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Aliases for GRB2 Gene

Aliases for GRB2 Gene

  • Growth Factor Receptor Bound Protein 2 2 3 5
  • Growth Factor Receptor-Bound Protein 2 2 3
  • SH2/SH3 Adapter GRB2 3 4
  • Protein Ash 3 4
  • ASH 3 4
  • Epidermal Growth Factor Receptor-Binding Protein GRB2 3
  • Growth Factor Receptor-Bound Protein 3 3
  • Abundant SRC Homology 3
  • Adapter Protein GRB2 4
  • EGFRBP-GRB2 3
  • MSTP084 3
  • Grb3-3 3
  • MST084 3
  • NCKAP2 3
  • HT027 3

External Ids for GRB2 Gene

Previous GeneCards Identifiers for GRB2 Gene

  • GC17M073313
  • GC17M076374
  • GC17M073779
  • GC17M073911
  • GC17M070825
  • GC17M068724

Summaries for GRB2 Gene

Entrez Gene Summary for GRB2 Gene

  • The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GRB2 Gene

GRB2 (Growth Factor Receptor Bound Protein 2) is a Protein Coding gene. Diseases associated with GRB2 include Wiskott-Aldrich Syndrome and Leukemia, Chronic Myeloid, Somatic. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and CTLA4 Signaling. GO annotations related to this gene include poly(A) RNA binding and protein kinase binding. An important paralog of this gene is GRAP.

UniProtKB/Swiss-Prot for GRB2 Gene

  • Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway.

  • Isoform 2 does not bind to phosphorylated epidermal growth factor receptor (EGFR) but inhibits EGF-induced transactivation of a RAS-responsive element. Isoform 2 acts as a dominant negative protein over GRB2 and by suppressing proliferative signals, may trigger active programmed cell death.

Gene Wiki entry for GRB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRB2 Gene

Genomics for GRB2 Gene

Regulatory Elements for GRB2 Gene

Enhancers for GRB2 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
GH17G075288 2.1 FANTOM5 Ensembl ENCODE dbSUPER 28.9 +112.1 112051 11.0 CREB3L1 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 GRB2 NUP85 SUMO2 CDK3 H3F3B TMEM94 ENSG00000267342 LLGL2 UNK TEN1
GH17G075334 1.9 FANTOM5 Ensembl ENCODE dbSUPER 24.5 +63.9 63891 14.4 HDGF PKNOX1 ARNT WRNIP1 SIN3A FEZF1 ZNF766 FOS TBX21 ZNF592 GRB2 LLGL2 MRPS7 NUP85 TMEM94 CASKIN2 TSEN54 MIF4GD MYO15B SMIM5
GH17G075311 2 FANTOM5 Ensembl ENCODE dbSUPER 18.9 +89.5 89524 10.0 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF416 ZNF263 SP3 NFYC TBX21 GRB2 UNK CDK3 MRPS7 NUP85 SUMO2 MIF4GD TEN1 RN7SL573P SLC25A19
GH17G075382 1.5 Ensembl ENCODE dbSUPER 20.3 +22.5 22495 2.2 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 ZNF121 SP5 GRB2 LLGL2 TMEM94 MIF4GD NUP85 ENSG00000264853 ENSG00000265342
GH17G075322 1.5 FANTOM5 ENCODE dbSUPER 19.1 +82.3 82330 1.4 PKNOX1 ARID4B SIN3A ZNF2 ZNF143 CAVIN1 REST TBX21 ZNF592 KAT8 GRB2 MRPS7 TMEM94 TSEN54 H3F3B SLC25A19 SAP30BP GGA3 SLC16A5 PIR47822
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GRB2 on UCSC Golden Path with GeneCards custom track

Promoters for GRB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098378 609 2601 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

Transcription factor binding sites by QIAGEN in the GRB2 gene promoter:

