Grb2
Encyclopedia
Growth factor receptor-bound protein 2 also known as Grb2 is an adaptor protein
Adaptor protein
Signal transducing adaptor proteins are proteins which are accessory to main proteins in a signal transduction pathway. These proteins tend to lack any intrinsic enzymatic activity themselves but instead mediate specific protein–protein interactions that drive the formation of protein complexes...

 involved in signal transduction
Signal transduction
Signal transduction occurs when an extracellular signaling molecule activates a cell surface receptor. In turn, this receptor alters intracellular molecules creating a response...

/cell communication. In humans, the GRB2 protein is encoded by the GRB2 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

.

The protein encoded by this gene binds receptors such as the epidermal growth factor receptor
Epidermal growth factor receptor
The epidermal growth factor receptor is the cell-surface receptor for members of the epidermal growth factor family of extracellular protein ligands...

 and contains one SH2 domain
SH2 domain
The SH2 domain is a structurally conserved protein domain contained within the Src oncoprotein and in many other intracellular signal-transducing proteins...

 and two SH3 domain
SH3 domain
The SRC Homology 3 Domain is a small protein domain of about 60 amino acids residues first identified as a conserved sequence in the viral adaptor protein v-Crk and the non-catalytic parts of enzymes such as phospholipase and several cytoplasmic tyrosine kinases such as Abl and Src...

s. Its two SH3 domains direct complex formation with proline
Proline
Proline is an α-amino acid, one of the twenty DNA-encoded amino acids. Its codons are CCU, CCC, CCA, and CCG. It is not an essential amino acid, which means that the human body can synthesize it. It is unique among the 20 protein-forming amino acids in that the α-amino group is secondary...

-rich regions of other proteins, and its SH2 domain binds tyrosine
Tyrosine
Tyrosine or 4-hydroxyphenylalanine, is one of the 22 amino acids that are used by cells to synthesize proteins. Its codons are UAC and UAU. It is a non-essential amino acid with a polar side group...

 phosphorylated
Phosphorylation
Phosphorylation is the addition of a phosphate group to a protein or other organic molecule. Phosphorylation activates or deactivates many protein enzymes....

 sequences. This gene is similar to the sem-5 gene of Caenorhabditis elegans
Caenorhabditis elegans
Caenorhabditis elegans is a free-living, transparent nematode , about 1 mm in length, which lives in temperate soil environments. Research into the molecular and developmental biology of C. elegans was begun in 1974 by Sydney Brenner and it has since been used extensively as a model...

, which is involved in the signal transduction pathway. Two alternatively spliced
Alternative splicing
Alternative splicing is a process by which the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA splicing...

 transcript variants encoding different isoforms
Protein isoform
A protein isoform is any of several different forms of the same protein. Different forms of a protein may be produced from related genes, or may arise from the same gene by alternative splicing. A large number of isoforms are caused by single-nucleotide polymorphisms or SNPs, small genetic...

 have been found for this gene.

Function and expression

Grb2 is widely expressed and is essential for multiple cellular
Cell (biology)
The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....

 functions. Inhibition of Grb2 function impairs developmental processes in various organisms and blocks transformation and proliferation of various cell types, and so it is not surprising that a targeted gene disruption of Grb2 in mouse is lethal at an early embryo
Embryo
An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination...

nic stage. Grb2 is best known for its ability to link the epidermal growth factor receptor
Epidermal growth factor receptor
The epidermal growth factor receptor is the cell-surface receptor for members of the epidermal growth factor family of extracellular protein ligands...

 tyrosine kinase
Tyrosine kinase
A tyrosine kinase is an enzyme that can transfer a phosphate group from ATP to a protein in a cell. It functions as an "on" or "off" switch in many cellular functions....

 to the activation of Ras and its downstream kinases, ERK1,2
Mitogen-activated protein kinase
Mitogen-activated protein kinases are serine/threonine-specific protein kinases that respond to extracellular stimuli and regulate various cellular activities, such as gene expression, mitosis, differentiation, proliferation, and cell survival/apoptosis.-Activation:MAP kinases are activated...

