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Aliases for GAB3 Gene

Aliases for GAB3 Gene

  • GRB2 Associated Binding Protein 3 2 3 5
  • Growth Factor Receptor Bound Protein 2-Associated Protein 3 4
  • Gab3 Scaffolding Protein 2
  • GRB2-Associated Binder 3 4
  • DOS/Gab Family Member 3 2

External Ids for GAB3 Gene

Previous GeneCards Identifiers for GAB3 Gene

  • GC0XM147966
  • GC0XM150284
  • GC0XM151488
  • GC0XM152371
  • GC0XM153467
  • GC0XM153556
  • GC0XM153903
  • GC0XM142447

Summaries for GAB3 Gene

Entrez Gene Summary for GAB3 Gene

  • 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]

GeneCards Summary for GAB3 Gene

GAB3 (GRB2 Associated Binding Protein 3) is a Protein Coding gene. Among its related pathways are p70S6K Signaling and MAPK Signaling: Mitogen Stimulation Pathway. An important paralog of this gene is GAB2.

Additional gene information for GAB3 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAB3 Gene

Genomics for GAB3 Gene

Regulatory Elements for GAB3 Gene

Enhancers for GAB3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH154723 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.1 +20.2 20159 16 FOXA2 ZFP64 YY1 FOS RUNX3 ZC3H11A JUNB REST ZNF623 ZNF518A DKC1 SNORA70 HCFC1 F8A1 SNORA56 EMD GAB3 PLXNA3 F8A2 SLC10A3
GH0XH154717 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.7 +32.9 32869 3 HDGF PKNOX1 ARNT GATA2 ATF7 RUNX3 ZNF518A SMARCA4 PBX2 HMBOX1 F8A1 GAB3 F8A2 MPP1 IKBKG EMD DNASE1L1 TAZ TEX28 OR3B1P
GH0XH154796 2 FANTOM5 Ensembl ENCODE dbSUPER 8.4 -49.8 -49818 10 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF766 F8A1 DKC1 SNORA56 F8A2 SNORA70 SNORA36A IKBKG TMLHE HCFC1 PLXNA3
GH0XH154540 1.5 FANTOM5 ENCODE 10.9 +209.2 209246 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 FOS FAM3A IKBKG F8A1 F8A2 GAB3 MECP2 MPP1 EMD DNASE1L1 IRAK1
GH0XH154711 1.1 Ensembl ENCODE dbSUPER 14.7 +39.0 39027 2 PKNOX1 CBFB JUN JUNB JUND ZNF776 ETV6 ATF7 FOS RUNX3 GAB3 DKC1 HCFC1 ENSG00000225393 TMLHE-AS1 TMLHE OR3B1P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GAB3 on UCSC Golden Path with GeneCards custom track

Promoters for GAB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249703 883 1801 HDAC1 TBP RB1 ARNT GATA2 SCRT2 ZNF391 ATF7 ZBTB2 SMAD5

Genomic Location for GAB3 Gene

Chromosome:
X
Start:
154,675,249 bp from pter
End:
154,751,583 bp from pter
Size:
76,335 bases
Orientation:
Minus strand

Genomic View for GAB3 Gene

Genes around GAB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAB3 Gene

Proteins for GAB3 Gene

  • Protein details for GAB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWW8-GAB3_HUMAN
    Recommended name:
    GRB2-associated-binding protein 3
    Protein Accession:
    Q8WWW8
    Secondary Accessions:
    • A6NHF8
    • E9PB44

    Protein attributes for GAB3 Gene

    Size:
    586 amino acids
    Molecular mass:
    65589 Da
    Quaternary structure:
    • Interacts with PIK3R/p85, SHP2 and GRAP2/MONA (By similarity). May interact with Grb2.
    SequenceCaution:
    • Sequence=AK307927; Type=Erroneous termination; Positions=587; Note=Translated as stop.; Evidence={ECO:0000305};

    Alternative splice isoforms for GAB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAB3 Gene

Post-translational modifications for GAB3 Gene

  • Phosphorylated on tyrosine residue(s) after macrophage colony-stimulating factor (M-CSF) receptor stimulation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GAB3 Gene

Domains & Families for GAB3 Gene

Gene Families for GAB3 Gene

Protein Domains for GAB3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8WWW8

UniProtKB/Swiss-Prot:

GAB3_HUMAN :
  • Belongs to the GAB family.
Family:
  • Belongs to the GAB family.
genes like me logo Genes that share domains with GAB3: view

Function for GAB3 Gene

Phenotypes From GWAS Catalog for GAB3 Gene

genes like me logo Genes that share phenotypes with GAB3: view

Animal Models for GAB3 Gene

MGI Knock Outs for GAB3:

Animal Model Products

CRISPR Products

miRNA for GAB3 Gene

miRTarBase miRNAs that target GAB3

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GAB3 Gene

Localization for GAB3 Gene

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 GAB3 gene
Compartment Confidence
nucleus 2
cytosol 2
endoplasmic reticulum 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for GAB3 Gene

