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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GAB2 Gene

protein-coding   GIFtS: 65
GCID: GC11M077926

GRB2-Associated Binding Protein 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
GRB2-Associated Binding Protein 21 2
GRB2-Associated Binder 21 2 3
Growth Factor Receptor Bound Protein 2-Associated Protein 22 3
pp1002 3
GRB2-Associated-Binding Protein 22
KIAA05713

External Ids:    HGNC: 144581   Entrez Gene: 98462   Ensembl: ENSG000000333277   OMIM: 6062035   UniProtKB: Q9UQC23   

Export aliases for GAB2 gene to outside databases

Previous GC identifers: GC11M080253 GC11M079465 GC11M078149 GC11M077652 GC11M077603 GC11M074223


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GAB2 Gene:
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)

GeneCards Summary for GAB2 Gene: 
GAB2 (GRB2-associated binding protein 2) is a protein-coding gene. Diseases associated with GAB2 include louse-borne relapsing fever, and relapsing fever, and among its related super-pathways are Immune response BCR pathway and IL2-mediated signaling events. GO annotations related to this gene include SH3/SH2 adaptor activity and phosphatidylinositol-3,4-bisphosphate binding. An important paralog of this gene is GAB1.

UniProtKB/Swiss-Prot: GAB2_HUMAN, Q9UQC2
Function: Adapter protein which acts downstream of several membrane receptors including cytokine, antigen,
hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast
differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells
activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell
proliferation and hematopoiesis

Gene Wiki entry for GAB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GAB2 gene promoter:
         SRF   AP-1   HSF2   SRF (504 AA)   ATF-2   Nkx2-5   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAB2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GAB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GAB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q14.1   Ensembl cytogenetic band:  11q14.1   HGNC cytogenetic band: 11q13.4-q13.5

GAB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAB2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M077926:  view genomic region     (about GC identifiers)

Start:
77,926,336 bp from pter      End:
78,129,394 bp from pter
Size:
203,059 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GAB2_HUMAN, Q9UQC2 (See protein sequence)
Recommended Name: GRB2-associated-binding protein 2  
Size: 676 amino acids; 74458 Da
Subunit: Interacts with SHC1; may mediate interaction with receptors (By similarity). Interacts with SYK (By
similarity). Interacts with PI-3 kinase. Interacts with GRB2 (via SH3 2 domain). Interacts (phosphorylated) with
PTPN11. Interacts with TNFRSF11A (via cytoplasmic domain). Interacts (phosphorylated) with 14-3-3 family proteins
SFN, YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ and YWHAZ; prevents interaction with GRB2 and attenuates GAB2 signaling.
Interacts with HCK
Subcellular location: Cytoplasm. Cell membrane
Sequence caution: Sequence=BAA25497.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for GAB2:
2VWF (3D)        2W0Z (3D)    
Secondary accessions: A2RRM2 A6NEW9 A7MD36 O60317
Alternative splicing: 2 isoforms:  Q9UQC2-1   Q9UQC2-2   

Explore the universe of human proteins at neXtProt for GAB2: NX_Q9UQC2

Post-translational modifications:

  • UniProtKB: Phosphorylated on tyrosine residue(s) by the thrombopoietin receptor (TPOR), stem cell factor receptor (SCFR), and
    T-cell and B-cell antigen receptors, gp130, IL-2R and IL-3R (By similarity). Phosphorylated upon stimulation of
    TNFRSF11A/RANK by TNFSF11/RANKL (By similarity). Phosphorylated upon EGF stimulation. Phosphorylated on tyrosine
    residues by HCK upon IL6 signaling
  • UniProtKB: Dephosphorylated by PTPN11
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UQC2

  • GAB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins (2 alternative transcripts): 
    NP_036428.1  NP_536739.1  

    ENSEMBL proteins: 
     ENSP00000343959   ENSP00000354952   ENSP00000433762   ENSP00000431868  
    Reactome Protein details: Q9UQC2
    Human Recombinant Protein Products for GAB2: 
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    OriGene Protein Over-expression Lysate for GAB2
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    Novus Biologicals GAB2 Protein
    Novus Biologicals GAB2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GAB2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA19172738
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA19172738

    GAB2 for ontologies           About GeneDecksing



    GAB2 Antibody Products: 
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    Abcam antibodies for GAB2
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    LSBio Antibodies in human, mouse, rat for GAB2 

    Assay Products for GAB2: 
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    Cloud-Clone Corp. ELISAs for GAB2 
    Cloud-Clone Corp. CLIAs for GAB2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing

    2 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q9UQC2

    ProtoNet protein and cluster: Q9UQC2

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: GAB2_HUMAN, Q9UQC2
    Domain: The SH3-binding motifs mediate interaction with SHC1 and GRB2 (By similarity)
    Domain: The PH domain mediates phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,4-bisphosphate
    binding (By similarity)
    Similarity: Belongs to the GAB family
    Similarity: Contains 1 PH domain