. Grb2 is composed of an SH2 domain
SH2 domain
The SH2 domain is a structurally conserved protein domain contained within the Src oncoprotein and in many other intracellular signal-transducing proteins...

 flanked on each side by an SH3 domain
SH3 domain
The SRC Homology 3 Domain is a small protein domain of about 60 amino acids residues first identified as a conserved sequence in the viral adaptor protein v-Crk and the non-catalytic parts of enzymes such as phospholipase and several cytoplasmic tyrosine kinases such as Abl and Src...

. Grb2 has two closely related proteins with similar domain organizations, Gads
GRAP2
GRB2-related adapter protein 2 is a protein that in humans is encoded by the GRAP2 gene.-Interactions:GRAP2 has been shown to interact with CD28, STAMBP, CCNDBP1, Linker of activated T cells, Lymphocyte cytosolic protein 2 and MAP4K1....

 and Grap
GRAP
GRB2-related adapter protein is a protein that in humans is encoded by the GRAP gene.This gene encodes a member of the GRB2/Sem5 /Drk family. This member functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains...

. Gads and Grap are expressed specifically in hematopoietic cells and function in the coordination of tyrosine kinase
Tyrosine kinase
A tyrosine kinase is an enzyme that can transfer a phosphate group from ATP to a protein in a cell. It functions as an "on" or "off" switch in many cellular functions....

 mediated signal transduction
Signal transduction
Signal transduction occurs when an extracellular signaling molecule activates a cell surface receptor. In turn, this receptor alters intracellular molecules creating a response...

.

Domains

The SH2 domain
SH2 domain
The SH2 domain is a structurally conserved protein domain contained within the Src oncoprotein and in many other intracellular signal-transducing proteins...

 of Grb2 binds to phosphorylated tyrosine-containing peptides on receptors or scaffold proteins with a preference for pY-X-N-X, where X is generally a hydrophobic residue such as valine (see The SH2 Website).

The N-terminal SH3 domain
SH3 domain
The SRC Homology 3 Domain is a small protein domain of about 60 amino acids residues first identified as a conserved sequence in the viral adaptor protein v-Crk and the non-catalytic parts of enzymes such as phospholipase and several cytoplasmic tyrosine kinases such as Abl and Src...

 binds to proline-rich peptide peptides and can bind to the Ras-guanine exchange factor SOS.

The C-terminal SH3 domain
SH3 domain
The SRC Homology 3 Domain is a small protein domain of about 60 amino acids residues first identified as a conserved sequence in the viral adaptor protein v-Crk and the non-catalytic parts of enzymes such as phospholipase and several cytoplasmic tyrosine kinases such as Abl and Src...

 binds to peptides conforming to a P-X-I/L/V/-D/N-R-X-X-K-P motif that allows it to specifically bind to proteins such as Gab-1.

Interactions

Grb2 has been shown to interact with Arachidonate 5-lipoxygenase
Arachidonate 5-lipoxygenase
Arachidonate 5-lipoxygenase also known as 5-lipoxygenase or 5-LO is an enzyme that in humans is encoded by the ALOX5 gene. Arachidonate 5-lipoxygenase is a member of the lipoxygenase family of enzymes...

, Lymphocyte cytosolic protein 2
Lymphocyte cytosolic protein 2
Lymphocyte cytosolic protein 2 , also known as LCP2 or SLP-76, is a gene that encodes a signal-transducing adaptor protein.-Interactions:...

, GAB2
GAB2
GRB2-associated-binding protein 2 is a protein that in humans is encoded by the GAB2 gene.The protein encoded by this gene, GAB2 is an adaptor protein serving as principal activator of Phosphatidylinositol 3-kinase...

