway, conserved biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
    • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem (from Pathway Interaction Database)
      Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem
      Fc-epsilon receptor I signaling in mast cells
    • IL-2 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-2 Signaling Pathway, organism-specific biosystemInterleukin-2 belongs to a family of cytokines, which includes IL-4, IL-7, IL-9, IL-15 and IL-21. IL-2 signals through a receptor complex consisting of IL-2 specific IL-2 receptor alpha (CD25), IL-2 ...
    • IL-3 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-3 Signaling Pathway, organism-specific biosystemInterleukin-3 belongs to a family of cytokines, which includes IL-5 and GM-CSF. It signals through a receptor complex comprising of an IL-3 specific IL-3 receptor alpha subunit (IL3RA) and a common b...
    • IL-6 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-6 Signaling Pathway, organism-specific biosystemInterleukin-6 belongs to a family of cytokines which includes IL-11, ciliary neurotrophic factor (CNTF), cardiotropin-1, cardiotrophin-like cytokine, leukemia inhibitory factor (LIF) and Oncostatin M...
    • IL2 signaling events mediated by PI3K, organism-specific biosystem (from Pathway Interaction Database)
      IL2 signaling events mediated by PI3K, organism-specific biosystem
      IL2 signaling events mediated by PI3K
    • IL2 signaling events mediated by STAT5, organism-specific biosystem (from Pathway Interaction Database)
      IL2 signaling events mediated by STAT5, organism-specific biosystem
      IL2 signaling events mediated by STAT5
    • IL2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL2-mediated signaling events, organism-specific biosystem
      IL2-mediated signaling events
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
      Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
    • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
    • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
      Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
    • Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem
      Neurotrophic factor-mediated Trk receptor signaling
    • Osteoclast differentiation, organism-specific biosystem (from KEGG)
      Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Osteoclast differentiation, conserved biosystem (from KEGG)
      Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    • T Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      T Cell Receptor Signaling Pathway, organism-specific biosystem
      T Cell Receptor Signaling Pathway
    • TCR signaling in naive CD4+ T cells, organism-specific biosystem (from Pathway Interaction Database)
      TCR signaling in naive CD4+ T cells, organism-specific biosystem
      TCR signaling in naive CD4+ T cells

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3/SH2 adaptor activity RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    phosphatidylinositol-3,4,5-trisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol-3,4-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphatidylinositol-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of mast cell degranulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transmembrane receptor protein tyrosine kinase signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    GRB2-associated-binding protein 2
    Names
    GRB2-associated-binding protein 2
    pp100
    Grb2-associated binder 2
    growth factor receptor bound protein 2-associated protein 2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016171.1 RefSeqGene

      Range
      5001..207533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012296.3NP_036428.1  GRB2-associated-binding protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AI858080, BC152459, DA674753
      Consensus CDS
      CCDS8260.1
      UniProtKB/Swiss-Prot
      Q9UQC2
      Related
      ENSP00000343959, OTTHUMP00000234012, ENST00000340149, OTTHUMT00000391084
      Conserved Domains (2) summary
      PTZ00232
      Location:515601
      Blast Score: 97
      PTZ00232; variable surface protein Vir27; Provisional
      cl00273
      Location:178
      Blast Score: 319
      PH-like; Pleckstrin homology-like domain
    2. NM_080491.2NP_536739.1  GRB2-associated-binding protein 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AI858080, BC131711, BC152459, BY799914, DA674753, DB636423
      Consensus CDS
      CCDS8259.1
      UniProtKB/Swiss-Prot
      Q9UQC2
      Related
      ENSP00000354952, OTTHUMP00000234013, ENST00000361507, OTTHUMT00000391085
      Conserved Domains (2) summary
      PTZ00232
      Location:553639
      Blast Score: 98
      PTZ00232; variable surface protein Vir27; Provisional
      cd01266
      Location:9116
      Blast Score: 463
      PH_Gab; Gab (Grb2-associated binder) pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p5 Primary Assembly

      Range
      77926336..78128868, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      74223777..74350451, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AP002985.2 (69658..202166) None
    genomic AP003086.2 None
    genomic CH471076.1 EAW75057.1
      EAW75058.1
    mRNA AA865573.1 None
    mRNA AB011143.1 BAA25497.2
    mRNA AB018413.1 BAA76737.1
    mRNA AI858080.1 None
    mRNA BC131711.1 AAI31712.1
    mRNA BC152459.1 AAI52460.1
    mRNA BY799914.2 None
    mRNA DA674753.1 None
    mRNA DB636423.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UQC2.1 GenPept UniProtKB/Swiss-Prot:Q9UQC2

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