Pathways & Interactions for GAB3 Gene

genes like me logo Genes that share pathways with GAB3: view

Pathways by source for GAB3 Gene

1 R&D Systems pathway for GAB3 Gene
1 Qiagen pathway for GAB3 Gene

Gene Ontology (GO) - Biological Process for GAB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030225 macrophage differentiation IEA --
genes like me logo Genes that share ontologies with GAB3: view

No data available for SIGNOR curated interactions for GAB3 Gene

Drugs & Compounds for GAB3 Gene

No Compound Related Data Available

Transcripts for GAB3 Gene

Unigene Clusters for GAB3 Gene

GRB2-associated binding protein 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GAB3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -
SP3: -
SP4: - -

Relevant External Links for GAB3 Gene

GeneLoc Exon Structure for
GAB3
ECgene alternative splicing isoforms for
GAB3

Expression for GAB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GAB3 Gene

mRNA differential expression in normal tissues according to GTEx for GAB3 Gene

This gene is overexpressed in Whole Blood (x8.4) and Spleen (x4.7).

Protein differential expression in normal tissues from HIPED for GAB3 Gene

This gene is overexpressed in Platelet (56.2) and CD8 Tcells (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GAB3 Gene



Protein tissue co-expression partners for GAB3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GAB3 Gene:

GAB3

SOURCE GeneReport for Unigene cluster for GAB3 Gene:

Hs.496982

Evidence on tissue expression from TISSUES for GAB3 Gene

  • Spleen(4.2)
  • Blood(4.1)
  • Lymph node(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with GAB3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAB3 Gene

Orthologs for GAB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GAB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAB3 33 34
  • 99.77 (n)
mouse
(Mus musculus)
Mammalia Gab3 33 16 34
  • 82.76 (n)
cow
(Bos Taurus)
Mammalia GAB3 33 34
  • 82.59 (n)
dog
(Canis familiaris)
Mammalia GAB3 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAB3 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAB3 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAB3 33 34
  • 70.4 (n)
lizard
(Anolis carolinensis)
Reptilia GAB3 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gab3 33
  • 65.01 (n)
zebrafish
(Danio rerio)
Actinopterygii GAB3 (2 of 2) 34
  • 62 (a)
OneToMany
si:ch73-92i20.1 33
  • 53.06 (n)
GAB3 (1 of 2) 34
  • 37 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dos 34
  • 13 (a)
OneToMany
Species where no ortholog for GAB3 was found in the sources mined by GeneCards:
  • 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)
  • rat (Rattus norvegicus)
  • 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 GAB3 Gene

ENSEMBL:
Gene Tree for GAB3 (if available)
TreeFam:
Gene Tree for GAB3 (if available)

Paralogs for GAB3 Gene

Paralogs for GAB3 Gene

(4) SIMAP similar genes for GAB3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with GAB3: view

Variants for GAB3 Gene

Sequence variations from dbSNP and Humsavar for GAB3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000060258 -- 154,724,907(+) CCCCC(A/C)AATTC intron-variant
rs1000255046 -- 154,747,548(+) GTAAT(A/C)CCAGC intron-variant
rs1000255455 -- 154,701,967(+) AATCC(C/T)TACCA intron-variant
rs1000436453 -- 154,691,439(+) AAAAA(A/G)AAAAA intron-variant
rs1000561373 -- 154,731,572(+) AATGG(C/T)CAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GAB3 Gene

Variant ID Type Subtype PubMed ID
dgv2544e212 CNV loss 25503493
dgv2545e212 CNV gain 25503493
esv33784 CNV gain+loss 17666407
esv3575044 CNV loss 25503493
nsv518228 CNV gain 19592680
nsv521523 CNV gain 19592680
nsv953709 CNV duplication 24416366

Variation tolerance for GAB3 Gene

Residual Variation Intolerance Score: 38.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GAB3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAB3 Gene

Disorders for GAB3 Gene

Relevant External Links for GAB3

Genetic Association Database (GAD)
GAB3
Human Genome Epidemiology (HuGE) Navigator
GAB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GAB3

No disorders were found for GAB3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GAB3 Gene

Publications for GAB3 Gene

  1. Gab3, a new DOS/Gab family member, facilitates macrophage differentiation. (PMID: 11739737) Wolf I … Rohrschneider LR (Molecular and cellular biology 2002) 2 3 4 60
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  3. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. (PMID: 19430480) Barrett JC … Type 1 Diabetes Genetics Consortium (Nature genetics 2009) 3 45 60
  4. Gab3 is required for human colorectal cancer cell proliferation. (PMID: 28115166) Xiang S … Ma J (Biochemical and biophysical research communications 2017) 3 60
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 60

Products for GAB3 Gene

Sources for GAB3 Gene

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