Genomic Location for GRB2 Gene

Chromosome:
17
Start:
75,318,076 bp from pter
End:
75,405,709 bp from pter
Size:
87,634 bases
Orientation:
Minus strand

Genomic View for GRB2 Gene

Genes around GRB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRB2 Gene

Proteins for GRB2 Gene

  • Protein details for GRB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62993-GRB2_HUMAN
    Recommended name:
    Growth factor receptor-bound protein 2
    Protein Accession:
    P62993
    Secondary Accessions:
    • P29354
    • Q14450
    • Q63057
    • Q63059

    Protein attributes for GRB2 Gene

    Size:
    217 amino acids
    Molecular mass:
    25206 Da
    Quaternary structure:
    • Associates (via SH2 domain) with activated EGF and PDGF receptors (tyrosine phosphorylated) (PubMed:10026169, PubMed:19836242). Interacts with PDGFRA (tyrosine phosphorylated); the interaction may be indirect (By similarity). Also associates to other cellular Tyr-phosphorylated proteins such as SIT1, IRS1, IRS4, SHC and LNK; probably via the concerted action of both its SH2 and SH3 domains (PubMed:8388384, PubMed:8491186, PubMed:9553137, PubMed:11433379). It also seems to interact with RAS in the signaling pathway leading to DNA synthesis. Interacts with SOS1 (PubMed:8493579, PubMed:7664271). Forms a complex with MUC1 and SOS1, through interaction of the SH3 domains with SOS1 and the SH2 domain with phosphorylated MUC1 (PubMed:7664271). Interacts with phosphorylated MET (PubMed:11063574, PubMed:11827484). Interacts with phosphorylated TOM1L1 (By similarity). Interacts with the phosphorylated C-terminus of SH2B2 (PubMed:9233773). Interacts with phosphorylated SIT1, LAX1, LAT, LAT2 and LIME1 upon TCR and/or BCR activation (By similarity) (PubMed:9489702, PubMed:12359715, PubMed:12486104, PubMed:12514734). Interacts with NISCH, PTPNS1 and REPS2 (PubMed:9062191, PubMed:9422736, PubMed:11912194). Interacts with syntrophin SNTA1 (By similarity). Interacts (via SH3 domains) with REPS1 (By similarity). Interacts (via SH3 domains) with PIK3C2B (PubMed:11533253). Interacts with CBL and CBLB (PubMed:10022120, PubMed:10086340). Interacts with AJUBA and CLNK (By similarity). Interacts (via SH2 domain) with TEK/TIE2 (tyrosine phosphorylated) (By similarity). Interacts with SHB, INPP5D/SHIP1, SKAP1 and SKAP2 (PubMed:8723348, PubMed:9108392, PubMed:9484780, PubMed:10942756, PubMed:12171928). Interacts with PTPN11 (By similarity). Interacts with PRNP (By similarity). Interacts with RALGPS1 (PubMed:10747847). Interacts with HCST (PubMed:16582911). Interacts with KDR (By similarity). Interacts with FLT1 (tyrosine-phosphorylated) (By similarity). Interacts with GAPT and PTPRE (PubMed:10980613, PubMed:18559951). Interacts (via SH2 domain) with KIF26A (PubMed:19914172). Interacts (via SH3 2) with GAB2 (PubMed:19523899). Interacts with ADAM15 (PubMed:18296648). Interacts with THEMIS2 (By similarity). Interacts (via SH2 domain) with AXL (phosphorylated) (PubMed:9178760, PubMed:19815557). Interacts (via SH2 domain) with KIT (phosphorylated) (PubMed:15526160, PubMed:16129412). Interacts with PTPRJ and BCR (PubMed:12475979, PubMed:15302586). Interacts with PTPN23 (PubMed:21179510). Interacts with FLT4 (tyrosine phosphorylated) (PubMed:15102829). Interacts with EPHB1 and SHC1; activates the MAPK/ERK cascade to regulate cell migration (PubMed:8798570, PubMed:12925710). Part of a complex including TNK2, GRB2, LTK and one receptor tyrosine kinase (RTK) such as AXL and PDGFRL, in which GRB2 promotes RTK recruitment by TNK2 (PubMed:9178760, PubMed:19815557). Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated) (PubMed:8262059). Interacts with ERBB4 (PubMed:10867024). Interacts with NTRK1 (phosphorylated upon ligand-binding) (PubMed:15488758). Interacts with PTK2/FAK1 (tyrosine phosphorylated) (PubMed:9148935). Interacts with PTK2B/PYK2 (tyrosine phosphorylated) (PubMed:20521079). Isoform 1 interacts with SCIMP (PubMed:21930792). Interacts (via SH3 domains) with GAREM1 isoform 1 (via proline-rich domain and tyrosine phosphorylated); the interaction occurs upon EGF stimulation (PubMed:19509291). Interacts with DAB2 (By similarity). Interacts with TESPA1 (PubMed:22561606). Interacts with PLCG1, LAT and THEMIS upon TCR activation in thymocytes; the association is weaker in the absence of TESPA1 (By similarity). Interacts with CD28 (PubMed:24098653). Interacts with RAB13; may recruit RAB13 to the leading edge of migrating endothelial cells where it can activate RHOA (By similarity). Interacts with ASAP3 (phosphorylated form) (PubMed:22027826). Interacts (via SH3 domain) with HEV ORF3 protein (PubMed:11518702). Interacts with HCV NS5A via its SH3 domains (PubMed:10318918). Interacts with herpes simplex virus 1 UL46 (PubMed:23946459). Interacts (via SH2 domain) with PTPRH (phosphorylated form) (By similarity). Interacts with PTPRO (phosphorylated form) (By similarity). Interacts with PTPRB (phosphorylated form) (By similarity).