, B-cell linker
B-cell linker
The B-cell linker protein is encoded by the BLNK gene and is an adaptor protein also known as SLP-65, BASH, and BCA. BLNK is expressed in B cells and macrophages and plays a large role in B cell receptor signalling, in a fashion analogous to the role its paralogue SLP-76 plays in T cell receptor...

, Abl gene
Abl gene
V-abl Abelson murine leukemia viral oncogene homolog 1 also known as ABL1 is a protein that, in humans, is encoded by the ABL1 gene located on chromosome 9.- Function :...

, CD28
CD28
CD28 is one of the molecules expressed on T cells that provide co-stimulatory signals, which are required for T cell activation. CD28 is the receptor for CD80 and CD86 . When activated by Toll-like receptor ligands, the CD80 expression is upregulated in antigen presenting cells...

, FRS2
FRS2
Fibroblast growth factor receptor substrate 2 is a protein that in humans is encoded by the FRS2 gene.-Interactions:FRS2 has been shown to interact with PRKCI, Grb2, PTPN11, Fibroblast growth factor receptor 1, TrkA, Cbl gene and SOS1....

, Mitogen-activated protein kinase 9
Mitogen-activated protein kinase 9
Mitogen-activated protein kinase 9 is an enzyme that in humans is encoded by the MAPK9 gene.-Interactions:Mitogen-activated protein kinase 9 has been shown to interact with TOB1, Grb2, MAPK8IP2, P53, MAPK8IP3 and MAPK8IP1.-Further reading:...

, CD22
CD22
CD22 or cluster of differentiation-22, is a molecule belonging to the SIGLEC family of lectins. It is found on the surface of mature B cells and to a lesser extent on some immature B cells...

, NEU3
NEU3
Sialidase-3 is an enzyme that in humans is encoded by the NEU3 gene.-Further reading:...

, ETV6
ETV6
ETV6 is an oncogene.-Interactions:ETV6 has been shown to interact with Grb2, FLI1 and HTATIP.-See also:* TEL-JAK2Mouse Mutant Alleles for Etv6 Marker Symbol for Mouse Gene. This symbol is assigned to the genomic locus by the...

, MAP2
MAP2
Microtubule-associated protein 2 is a protein that in humans is encoded by the MAP2 gene.-Interactions:MAP2 has been shown to interact with Grb2, NEFL and MYO7A.. MAP2 is suspected of interacting with tubulin.-Further reading:...

, Dock180, PIK3R1
PIK3R1
Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the PIK3R1 gene.-Interactions:PIK3R1 has been shown to interact with EPH receptor A2, KHDRBS1, Lymphocyte cytosolic protein 2, Janus kinase 2, GAB2, CD117, BCAR1, CD28, SHB, EZR, PIK3CD, GAB1, HRAS,...

, SH2B1
SH2B1
SH2B adapter protein 1 is a protein that in humans is encoded by the SH2B1 gene.-Interactions:SH2B1 has been shown to interact with Insulin receptor, Grb2, TrkA and Janus kinase 2.- Clinical significance :...

, CRK
CRK (gene)
Adapter molecule crk also known as proto-oncogene c-Crk or p38 is a protein that in humans is encoded by the CRK gene.- Function :...

, GAB1
GAB1
GRB2-associated-binding protein 1 is a protein that in humans is encoded by the GAB1 gene.-Interactions:GAB1 has been shown to interact with Grb2, PIK3R1, PTPN11, CRKL, PLCG1 and MAP3K3.-Further reading:...

, MST1R
MST1R
Macrophage-stimulating protein receptor is a protein that in humans is encoded by the MST1R gene.-Further reading:...

, DNM1
DNM1
Dynamin-1 is a protein that in humans is encoded by the DNM1 gene.-Interactions:DNM1 has been shown to interact with Amphiphysin, FNBP1, NCK1, PACSIN1, Grb2 and SH3GL2.-Further reading:...

