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 ... See more...

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-Binding Protein 2 3 4
  • Grb2-Associated Binder 2 2 3
  • KIAA0571 2 4
  • Pp100 3 4
  • GRB2-Associated Binder 2 4
  • GAB2 5

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 Alzheimer's Disease 1 and Leukemia, Chronic Myeloid. Among its related pathways are Neuroscience and GDNF-Family Ligands and Receptor Interactions. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAB2 Gene

Genomics for GAB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GAB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J078415 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 624.9 +0.2 151 6.7 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 IKZF1 ZNF692 POLR2A GAB2 NARS2 ENSG00000254649 KCTD21-AS1 ENSG00000254420 USP35
GH11J078311 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 610.7 +106.3 106281 0.6 RXRB SP1 RUNX3 FOXA2 YY1 GABPA ZBTB33 JUND GATA3 ZNF395 GAB2 ENSG00000254649 NARS2 ENSG00000254420 HSALNG0085976 LOC105369402 USP35
GH11J078341 Promoter/Enhancer 0.5 EPDnew dbSUPER 610.7 +76.4 76434 0.1 GAB2 ENSG00000254649 ENSG00000254420 L13714-065 USP35
GH11J078281 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 35.6 +130.1 130148 13.2 CEBPG GATAD2A HNRNPL ATF7 TFE3 LEF1 SOX13 IKZF1 NFKBIZ RCOR2 GAB2 INTS4 LINC02728 ENSG00000254420 ENSG00000254649 RPL21P95 NARS2 ENSG00000255449 AAMDC KCTD21
GH11J078377 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.6 +38.0 37977 5.7 IKZF1 JUND FOXA1 PKNOX1 DPF2 HDAC1 TCF12 EP300 MGA CBX3 lnc-USP35-19 GAB2 ENSG00000254420 NARS2 ENSG00000254459 ZNF75CP USP35
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAB2

Top Transcription factor binding sites by QIAGEN in the GAB2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • HSF2
  • Nkx2-5
  • SRF
  • SRF (504 AA)

Genomic Locations for GAB2 Gene

Genomic Locations for GAB2 Gene
chr11:78,215,290-78,418,348
(GRCh38/hg38)
Size:
203,059 bases
Orientation:
Minus strand
chr11:77,926,336-78,129,394
(GRCh37/hg19)
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=Extended N-terminus.; 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

Post-translational modifications for GAB2 Gene

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

Other Protein References for GAB2 Gene

No data available for DME Specific Peptides for GAB2 Gene

Domains & Families for GAB2 Gene

Gene Families for GAB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GAB2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
ProtoNet:

Suggested Antigen Peptide Sequences for GAB2 Gene

GenScript: Design optimal peptide antigens:
  • pp100 (GAB2_HUMAN)

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.
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.

Phenotypes From GWAS Catalog for GAB2 Gene

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:0005515 protein binding IPI 15170389
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding ISS --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAB2

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAB2 gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 19172738
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,IDA 19172738
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GAB2: view

Pathways & Interactions for GAB2 Gene

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

Pathways by source for GAB2 Gene

2 Sino Biological pathways for GAB2 Gene
6 GeneGo (Thomson Reuters) pathways for GAB2 Gene
  • Development Flt3 signaling
  • Development GDNF family signaling
  • Development Neurotrophin family signaling
  • Immune response Fc epsilon RI pathway
  • Immune response ICOS pathway in T-helper cell
1 R&D Systems pathway for GAB2 Gene
5 Qiagen pathways for GAB2 Gene
  • Akt Signaling
  • FLT3 Signaling
  • ICos-ICosL Pathway in T-Helper Cell
  • Molecular Mechanisms of Cancer
  • p70S6K Signaling
2 Cell Signaling Technology pathways for GAB2 Gene
1 GeneTex pathway for GAB2 Gene