    Three dimensional structures from OCA and Proteopedia for GRB2 Gene

    Alternative splice isoforms for GRB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRB2 Gene

Post-translational modifications for GRB2 Gene

  • Ubiquitination at isoforms=244, isoforms=156, and posLast=109109
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GRB2 (GRB2)

No data available for DME Specific Peptides for GRB2 Gene

Domains & Families for GRB2 Gene

Gene Families for GRB2 Gene

Protein Domains for GRB2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P62993

UniProtKB/Swiss-Prot:

GRB2_HUMAN :
  • The SH3 domains mediate interaction with RALGPS1 and SHB.
  • Belongs to the GRB2/sem-5/DRK family.
Domain:
  • The SH3 domains mediate interaction with RALGPS1 and SHB.
Family:
  • Belongs to the GRB2/sem-5/DRK family.
genes like me logo Genes that share domains with GRB2: view

Function for GRB2 Gene

Molecular function for GRB2 Gene

GENATLAS Biochemistry:
growth factor receptor bound protein 2,major CBL associated protein,homolog to Caenorhabditis elegans Sem5 gene and Drosophila Drk,STAR playing a key role in insulin signal transduction through connecting with IRS1 and IGFR5,and in mitogenic RAS signalic through interaction with SHC1
UniProtKB/Swiss-Prot Function:
Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway.
UniProtKB/Swiss-Prot Function:
Isoform 2 does not bind to phosphorylated epidermal growth factor receptor (EGFR) but inhibits EGF-induced transactivation of a RAS-responsive element. Isoform 2 acts as a dominant negative protein over GRB2 and by suppressing proliferative signals, may trigger active programmed cell death.

Gene Ontology (GO) - Molecular Function for GRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine binding IPI,IEA 20624904
GO:0003723 RNA binding IDA 22658674
GO:0004715 non-membrane spanning protein tyrosine kinase activity IBA --
GO:0005070 SH3/SH2 adaptor activity TAS 8253073
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
genes like me logo Genes that share ontologies with GRB2: view
genes like me logo Genes that share phenotypes with GRB2: view

Animal Models for GRB2 Gene

MGI Knock Outs for GRB2:

Animal Model Products

CRISPR Products

miRNA for GRB2 Gene

miRTarBase miRNAs that target GRB2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GRB2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GRB2 Gene

Localization for GRB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRB2 Gene

Nucleus. Cytoplasm. Endosome. Golgi apparatus.