    GAB2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GAB2_HUMAN, Q9UQC2
    Function: Adapter protein which acts downstream of several membrane receptors including cytokine, antigen,
    hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast
    differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells
    activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell
    proliferation and hematopoiesis

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005068transmembrane receptor protein tyrosine kinase adaptor activity IDA19172738
    GO:0005070SH3/SH2 adaptor activity RCA19641626
    GO:0005515protein binding IPI15170389
    GO:0005543phospholipid binding ----
    GO:0005547phosphatidylinositol-3,4,5-trisphosphate binding ISS--
         
    GAB2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GAB2:
     Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Gab2):
     cardiovascular system  cellular  hematopoietic system  immune system  mortality/aging 
     muscle  skeleton 

    GAB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GAB2: Gab2tm1Gsf Gab2tm1Thir Gab2tm1Pngr

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GAB2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GAB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GAB2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GAB2 

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    hsa-miR-520e hsa-miR-520f hsa-miR-1260b hsa-miR-149 hsa-miR-3649 hsa-miR-3612 hsa-miR-3622a-5p hsa-miR-520b
    SwitchGear 3'UTR luciferase reporter plasmidGAB2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for GAB2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAB2
    Sirion Biotech Customized lentivirus for stable overexpression of GAB2 
                         Customized lentivirus expression plasmids for stable overexpression of GAB2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAB2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GAB2 About   (see all 38)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Fc epsilon RI pathway
    Immune response Fc epsilon RI pathway0.45
    Fc-epsilon receptor I signaling in mast cells0.33
    Fc epsilon RI signaling pathway0.40
    2IL-2 Signaling pathway
    IL2-mediated signaling events0.49
    IL-2 Signaling pathway0.49
    3Development HGF signaling pathway
    Development Neurotrophin family signaling0.45
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)0.31
    4Interleukin-3, 5 and GM-CSF signaling
    Interleukin receptor SHC signaling0.67
    Interleukin-3, 5 and GM-CSF signaling0.57
    Interleukin-2 signaling0.67
    Signaling by Interleukins0.45
    5Signaling by FGFR1 mutants
    Signaling by FGFR1 mutants0.67
    Signaling by FGFR1 fusion mutants0.63
    Signaling by FGFR mutants0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD Millipore Pathways for GAB2 (see all 6)
        Development GDNF family signaling
    Development Neurotrophin family signaling
    Immune response Fc epsilon RI pathway
    Immune response ICOS pathway in T-helper cell
    Development Flt3 signaling

    1 R&D Systems Pathway for GAB2
        Akt Signaling Pathway

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GAB2
        FLT3 Signaling
    p70S6K Signaling
    Molecular Mechanisms of Cancer
    ICos-ICosL Pathway in T-Helper Cell
    Akt Signaling

    2 Cell Signaling Technology (CST) Pathways for GAB2
        Neuroscience
    Tyrosine Kinases / Adaptors

    5/6 GeneGo (Thomson Reuters) Pathways for GAB2 (see all 6)
        Development GDNF family signaling
    Development Neurotrophin family signaling
    Immune response Fc epsilon RI pathway
    Immune response ICOS pathway in T-helper cell
    Development Flt3 signaling

    5/16 BioSystems Pathways for GAB2 (see all 16)
        EGFR1 Signaling Pathway
    TCR Signaling Pathway
    IL-6 Signaling Pathway
    IL-3 Signaling Pathway
    IL-2 Signaling pathway


    5/16        Reactome Pathways for GAB2 (see all 16)
        Signaling by FGFR1 mutants
    Disease
    Interleukin receptor SHC signaling
    Signal Transduction
    Immune System


    4         Kegg Pathways  (Kegg details for GAB2):
        Osteoclast differentiation
    Fc epsilon RI signaling pathway
    Fc gamma R-mediated phagocytosis
    Chronic myeloid leukemia


    GAB2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GAB2

    5/42 Interacting proteins for GAB2 (Q9UQC21, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629931, 2, 3EBI-975200,EBI-401755 MINT-58401 MINT-7219506 MINT-7219550 MINT-7219571 MINT-7219602 MINT-7220613 MINT-7219528 MINT-7221243 MINT-7300447 MINT-7219679 MINT-7219698 I2D: score=9 
    YWHABP319462, 3MINT-7300139 MINT-8008769 MINT-8008762 MINT-7300434 I2D: score=1 
    PTPN11Q061242, 3MINT-8037234 MINT-7300447 MINT-8038265 I2D: score=8 
    SHC1P293532, 3MINT-14688 MINT-14689 I2D: score=5 
    PIK3R1P279862, 3MINT-68496 I2D: score=6 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway IDA19172738
    GO:0007229integrin-mediated signaling pathway IEA--
    GO:0008284positive regulation of cell proliferation IDA19172738
    GO:0016477cell migration IEA--
    GO:0030316osteoclast differentiation IMP15750601

