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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]
GRB2 (Growth Factor Receptor Bound Protein 2) is a Protein Coding gene. Diseases associated with GRB2 include Hepatitis C and Hepatitis E. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is GRAP.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001784 | phosphotyrosine residue binding | IPI | 20624904 |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005070 | SH3/SH2 adaptor activity | TAS | -- |
GO:0005154 | epidermal growth factor receptor binding | IPI | 12577067 |
GO:0005168 | neurotrophin TRKA receptor binding | IPI | 15488758 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 21179510 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 21179510 |
GO:0005768 | endosome | IEA,IDA | 21179510 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Downstream signaling of activated FGFR2 | ||
3 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Regulation of lipid metabolism Insulin signaling-generic cascades
.59
Translation Insulin regulation of translation
.59
Transcription Receptor-mediated HIF regulation
.51
Translation Regulation of EIF2 activity
.47
Translation Regulation of EIF4F activity
.44
Development CNTF receptor signaling
.43
|
Cell adhesion PLAU signaling
.35
Development Growth hormone signaling via PI3K/AKT and MAPK cascades
.34
|
4 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways |
Immune response IL-9 signaling pathway
.42
Development Thrombopoietin-regulated cell processes
.38
|
|
5 | IL-2 Pathway |
ErbB Family Pathway
.59
ErbB4 Pathway
.59
Prolactin Signaling
.54
Thrombopoietin Pathway
.51
|
ErbB2-ErbB3 Heterodimers
.49
IL-2 Pathway
.48
TREM1 Pathway
.43
IL-4 Pathway
.34
|
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Pegademase | 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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||
SP7: | - | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GRB2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GRB2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GRB2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GRB2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Grb2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Grb2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | GRB2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GRB2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GRB2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | grb2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | grb2a 31 |
|
OneToMany | |
grb2b 30 31 |
|
OneToMany | |||
wufb18e12 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011768 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | drk 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sem-5 30 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PIN3 33 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8309 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
778748 | Benign: not provided | 75,325,960(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hepatitis c |
|
|
hepatitis e |
|
|