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 GRB2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
endosome 5
golgi apparatus 3
cytoskeleton 2
endoplasmic reticulum 2
lysosome 1

Gene Ontology (GO) - Cellular Components for GRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 21179510
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA,IEA 21179510
GO:0005768 endosome IDA,IEA 21179510
genes like me logo Genes that share ontologies with GRB2: view

Pathways & Interactions for GRB2 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 Regulation of lipid metabolism Insulin signaling-generic cascades
4 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
5 Glioma
.47
genes like me logo Genes that share pathways with GRB2: view

Pathways by source for GRB2 Gene

Interacting Proteins for GRB2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000339007%0d%0a9606.ENSP00000401303%0d%0a9606.ENSP00000387699%0d%0a9606.ENSP00000354558%0d%0a9606.ENSP00000289902%0d%0a9606.ENSP00000426909%0d%0a
Selected Interacting proteins: P62993-GRB2_HUMAN ENSP00000339007 for GRB2 Gene via MINT STRING UniProtKB IID

Symbol External ID(s) Details
EGFR
SOS1
SHC1
GAB2
LAT

SIGNOR curated interactions for GRB2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007173 epidermal growth factor receptor signaling pathway TAS 1322798
GO:0007265 Ras protein signal transduction TAS 8253073
GO:0007267 cell-cell signaling TAS 8253073
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with GRB2: view

Drugs & Compounds for GRB2 Gene

(36) Drugs for GRB2 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pegademase bovine Approved Pharma Target, binder 0
4-[(10s,14s,18s)-18-(2-Amino-2-Oxoethyl)-14-(1-Naphthylmethyl)-8,17,20-Trioxo-7,16,19-Triazaspiro[5.14]Icos-11-En-10-Yl]Benzylphosphonic Acid Experimental Pharma Target 0
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(22) Additional Compounds for GRB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GRB2: view

Transcripts for GRB2 Gene

Unigene Clusters for GRB2 Gene

Growth factor receptor-bound protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GRB2

Alternative Splicing Database (ASD) splice patterns (SP) for GRB2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - - - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: - - - -
SP7: - - -

Relevant External Links for GRB2 Gene

GeneLoc Exon Structure for
GRB2
ECgene alternative splicing isoforms for
GRB2

Expression for GRB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GRB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRB2 Gene

This gene is overexpressed in Whole Blood (x5.9).

Protein differential expression in normal tissues from HIPED for GRB2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GRB2 Gene



Protein tissue co-expression partners for GRB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GRB2 Gene:

GRB2

SOURCE GeneReport for Unigene cluster for GRB2 Gene:

Hs.444356

Evidence on tissue expression from TISSUES for GRB2 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Blood(4.6)
  • Skin(4.6)
  • Kidney(2.8)
  • Liver(2.8)
  • Muscle(2.8)
  • Bone marrow(2.7)
  • Heart(2.6)
  • Adrenal gland(2.5)
  • Intestine(2.4)
  • Lymph node(2.4)
  • Pancreas(2.3)
  • Spleen(2.3)
  • Stomach(2)
genes like me logo Genes that share expression patterns with GRB2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRB2 Gene