, Huntingtin
Huntingtin
The Huntingtin gene, also called HTT or HD gene, is the IT15 gene which codes for a protein called the huntingtin protein...

, Src
Src (gene)
Proto-oncogene tyrosine-protein kinase Src is an enzyme that in humans is encoded by the SRC gene.Src is a proto-oncogene encoding a tyrosine kinase originally discovered by J. Michael Bishop and Harold E. Varmus, for which they won the 1989 Nobel Prize in Physiology or Medicine. It belongs to a...

, Beta-2 adrenergic receptor
Beta-2 adrenergic receptor
The beta-2 adrenergic receptor , also known as ADRB2, is a beta-adrenergic receptor, and also denotes the human gene encoding it.-Gene:The gene is intronless...

, VAV2
VAV2
Guanine nucleotide exchange factor VAV2 is a protein that in humans is encoded by the VAV2 gene.-Interactions:VAV2 has been shown to interact with CD19 and Grb2.-Further reading:...

, ADAM15
ADAM15
Disintegrin and metalloproteinase domain-containing protein 15 is an enzyme that in humans is encoded by the ADAM15 gene.-Interactions:ADAM15 has been shown to interact with Grb2, HCK, SNX9, Lck and SH3GL2.-External links:...

, RAPGEF1
RAPGEF1
Rap guanine nucleotide exchange factor 1 is a protein that in humans is encoded by the RAPGEF1 gene.-Interactions:RAPGEF1 has been shown to interact with BCAR1, Grb2, HCK, CRKL and CRK.-External links:* Info with links in the...

, VAV1
VAV1
Proto-oncogene vav is a protein that in humans is encoded by the VAV1 gene.-Interactions:VAV1 has been shown to interact with Ku70, PLCG1, Lymphocyte cytosolic protein 2, Janus kinase 2, SIAH2, S100B, Abl gene, ARHGDIB, SHB, PIK3R1, PRKCQ, Grb2, MAPK1, Syk, Linker of activated T cells, Cbl gene and...

, HER2/neu
HER2/neu
HER-2 also known as proto-oncogene Neu, receptor tyrosine-protein kinase erbB-2, CD340 or p185 is an enzyme that in humans is encoded by the ERBB2 gene. Over expression of this gene is correlated with higher aggressiveness in breast cancers...

, Epidermal growth factor receptor
Epidermal growth factor receptor
The epidermal growth factor receptor is the cell-surface receptor for members of the epidermal growth factor family of extracellular protein ligands...

, PDGFRB
PDGFRB
Beta-type platelet-derived growth factor receptor is a protein that in humans is encoded by the PDGFRB gene.-Interactions:PDGFRB has been shown to interact with PTPN11, NCK1, Grb2, Caveolin 1, PDGFRA, Sodium-hydrogen antiporter 3 regulator 1, RAS p21 protein activator 1, CRK, SHC1 and...

, PTK2
PTK2
PTK2 protein tyrosine kinase 2 , also known as Focal Adhesion Kinase , is a protein that, in humans, is encoded by the PTK2 gene. PTK2 is a focal adhesion-associated protein kinase involved in cellular adhesion and spreading processes...

, Erythropoietin receptor
Erythropoietin receptor
The erythropoietin receptor is a protein that in humans is encoded by the EPOR gene. EpoR is a 59 kDa peptide and is a member of the cytokine receptor family. EpoR pre-exists as dimers...

, Linker of activated T cells
Linker of activated T cells
Linker of Activated T cells, also known as LAT, is a protein which in humans is encoded by the LAT gene. Alternative splicing results in multiple transcript variants encoding different isoforms.-Function:...

, Dystroglycan
Dystroglycan
Dystroglycan is a protein that in humans is encoded by the DAG1 gene.Dystroglycan is one of the dystrophin-associated glycoproteins, which is encoded by a 5.5 kb transcript in Homo sapiens by chromosome 3. There are two exons that are separated by a large intron...

