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    GAB2 GRB2 associated binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 9846, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GAB2provided by HGNC
    Official Full Name
    GRB2 associated binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:14458
    See related
    Ensembl:ENSG00000033327 MIM:606203; AllianceGenome:HGNC:14458
    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
    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]
    Expression
    Ubiquitous expression in brain (RPKM 13.2), bone marrow (RPKM 11.6) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See GAB2 in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (78215293..78417820, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (78148579..78351115, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77926339..78128866, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5316 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77851405-77852115 Neighboring gene KCTD21 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 126, pseudogene Neighboring gene ALG8 alpha-1,3-glucosyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77884885-77885386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77890493-77890992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3809 Neighboring gene potassium channel tetramerization domain containing 21 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77921405-77922031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5318 Neighboring gene ubiquitin specific peptidase 35 Neighboring gene Sharpr-MPRA regulatory region 2371 Neighboring gene uncharacterized LOC105369402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5320 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:78076162-78077074 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:78081224-78082174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5321 Neighboring gene zinc finger protein 75C, pseudogene Neighboring gene Sharpr-MPRA regulatory region 74 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:78127852-78128606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5322 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:78137590-78137755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5323 Neighboring gene long intergenic non-protein coding RNA 2728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5326 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:78178372-78178539 Neighboring gene uncharacterized LOC105369403 Neighboring gene Sharpr-MPRA regulatory region 10369 Neighboring gene asparaginyl-tRNA synthetase 2, mitochondrial

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. GAB2 rs2373115 variant contributes to Alzheimer's disease risk specifically in European population. Hu Y, et al. J Neurol Sci, 2017 Apr 15. PMID 28320126
    2. Association analysis between polymorphism rs2373115 of gene GRB-associated binding protein 2 and Mongolian Alzheimer patients. Zhou S, et al. Neurosci Lett, 2010 Aug 9. PMID 20188796
    3. Common variant in GAB2 is associated with late-onset Alzheimer's disease in Han Chinese. Zhong XL, et al. Clin Chim Acta, 2011 Feb 20. PMID 21108942
    4. LncRNA snaR upregulates GRB2-associated binding protein 2 and promotes proliferation of ovarian carcinoma cells. Huang Y, et al. Biochem Biophys Res Commun, 2018 Sep 10. PMID 30093110
    5. Gab2 regulates cytoskeletal organization and migration of mammary epithelial cells by modulating RhoA activation. Herrera Abreu MT, et al. Mol Biol Cell, 2011 Jan 1. PMID 21118992, Free PMC Article

    See all (176) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of XIST/miRNA155/Gab2/TAK1 cascade with the pathogenesis of anti-phospholipid syndrome and its effect on cell adhesion molecules and inflammatory mediators.
      Title: Association of XIST/miRNA155/Gab2/TAK1 cascade with the pathogenesis of anti-phospholipid syndrome and its effect on cell adhesion molecules and inflammatory mediators.
    2. Gab2 plays a carcinogenic role in ovarian cancer by regulating CrkII.
      Title: Gab2 plays a carcinogenic role in ovarian cancer by regulating CrkII.
    3. miR-9 and miR-181a Target Gab2 to Inhibit the Proliferation and Migration of Hepatocellular Carcinoma HepG2 Cells.
      Title: miR-9 and miR-181a Target Gab2 to Inhibit the Proliferation and Migration of Hepatocellular Carcinoma HepG2 Cells.
    4. Gab2 promotes acute myeloid leukemia growth and migration through the SHP2-Erk-CREB signaling pathway.
      Title: Gab2 promotes acute myeloid leukemia growth and migration through the SHP2-Erk-CREB signaling pathway.
    5. FOXD3 and GAB2 as a pair of rivals antagonistically control hepatocellular carcinogenesis.
      Title: FOXD3 and GAB2 as a pair of rivals antagonistically control hepatocellular carcinogenesis.
    6. Determining folding and binding properties of the C-terminal SH2 domain of SHP2.
      Title: Determining folding and binding properties of the C-terminal SH2 domain of SHP2.
    7. Long noncoding RNA XIST enhances cerebral ischemia-reperfusion injury by regulating miR-486-5p and GAB2.
      Title: Long noncoding RNA XIST enhances cerebral ischemia-reperfusion injury by regulating miR-486-5p and GAB2.
    8. Gab2 (Grb2-Associated Binder2) Plays a Crucial Role in Inflammatory Signaling and Endothelial Dysfunction.
      Title: Gab2 (Grb2-Associated Binder2) Plays a Crucial Role in Inflammatory Signaling and Endothelial Dysfunction.
    9. MicroRNA218 inhibits tumor angiogenesis of human renal cell carcinoma by targeting GAB2.
      Title: MicroRNA‑218 inhibits tumor angiogenesis of human renal cell carcinoma by targeting GAB2.
    10. Targeting the Interaction between the SH3 Domain of Grb2 and Gab2.
      Title: Targeting the Interaction between the SH3 Domain of Grb2 and Gab2.
    Submit: New GeneRIF Correction See all GeneRIFs (105)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0571

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-3,4-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane receptor protein tyrosine kinase adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane receptor protein tyrosine kinase adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of mast cell degranulation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_016171.2 RefSeqGene

      Range
      5000..207527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012296.4 → NP_036428.1  GRB2-associated-binding protein 2 isoform b

      See identical proteins and their annotated locations for NP_036428.1

      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)
      AP002985
      Consensus CDS
      CCDS8260.1
      UniProtKB/Swiss-Prot
      Q9UQC2
      Related
      ENSP00000343959.2, ENST00000340149.6
      Conserved Domains (3) summary
      pfam00169
      Location:4 → 78
      PH; PH domain
      cl17171
      Location:1 → 88
      PH-like; Pleckstrin homology-like domain
      cl23751
      Location:515 → 601
      Plasmodium_Vir; Plasmodium vivax Vir protein

    2. NM_080491.3 → NP_536739.1  GRB2-associated-binding protein 2 isoform a

      See identical proteins and their annotated locations for NP_536739.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AP002985, AP003086
      Consensus CDS
      CCDS8259.1
      UniProtKB/Swiss-Prot
      A2RRM2, A6NEW9, A7MD36, O60317, Q9UQC2
      Related
      ENSP00000354952.4, ENST00000361507.5
      Conserved Domains (1) summary
      cl17171
      Location:4 → 126
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      78215293..78417820 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448782.2 → XP_024304550.1  GRB2-associated-binding protein 2 isoform X1

      Conserved Domains (1) summary
      cl17171
      Location:8 → 108
      PH-like; Pleckstrin homology-like domain

    2. XM_047427935.1 → XP_047283891.1  GRB2-associated-binding protein 2 isoform X2

    3. XM_047427936.1 → XP_047283892.1  GRB2-associated-binding protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      78148579..78351115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370637.1 → XP_054226612.1  GRB2-associated-binding protein 2 isoform X2

    2. XM_054370635.1 → XP_054226610.1  GRB2-associated-binding protein 2 isoform X1

    3. XM_054370638.1 → XP_054226613.1  GRB2-associated-binding protein 2 isoform X2

    4. XM_054370636.1 → XP_054226611.1  GRB2-associated-binding protein 2 isoform X2

    5. XM_054370639.1 → XP_054226614.1  GRB2-associated-binding protein 2 isoform X2

    6. XM_054370640.1 → XP_054226615.1  GRB2-associated-binding protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UQC2.1 GenPept UniProtKB/Swiss-Prot:Q9UQC2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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