Orthologs for GRB2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GRB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRB2 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia GRB2 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRB2 34 35
  • 94.78 (n)
cow
(Bos Taurus)
Mammalia GRB2 34 35
  • 93.86 (n)
mouse
(Mus musculus)
Mammalia Grb2 34 16 35
  • 92.17 (n)
rat
(Rattus norvegicus)
Mammalia Grb2 34
  • 92.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GRB2 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRB2 34 35
  • 87.86 (n)
lizard
(Anolis carolinensis)
Reptilia GRB2 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grb2 34
  • 80.8 (n)
zebrafish
(Danio rerio)
Actinopterygii grb2a 35
  • 94 (a)
OneToMany
grb2b 34 35
  • 82.33 (n)
wufb18e12 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011768 34
  • 63.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta drk 36 34 35
  • 61.54 (n)
worm
(Caenorhabditis elegans)
Secernentea sem-5 36 34 35
  • 60.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PIN3 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8309 35
  • 57 (a)
OneToMany
Species where no ortholog for GRB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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)

Evolution for GRB2 Gene

ENSEMBL:
Gene Tree for GRB2 (if available)
TreeFam:
Gene Tree for GRB2 (if available)

Paralogs for GRB2 Gene

Paralogs for GRB2 Gene

genes like me logo Genes that share paralogs with GRB2: view

Variants for GRB2 Gene

Sequence variations from dbSNP and Humsavar for GRB2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000028237 -- 75,377,736(+) ACCCT(C/G)TCTCT intron-variant
rs1000032693 -- 75,383,618(+) GCAGG(C/T)GGATC intron-variant
rs1000048987 -- 75,383,386(+) TAACA(A/G)CAGAT intron-variant
rs1000062288 -- 75,370,396(+) GTACC(A/G)CTTGT intron-variant
rs1000063433 -- 75,393,974(+) CAATG(A/G)CACAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GRB2 Gene

Variant ID Type Subtype PubMed ID
esv2716238 CNV deletion 23290073
esv3369141 CNV insertion 20981092
nsv1066312 CNV gain 25217958
nsv111943 CNV deletion 16902084
nsv1134676 CNV deletion 24896259
nsv1140206 CNV deletion 24896259
nsv479218 CNV novel sequence insertion 20440878
nsv510727 CNV deletion 20534489
nsv576027 CNV gain 21841781
nsv833541 CNV loss 17160897
nsv960529 CNV duplication 23825009

Variation tolerance for GRB2 Gene

Residual Variation Intolerance Score: 36.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRB2 Gene

Disorders for GRB2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GRB2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • wiskott syndrome
leukemia, chronic myeloid, somatic
  • leukemia, chronic myeloid
hypotropia
breast cancer
  • breast cancer, invasive ductal
prostate cancer
  • prostate cancer, hereditary, 5
- elite association - COSMIC cancer census association via MalaCards
Search GRB2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GRB2

Genetic Association Database (GAD)
GRB2
Human Genome Epidemiology (HuGE) Navigator
GRB2
Tumor Gene Database (TGDB):
GRB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRB2
genes like me logo Genes that share disorders with GRB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRB2 Gene

Publications for GRB2 Gene

  1. Distinct functions of natural ADAM-15 cytoplasmic domain variants in human mammary carcinoma. (PMID: 18296648) Zhong J.L. … Edwards D.R. (Mol. Cancer Res. 2008) 3 4 22 64
  2. Crystal structures of the SH2 domain of Grb2: highlight on the binding of a new high-affinity inhibitor. (PMID: 11827484) Nioche P. … Ducruix A. (J. Mol. Biol. 2002) 3 4 22 64
  3. Recruitment of the class II phosphoinositide 3-kinase C2beta to the epidermal growth factor receptor: role of Grb2. (PMID: 11533253) Wheeler M. … Domin J. (Mol. Cell. Biol. 2001) 3 4 22 64
  4. The gene structure of the human growth factor bound protein GRB2. (PMID: 10051406) Bochmann H. … Jaross W. (Genomics 1999) 2 3 4 64
  5. Characterization of insulin receptor substrate 4 in human embryonic kidney 293 cells. (PMID: 9553137) Fantin V.R. … Lavan B.E. (J. Biol. Chem. 1998) 3 4 22 64

Products for GRB2 Gene