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

Gene ID: 9846, updated on 11-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (78215293..78417820, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (78148579..78351115, complement)
105.20220307 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: 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. Gab2 promotes acute myeloid leukemia growth and migration through the SHP2-Erk-CREB signaling pathway. Gong R, et al. J Leukoc Biol, 2022 Oct. PMID 35322464
  2. MicroRNA‑218 inhibits tumor angiogenesis of human renal cell carcinoma by targeting GAB2. Mu L, et al. Oncol Rep, 2020 Nov. PMID 32901879, Free PMC Article
  3. Gab2 Ablation Reverses the Stemness of HER2-Overexpressing Breast Cancer Cells. Zhang P, et al. Cell Physiol Biochem, 2018. PMID 30326469
  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 Amplification in Squamous Cell Lung Cancer of Non-Smokers. Park YR, et al. J Korean Med Sci, 2017 Nov. PMID 28960030, Free PMC Article

See all (175) 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)

Genotypes

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_2023_10

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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