    GAB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GAB2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GAB2

    8 Novoseek inferred chemical compound relationships for GAB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pp 100 79.6 6 12636255 (4), 7683492 (1)
    phosphatidylinositol 67.7 7 15143164 (1), 16371368 (1), 11489921 (1), 10455108 (1) (see all 6)
    tyrosine 67.5 72 15356145 (5), 11340297 (4), 12636255 (3), 15170389 (3) (see all 29)
    imatinib 44.2 7 18235045 (3), 18071309 (1)
    phosphoinositide 33.6 3 14530346 (1), 18697750 (1), 11335710 (1)
    lipid 0 3 16456001 (2)
    threonine 0 4 15356145 (1), 11782427 (1)
    serine 0 7 15356145 (3), 11782427 (1)

    Search CenterWatch for drugs/clinical trials and news about GAB2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GAB2 gene (2 alternative transcripts): 
    NM_012296.3  NM_080491.2  

    Unigene Cluster for GAB2:

    GRB2-associated binding protein 2
    Hs.429434  [show with all ESTs]
    Unigene Representative Sequence: NM_080491
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340149(uc001ozg.3) ENST00000361507(uc001ozh.3) ENST00000528329
    ENST00000526030 ENST00000528886 ENST00000530915 ENST00000534823

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    Additional mRNA sequence: 

    AB011143.1 AB018413.1 BC131711.1 BC152459.1 

    7 DOTS entries:

    DT.95167054  DT.100744553  DT.100721545  DT.120751567  DT.91765984  DT.120751557  DT.91684213 

    24/125 AceView cDNA sequences (see all 125):

    BQ186653 BQ279179 BI089482 BQ070464 AB018413 BU173648 BE855609 BF988854 
    BQ683030 BQ926998 BE894153 BU145529 BQ071161 BQ676068 NM_080491 BQ070372 
    AA369150 CA436196 BQ683715 AA157331 BM987768 CR600944 AW298268 CA389434 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for GAB2 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14
    SP1:                                                                                                                                    
    SP2:                                                                                                                                    
    SP3:                                                                                                                                    
    SP4:                                                              -                                                                     
    SP5:        -     -     -                                                                                                               


    ECgene alternative splicing isoforms for GAB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GAB2 expression in normal human tissues (normalized intensities)      GAB2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTACAGGCTT
    GAB2 Expression
    About this image


    GAB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Mast cell progenitor cells Hematopoietic Bone Marrow
             monocytes   
     
     Gonad
             Primordial Germ Cells Allantois
     
     Placenta (Extraembryonic Tissues)
             Primordial Germ Cells Allantois
     
     Brain (Nervous System)
             lateral substantia nigra   
     
     Ovary (Reproductive System)

    Genevestigator expression for GAB2

    SOURCE GeneReport for Unigene cluster: Hs.429434
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GAB2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gab21 , 5 growth factor receptor bound protein 2-associated protein more1, 5 89.02(n)1
    94.11(a)1
      7 (53.39 cM)5
    143891  NM_010248.21  NP_034378.21 
     970817515 
    chicken
    (Gallus gallus)
    Aves GAB21 GRB2-associated binding protein 2 74.8(n)
    79.17(a)
      419027  XM_001234548.2  XP_001234549.1 
    lizard
    (Anolis carolinensis)
    Reptilia GAB26
    Uncharacterized protein
    77(a)
    1 → many
    GL343337.1(254075-456936)
    zebrafish
    (Danio rerio)
    Actinopterygii gab21 GRB2-associated binding protein 2 65.22(n)
    67.18(a)
      564517  XM_687843.3  XP_692935.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta dos6
    daughter of sevenless
    12(a)
    1 → many
    3L(2589414-2595590)


    ENSEMBL Gene Tree for GAB2 (if available)
    TreeFam Gene Tree for GAB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GAB2 gene
    GAB12  GAB32  GAB42  
    2 SIMAP similar genes for GAB2 using alignment to 3 protein entries:     GAB2_HUMAN (see all proteins):
    GAB1    GAB4