, SH3KBP1
SH3KBP1
SH3 domain-containing kinase-binding protein 1 is an enzyme that in humans is encoded by the SH3KBP1 gene.-Interactions:SH3KBP1 has been shown to interact with B-cell linker, Grb2, SH3GLB2, SH3GL3, SH3GL2, BCAR1, Epidermal growth factor receptor, CBLB, Cbl gene, SOS1, CRK and PAK2.-Further reading:...

, Granulocyte colony-stimulating factor receptor
Granulocyte colony-stimulating factor receptor
The granulocyte colony-stimulating factor receptor also known as CD114 is a protein that in humans is encoded by the CSF3R gene. G-CSF-R is a cell-surface receptor for the granulocyte colony-stimulating factor...

, DCTN1
DCTN1
Dynactin subunit 1 is a protein that in humans is encoded by the DCTN1 gene.- Function :This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein...

, CDKN1B
CDKN1B
Cyclin-dependent kinase inhibitor 1B is an enzyme that in humans is encoded by the CDKN1B gene. It encodes a protein which belongs to the Cip/Kip family of cyclin dependent kinase inhibitor proteins. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4...

, Colony stimulating factor 1 receptor
Colony stimulating factor 1 receptor
Colony stimulating factor 1 receptor , also known as macrophage colony-stimulating factor receptor , and CD115 , is a cell-surface protein encoded, in humans, by the CSF1R gene...

, EPH receptor A2
EPH receptor A2
EPH receptor A2 is a protein that in humans is encoded by the EPHA2 gene.-Interactions:EPH receptor A2 has been shown to interact with PIK3R1, Grb2, ACP1 and SHC1.-References:...

, KHDRBS1
KHDRBS1
KH domain-containing, RNA-binding, signal transduction-associated protein 1 is a protein that in humans is encoded by the KHDRBS1 gene.-Further reading:...

, RET proto-oncogene
RET proto-oncogene
The RET proto-oncogene encodes a receptor tyrosine kinase for members of the glial cell line-derived neurotrophic factor family of extracellular signalling molecules....

, PLCG1
PLCG1
Phospholipase C, gamma 1, also known as PLCG1, is a protein that in humans is encoded by the PLCG1 gene.-Function:The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate...

, TrkA
TrkA
High affinity nerve growth factor receptor also known as neurotrophic tyrosine kinase receptor type 1 or TRK1-transforming tyrosine kinase protein or Trk-A is a protein that in humans is encoded by the NTRK1 gene....

, PRKAR1A
PRKAR1A
cAMP-dependent protein kinase type I-alpha regulatory subunit is an enzyme that in humans is encoded by the PRKAR1A gene.- Function :cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase A , which...

, Janus kinase 2
Janus kinase 2
Janus kinase 2 is a human protein that has been implicated in signaling by members of the type II cytokine receptor family , the GM-CSF receptor family , the gp130 receptor family , and the single chain receptors...

, MUC1
MUC1
Mucin 1, cell surface associated or polymorphic epithelial mucin is a mucin encoded by the MUC1 gene in humans. MUC1 is a proteoglycan with extensive O-linked glycosylation of its extracellular domain. Mucins line the apical surface of epithelial cells in the lungs, stomach, intestines, eyes and...

, CD117
CD117
Mast/stem cell growth factor receptor also known as proto-oncogene c-Kit or tyrosine-protein kinase Kit or CD117 is a protein that in humans is encoded by the KIT gene...

, Fas ligand
FAS ligand
Fas ligand is a type-II transmembrane protein that belongs to the tumor necrosis factor family. Its binding with its receptor induces apoptosis. Fas ligand/receptor interactions play an important role in the regulation of the immune system and the progression of cancer.- Structure :Fas ligand or...

