Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GAB2 Gene

Aliases for GAB2 Gene

  • GRB2 Associated Binding Protein 2 2 3 5
  • Growth Factor Receptor Bound Protein 2-Associated Protein 2 3 4
  • Grb2-Associated Binder 2 2 3
  • Pp100 3 4
  • GRB2-Associated Binding Protein 2 3
  • GRB2-Associated Binder 2 4
  • KIAA0571 4

External Ids for GAB2 Gene

Previous GeneCards Identifiers for GAB2 Gene

  • GC11M080253
  • GC11M079465
  • GC11M078149
  • GC11M077652
  • GC11M077603
  • GC11M077926
  • GC11M074223

Summaries for GAB2 Gene

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 cellular congenital mesoblastic nephroma and louse-borne relapsing fever. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include phosphatidylinositol-3,4,5-trisphosphate binding and transmembrane receptor protein tyrosine kinase adaptor activity. An important paralog of this gene is GAB4.

UniProtKB/Swiss-Prot for GAB2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAB2 Gene

Genomics for GAB2 Gene

Regulatory Elements for GAB2 Gene

Promoters for GAB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GAB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GAB2 Gene

Chromosome:
11
Start:
78,215,290 bp from pter
End:
78,418,348 bp from pter
Size:
203,059 bases
Orientation:
Minus strand

Genomic View for GAB2 Gene

Genes around GAB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAB2 Gene

Proteins for GAB2 Gene

  • Protein details for GAB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQC2-GAB2_HUMAN
    Recommended name:
    GRB2-associated-binding protein 2
    Protein Accession:
    Q9UQC2
    Secondary Accessions:
    • A2RRM2
    • A6NEW9
    • A7MD36
    • O60317

    Protein attributes for GAB2 Gene

    Size:
    676 amino acids
    Molecular mass:
    74458 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAA25497.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GAB2 Gene

    Alternative splice isoforms for GAB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAB2 Gene

Proteomics data for GAB2 Gene at MOPED

Post-translational modifications for GAB2 Gene

  • Dephosphorylated by PTPN11.
  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GAB2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GAB2 (GAB2)

No data available for DME Specific Peptides for GAB2 Gene

Domains & Families for GAB2 Gene

Gene Families for GAB2 Gene

Protein Domains for GAB2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GAB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UQC2

UniProtKB/Swiss-Prot:

GAB2_HUMAN :
  • The SH3-binding motifs mediate interaction with SHC1 and GRB2.
  • Belongs to the GAB family.
Domain:
  • The SH3-binding motifs mediate interaction with SHC1 and GRB2.
  • The PH domain mediates phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,4-bisphosphate binding.
  • Contains 1 PH domain.
Family:
  • Belongs to the GAB family.
genes like me logo Genes that share domains with GAB2: view

Function for GAB2 Gene

Molecular function for GAB2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for GAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity IDA 19172738
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding ISS --
genes like me logo Genes that share ontologies with GAB2: view
genes like me logo Genes that share phenotypes with GAB2: view

Animal Models for GAB2 Gene

MGI Knock Outs for GAB2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GAB2 Gene

Localization for GAB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAB2 Gene

Cytoplasm. Cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GAB2 Gene COMPARTMENTS Subcellular localization image for GAB2 gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 3
endoplasmic reticulum 2

No data available for Gene Ontology (GO) - Cellular Components for GAB2 Gene

Pathways & Interactions for GAB2 Gene

genes like me logo Genes that share pathways with GAB2: view

SIGNOR curated interactions for GAB2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043306 positive regulation of mast cell degranulation ISS --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with GAB2: view

Drugs & Compounds for GAB2 Gene

(4) Drugs for GAB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for GAB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GAB2: view

Transcripts for GAB2 Gene

Unigene Clusters for GAB2 Gene

GRB2-associated binding protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GAB2 Gene

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: - - -
SP6: -
SP7:

Relevant External Links for GAB2 Gene

GeneLoc Exon Structure for
GAB2
ECgene alternative splicing isoforms for
GAB2

Expression for GAB2 Gene

mRNA expression in normal human tissues for GAB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GAB2 Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for GAB2 Gene

This gene is overexpressed in Fetal Brain (40.9) and Placenta (23.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GAB2 Gene