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:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0007411 axon guidance TAS --
GO:0008284 positive regulation of cell proliferation IDA 19172738
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0030316 osteoclast differentiation IMP 15750601
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

mRNA/cDNA for GAB2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAB2

Clone Products

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

Expression for GAB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for GAB2 Gene



Protein tissue co-expression partners for GAB2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAB2

SOURCE GeneReport for Unigene cluster for GAB2 Gene:

Hs.429434

Evidence on tissue expression from TISSUES for GAB2 Gene

  • Nervous system(4.7)
  • Blood(2.7)
  • Bone marrow(2.6)
  • Spleen(2.5)
  • Heart(2.5)
  • Skin(2.5)
  • Lung(2.3)
  • Kidney(2.2)
  • Lymph node(2.2)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with GAB2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GAB2 30 31
  • 91.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gab2 30 17
  • 89.02 (n)
Cow
(Bos Taurus)
Mammalia GAB2 30
  • 88.09 (n)
Rat
(Rattus norvegicus)
Mammalia Gab2 30
  • 88.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 86 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 46 (a)
OneToMany
Chicken
(Gallus gallus)
Aves GAB2 30
  • 74.8 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 76 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gab2 30
  • 69.67 (n)
Zebrafish
(Danio rerio)
Actinopterygii gab2 30 31
  • 65.37 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta dos 31
  • 13 (a)
OneToMany
Species where no ortholog for GAB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GAB2: view image

Paralogs for GAB2 Gene

Paralogs for GAB2 Gene

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

  • GAB2_HUMAN
  • E9PJ26_HUMAN
  • E9PJE2_HUMAN
genes like me logo Genes that share paralogs with GAB2: view

Variants for GAB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAB2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
713425 Benign: not provided 78,219,281(-) G/A SYNONYMOUS_VARIANT
718663 Benign: not provided 78,226,722(-) G/A MISSENSE_VARIANT
722439 Benign: not provided 78,222,097(-) G/A INTRON_VARIANT
776895 Benign: not provided 78,250,373(-) C/A MISSENSE_VARIANT
787094 Benign: not provided 78,219,356(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GAB2 Gene

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

Variant ID Type Subtype PubMed ID
dgv1235n100 CNV gain 25217958
esv3626899 CNV loss 21293372
nsv1035930 CNV loss 25217958
nsv1036793 CNV gain 25217958
nsv1112611 CNV deletion 24896259
nsv510261 OTHER sequence alteration 20534489
nsv520740 CNV gain 19592680
nsv527066 CNV gain 19592680

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)

Additional Variant Information for GAB2 Gene

Human Gene Mutation Database (HGMD)
GAB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAB2

SNP Genotyping and Copy Number Assay Products

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

Disorders for GAB2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
alzheimer's disease 1
  • alzheimer's disease 1, early onset
leukemia, chronic myeloid
  • cml
juvenile myelomonocytic leukemia
  • jmml
- elite association - COSMIC cancer census association via MalaCards
Search GAB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GAB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  2. GAB2 is not associated with late-onset Alzheimer's disease in Japanese. (PMID: 18854865) Miyashita A … Kuwano R (European journal of human genetics : EJHG 2009) 3 23 41
  3. Distinct binding modes of two epitopes in Gab2 that interact with the SH3C domain of Grb2. (PMID: 19523899) Harkiolaki M … Feller SM (Structure (London, England : 1993) 2009) 3 4 23
  4. Phosphorylation-dependent binding of 14-3-3 terminates signalling by the Gab2 docking protein. (PMID: 19172738) Brummer T … Daly RJ (The EMBO journal 2008) 3 4 23
  5. The molecular scaffold Gab2 is a crucial component of RANK signaling and osteoclastogenesis. (PMID: 15750601) Wada T … Penninger JM (Nature medicine 2005) 3 4 23

Products for GAB2 Gene

  • Signalway Proteins for GAB2

Sources for GAB2 Gene