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    GAB3 GRB2 associated binding protein 3 [ Homo sapiens (human) ]

    Gene ID: 139716, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GAB3provided by HGNC
    Official Full Name
    GRB2 associated binding protein 3provided by HGNC
    Primary source
    HGNC:HGNC:17515
    See related
    Ensembl:ENSG00000160219 MIM:300482; AllianceGenome:HGNC:17515
    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 gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Broad expression in spleen (RPKM 7.6), bone marrow (RPKM 4.4) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GAB3 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154675249..154751566, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152911675..152987994, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153903526..153979841, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373387 Neighboring gene olfactory receptor family 3 subfamily B member 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21115 Neighboring gene Sharpr-MPRA regulatory region 12525 Neighboring gene Sharpr-MPRA regulatory region 13577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30069 Neighboring gene small nucleolar RNA, H/ACA box 36A Neighboring gene dyskerin pseudouridine synthase 1 Neighboring gene microRNA 664b Neighboring gene small nucleolar RNA, H/ACA box 56

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High expression of GRB2 associated binding protein 3 mRNA predicts positive prognosis in melanoma.
      Title: High expression of GRB2 associated binding protein 3 mRNA predicts positive prognosis in melanoma.
    2. Identification of Grb2-associated binding protein 3 expression to predict clinical outcomes and immunotherapeutic responses in lung adenocarcinoma.
      Title: Identification of Grb2-associated binding protein 3 expression to predict clinical outcomes and immunotherapeutic responses in lung adenocarcinoma.
    3. we conclude that Gab3 overexpression in human glioma mediates Akt activation and cancer cell proliferation
      Title: Gab3 overexpression in human glioma mediates Akt activation and tumor cell proliferation.
    4. Together, our results suggest that Gab3 expression in CRC cells is important for Akt-Erk activation and cell proliferation.
      Title: Gab3 is required for human colorectal cancer cell proliferation.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    7. The carboxy-terminal SH3 domain of the adapter protein Mona interacts with the atypical proline-rich domain of Gab3 to mediate late signaling of the macrophage colony-stimulating factor receptor.
      Title: Induced expression and association of the Mona/Gads adapter and Gab3 scaffolding protein during monocyte/macrophage differentiation.
    8. Hematopoiesis in mice lacking Gab3 is not impaired, macrophages develop in normal numbers and exhibit normal function, and there is no major immune deficiency in T- and B-lymphocyte responses to protein antigens or during viral infection.
      Title: Gab3-deficient mice exhibit normal development and hematopoiesis and are immunocompetent.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables signaling adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in macrophage differentiation IEA
    Inferred from Electronic Annotation
    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
    		  

    General protein information

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    Preferred Names
    GRB2-associated-binding protein 3
    Names
    DOS/Gab family member 3
    GRB2-associated binder 3
    Gab3 scaffolding protein
    growth factor receptor bound protein 2-associated protein 3

    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_012834.2 RefSeqGene

      Range
      4997..80825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001081573.3 → NP_001075042.1  GRB2-associated-binding protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001075042.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA808085, AC244107, AK126283, AK307927, AY057989
      Consensus CDS
      CCDS48198.1
      UniProtKB/Swiss-Prot
      Q8WWW8
      Related
      ENSP00000399588.2, ENST00000424127.3
      Conserved Domains (1) summary
      cd13385
      Location:1 → 125
      PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain

    2. NM_001282283.2 → NP_001269212.1  GRB2-associated-binding protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001269212.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AA808085, AC244107, AK126283, AL832051, HY029412
      Consensus CDS
      CCDS65357.1
      UniProtKB/Swiss-Prot
      Q8WWW8
      Related
      ENSP00000358581.4, ENST00000369568.8
      Conserved Domains (1) summary
      cd13385
      Location:1 → 125
      PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain

    3. NM_080612.4 → NP_542179.1  GRB2-associated-binding protein 3 isoform 2

      See identical proteins and their annotated locations for NP_542179.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AA808085, AC244107, AL832051, AY057989, HY029412
      Consensus CDS
      CCDS14760.1
      UniProtKB/Swiss-Prot
      A6NHF8, E9PB44, Q8WWW8
      Related
      ENSP00000358588.3, ENST00000369575.7
      Conserved Domains (1) summary
      cd13385
      Location:1 → 125
      PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain

    RNA

    1. NR_104114.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5'-terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it does not encode a supported protein.
      Source sequence(s)
      AA808085, AC244107, AL832051, AY057989, DB065120
      Related
      ENST00000496390.5

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      154675249..154751566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441835.1 → XP_047297791.1  GRB2-associated-binding protein 3 isoform X6

    2. XM_047441834.1 → XP_047297790.1  GRB2-associated-binding protein 3 isoform X5

    3. XM_011531106.2 → XP_011529408.1  GRB2-associated-binding protein 3 isoform X4

      Conserved Domains (2) summary
      cd13385
      Location:1 → 125
      PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
      pfam00169
      Location:7 → 116
      PH; PH domain

    4. XM_011531105.2 → XP_011529407.1  GRB2-associated-binding protein 3 isoform X3

      Conserved Domains (2) summary
      cd13385
      Location:1 → 125
      PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
      pfam00169
      Location:7 → 116
      PH; PH domain

    5. XM_011531103.2 → XP_011529405.1  GRB2-associated-binding protein 3 isoform X1

      Conserved Domains (2) summary
      cd13385
      Location:1 → 125
      PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
      pfam00169
      Location:7 → 116
      PH; PH domain

    6. XM_005274648.2 → XP_005274705.1  GRB2-associated-binding protein 3 isoform X2

      See identical proteins and their annotated locations for XP_005274705.1

      UniProtKB/Swiss-Prot
      Q8WWW8
      Conserved Domains (1) summary
      cd13385
      Location:1 → 125
      PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain

    7. XM_006724804.2 → XP_006724867.1  GRB2-associated-binding protein 3 isoform X2

      See identical proteins and their annotated locations for XP_006724867.1

      UniProtKB/Swiss-Prot
      Q8WWW8
      Conserved Domains (1) summary
      cd13385
      Location:1 → 125
      PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain

    8. XM_047441833.1 → XP_047297789.1  GRB2-associated-binding protein 3 isoform X2

    RNA

    1. XR_938505.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152911675..152987994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326492.1 → XP_054182467.1  GRB2-associated-binding protein 3 isoform X5

    2. XM_054326493.1 → XP_054182468.1  GRB2-associated-binding protein 3 isoform X6

    3. XM_054326491.1 → XP_054182466.1  GRB2-associated-binding protein 3 isoform X4

    4. XM_054326490.1 → XP_054182465.1  GRB2-associated-binding protein 3 isoform X3

    5. XM_054326486.1 → XP_054182461.1  GRB2-associated-binding protein 3 isoform X1

    6. XM_054326488.1 → XP_054182463.1  GRB2-associated-binding protein 3 isoform X2

    7. XM_054326487.1 → XP_054182462.1  GRB2-associated-binding protein 3 isoform X2

    8. XM_054326489.1 → XP_054182464.1  GRB2-associated-binding protein 3 isoform X2

    RNA

    1. XR_008485454.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WWW8.1 GenPept UniProtKB/Swiss-Prot:Q8WWW8

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