SOURCE GeneReport for Unigene cluster for GAB2 Gene Hs.429434

genes like me logo Genes that share expression patterns with GAB2: view

Protein tissue co-expression partners for GAB2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GAB2 Gene

Orthologs for GAB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GAB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAB2 35
  • 99.46 (n)
  • 99.85 (a)
GAB2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GAB2 35
  • 88.09 (n)
  • 92.79 (a)
dog
(Canis familiaris)
Mammalia GAB2 35
  • 91.17 (n)
  • 94.53 (a)
GAB2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gab2 16
Gab2 35
  • 89.02 (n)
  • 94.11 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 46 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gab2 35
  • 88.07 (n)
  • 93.5 (a)
chicken
(Gallus gallus)
Aves GAB2 35
  • 74.8 (n)
  • 79.17 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gab2 35
  • 69.67 (n)
  • 73.76 (a)
zebrafish
(Danio rerio)
Actinopterygii gab2 36
  • 62 (a)
OneToMany
gab2 35
  • 65.37 (n)
  • 67.6 (a)
fruit fly
(Drosophila melanogaster)
Insecta dos 36
  • 13 (a)
OneToMany
Species with no ortholog for GAB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GAB2 Gene

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

Paralogs for GAB2 Gene

Paralogs for GAB2 Gene

(2) SIMAP similar genes for GAB2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GAB2: view

Variants for GAB2 Gene

Sequence variations from dbSNP and Humsavar for GAB2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs2279374 -, - 78,226,641(-) CACTC(C/T)TGGGG nc-transcript-variant, reference, missense
rs484868 -- 78,228,151(+) GATTT(A/C)TAAGG intron-variant
rs478302 -- 78,254,037(-) CTCAA(A/G)GCAGG intron-variant
rs499741 -- 78,238,540(-) TTTTT(G/T)TTAAT intron-variant
rs541159 -- 78,225,622(-) AACTG(A/T)GATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GAB2 Gene

Variant ID Type Subtype PubMed ID
nsv520740 CNV Gain 19592680
nsv527066 CNV Gain 19592680
nsv510261 CNV Loss 20534489

Variation tolerance for GAB2 Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.74; 57.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GAB2 Gene

HapMap Linkage Disequilibrium report
GAB2
Human Gene Mutation Database (HGMD)
GAB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAB2 Gene

Disorders for GAB2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GAB2 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
cellular congenital mesoblastic nephroma
louse-borne relapsing fever
  • relapsing fever, louse-borne
leukemia, chronic myeloid, somatic
  • chronic myeloid leukemia
leukemia, acute myelomonocytic, somatic, somatic
  • leukemia, juvenile myelomonocytic, somatic
- elite association - COSMIC cancer census association via MalaCards
Search GAB2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GAB2

Genetic Association Database (GAD)
GAB2
Human Genome Epidemiology (HuGE) Navigator
GAB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GAB2
genes like me logo Genes that share disorders with GAB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GAB2 Gene

Publications for GAB2 Gene

  1. Gab-family adapter proteins act downstream of cytokine and growth factor receptors and T- and B-cell antigen receptors. (PMID: 10068651) Nishida K. … Hirano T. (Blood 1999) 2 3 4 23 67
  2. Gab2, a new pleckstrin homology domain-containing adapter protein, acts to uncouple signaling from ERK kinase to Elk-1. (PMID: 10391903) Zhao C. … Feng G.S. (J. Biol. Chem. 1999) 2 3 23
  3. Non-redundant roles of the Gab1 and Gab2 scaffolding adapters in VEGF-mediated signalling, migration, and survival of endothelial cells. (PMID: 19233262) Caron C. … Royal I. (Cell. Signal. 2009) 3 23
  4. GAB2 is not associated with late-onset Alzheimer's disease in Japanese. (PMID: 18854865) Miyashita A. … Kuwano R. (Eur. J. Hum. Genet. 2009) 3 23
  5. Gab2-mediated signaling promotes melanoma metastasis. (PMID: 19342374) Horst B. … Celebi J.T. (Am. J. Pathol. 2009) 3 23

Products for GAB2 Gene

Sources for GAB2 Gene

Back to Top

Content