    GAB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4605 SNPs in GAB2 are shown (see all 4605)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1416369841,2
    C--74223332(+) GAGACC/TGAGAC 2 -- int10--------
    rs1134748551,2
    C--74223367(+) GGTTT-/TGGGGG 2 -- int11Minor allele frequency- T:0.00CSA 2
    rs1929578851,2
    --74223375(+) GGGGGC/GGGGGG 2 -- int10--------
    rs25125221,2
    C,F,A,H--77790508(-) CATCTC/GACACG 2 -- ds500111Minor allele frequency- G:0.26NS EA NA WA 782
    rs1911109761,2
    --77790515(+) GATGCC/TACAGG 2 -- ds50010--------
    rs1848771381,2
    --77790517(+) TGCCAC/TAGGGA 2 -- ds50010--------
    rs577559271,2
    C--77790534(+) AGCCC-/TCT   
      ACTGAA
    TCTAC
    2 -- ds50010--------
    rs2019743751,2
    C--77790557(+) GTGGGG/TTGTAA 2 -- ds50010--------
    rs1892539041,2
    C--77790616(+) TGCCCA/G/TTGGAG 2 -- ds50010--------
    rs1435799271,2
    C--77790709(+) TGGGCC/TCAATG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for GAB2 (77926336 - 78129394 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GAB2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv510261CNV Loss20534489
    nsv527066CNV Gain19592680
    nsv520740CNV Gain19592680


    Human Gene Mutation Database (HGMD): GAB2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606203    OMIM disorders: --

    20 diseases for GAB2:    About MalaCards
    louse-borne relapsing fever    relapsing fever    juvenile myelomonocytic leukemia    mycosis fungoides
    chronic myeloid leukemia    myeloid leukemia    dementia    multiple myeloma
    myeloma    alzheimer's disease    leukemia    melanoma
    rheumatoid arthritis    hepatitis b    arthritis    breast cancer
    ovarian cancer    hepatitis    endotheliitis    neuronitis


    GAB2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred disease relationships for GAB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloid leukemia chronic 36.7 2 18235045 (1), 16278304 (1)
    leukemia 25.8 1 19737390 (1)
    breast cancer 13.3 18 12140767 (4), 17558859 (2), 17998934 (2), 17310989 (1) (see all 6)
    virus infection 0 1 17353274 (1)
    metastasis 0 8 17310989 (4), 17558859 (1), 19342374 (1)
    tumors 0 15 19342374 (3), 16369543 (2), 11340297 (2), 17310989 (1) (see all 5)
    lymphoma 0 1 14530346 (1)
    cancer 0 4 17310989 (1), 17558859 (1), 19342374 (1), 19523899 (1)

    Genetic Association Database (GAD): GAB2
    Human Genome Epidemiology (HuGE) Navigator: GAB2 (23 documents)

    Export disorders for GAB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GAB2 gene, integrated from 9 sources (see all 156):
    (articles sorted by number of sources associating them with GAB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gab-family adapter proteins act downstream of cytokine and growth factor receptors and T- and B-cell antigen receptors. (PubMed id 10068651)1, 2, 3, 9 Nishida K....Hirano T. (1999)
    2. Gab2, a new pleckstrin homology domain-containing adapter protein, acts to uncouple signaling from ERK kinase to Elk-1. (PubMed id 10391903)1, 3, 9 Zhao C....Feng G.S. (1999)
    3. Phosphorylation-dependent binding of 14-3-3 terminates signalling by the Gab2 docking protein. (PubMed id 19172738)1, 2, 9 Brummer T.... Daly R.J. (2008)
    4. Distinct binding modes of two epitopes in Gab2 that interact with the SH3C domain of Grb2. (PubMed id 19523899)1, 2, 9 Harkiolaki M.... Feller S.M. (2009)
    5. The molecular scaffold Gab2 is a crucial component of RANK signaling and osteoclastogenesis. (PubMed id 15750601)1, 2, 9 Wada T.... Penninger J.M. (2005)
    6. GAB2 is not associated with late-onset Alzheimer's disease in Japanese. (PubMed id 18854865)1, 4, 9 Miyashita A....Kuwano R. (2008)
    7. Critical role for hematopoietic cell kinase (Hck)-mediated phosphorylation of Gab1 and Gab2 docking proteins in interleukin 6-induced proliferation and survival of multiple myeloma cells. (PubMed id 15010462)1, 2, 9 Podar K....Anderson K.C. (2004)
    8. Validating predicted biological effects of Alzheimer' s disease associated SNPs using CSF biomarker levels. (PubMed id 20634593)1, 4 Kauwe J.S....Goate A.M. (2010)
    9. Thirty new loci for age at menarche identified by a m eta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (2010)
    10. Systematic analysis of candidate genes for Alzheimer' s disease in a French, genome-wide association study. (PubMed id 20413850)1, 4 Laumet G....Lambert J.C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9846 HGNC: 14458 AceView: GAB2 Ensembl:ENSG00000033327 euGenes: HUgn9846
    ECgene: GAB2 Kegg: 9846 H-InvDB: GAB2

    (According to HUGE)
    About This Section
    HUGE: KIAA0571

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GAB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GAB2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GAB2 gene:
    Search GeneIP for patents involving GAB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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