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

Gene ID: 139716, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154675249..154751566, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152911675..152987994, complement)
105.20220307 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
  • 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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Related articles in PubMed

  1. High expression of GRB2 associated binding protein 3 mRNA predicts positive prognosis in melanoma. Li C, et al. Melanoma Res, 2023 Feb 1. PMID 36545920
  2. Identification of Grb2-associated binding protein 3 expression to predict clinical outcomes and immunotherapeutic responses in lung adenocarcinoma. Wang N, et al. J Biochem Mol Toxicol, 2022 Oct. PMID 35822560
  3. Gab docking proteins in cardiovascular disease, cancer, and inflammation. Nakaoka Y, et al. Int J Inflam, 2013. PMID 23431498, Free PMC Article
  4. Grb2-associated binding (Gab) proteins in hematopoietic and immune cell biology. Vaughan TY, et al. Am J Blood Res, 2011. PMID 22163099, Free PMC Article
  5. The multiple function of Grb2 associated binder (Gab) adaptor/scaffolding protein in immune cell signaling. Sármay G, et al. Immunol Lett, 2006 Apr 15. PMID 16386802

See all (21) citations in PubMed

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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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
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)

Genotypes

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_2023_10

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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