, Janus kinase 1
Janus kinase 1
JAK1 is a human tyrosine kinase protein essential for signaling for certain type I and type II cytokines. It interacts with the common gamma chain of type I cytokine receptors, to elicit signals from the IL-2 receptor family , the IL-4 receptor family , the gp130 receptor family JAK1 is a human...

, VAV3
VAV3
Guanine nucleotide exchange factor VAV3 is a protein that in humans is encoded by the VAV3 gene.-Further reading:...

, BCAR1
BCAR1
Breast cancer anti-estrogen resistance protein 1 is a protein that in humans is encoded by the BCAR1 gene.-External links:* Info with links in the...

, PTPN1
PTPN1
Tyrosine-protein phosphatase non-receptor type 1 also known as protein-tyrosine phosphatase 1B is an enzyme that is the founding member of the protein tyrosine phosphatase family. In humans it is encoded by the PTPN1 gene...

, INPP5D
INPP5D
Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1 is an enzyme that in humans is encoded by the INPP5D gene.-Interactions:INPP5D has been shown to interact with DOK2, LYN, CD22, Grb2, CRKL, CD31, DOK1 and SHC1.-Further reading:...

, ITK
ITK (gene)
IL2-inducible T-cell kinase, also known as ITK, is a protein that in humans is encoded by the ITK gene.- Function :This gene encodes an intracellular tyrosine kinase expressed in T-cells...

, SHC1
SHC1
SHC-transforming protein 1 is a protein that in humans is encoded by the SHC1 gene. SHC has been found to be important in the regulation of apoptosis and drug resistance in mammalian cells....

, PTPN12
PTPN12
Tyrosine-protein phosphatase non-receptor type 12 is an enzyme that in humans is encoded by the PTPN12 gene.-Interactions:PTPN12 has been shown to interact with BCAR1, Grb2, PSTPIP1, TGFB1I1, Paxillin and SHC1.-Further reading:...

, C-Met
C-MET
c-Met is a proto-oncogene that encodes a protein known as hepatocyte growth factor receptor . The hepatocyte growth factor receptor protein possesses tyrosine-kinase activity...

, PTPN11
PTPN11
Tyrosine-protein phosphatase non-receptor type 11 also known as protein-tyrosine phosphatase 1D or protein-tyrosine phosphatase 2C is an enzyme that in humans is encoded by the PTPN11 gene. PTPN11 is a protein tyrosine phosphatase Shp2.PTPN11 is a member of the protein tyrosine phosphatase ...

, Glycoprotein 130
Glycoprotein 130
Glycoprotein 130 is a transmembrane protein which is the founding member of the class of all cytokine receptors. It forms one subunit of type I cytokine receptors within the IL-6 receptor family...

, PTPN6
PTPN6
Tyrosine-protein phosphatase non-receptor type 6 is an enzyme that in humans is encoded by the PTPN6 gene.Also known as Src homology region 2 domain-containing phosphatase-1 .-Interactions:...

, Syk
Syk
Spleen tyrosine kinase, also known as Syk, is an enyzme which in humans is encoded by the SYK gene.- Function :SYK, along with Zap-70, is a member of the Syk family of tyrosine kinases...

, MAP4K1
MAP4K1
Mitogen-activated protein kinase kinase kinase kinase 1 is a protein kinase that in humans is encoded by the MAP4K1 gene.. It is also known as HPK1 .-Interactions:...

, Wiskott-Aldrich syndrome protein
Wiskott-Aldrich syndrome protein
The Wiskott–Aldrich Syndrome Protein is a 502-amino acid protein that is expressed in cells of the hematopoietic system. In the inactive state, WASp exists in an auto-inhibited conformation with sequences near its C-terminus binding to a region near its N-terminus...

, NCKIPSD
NCKIPSD
NCK-interacting protein with SH3 domain is a protein that in humans is encoded by the NCKIPSD gene.-Interactions:NCKIPSD has been shown to interact with Grb2 and NCK1.-Further reading:...

, PTPRA
PTPRA
Receptor-type tyrosine-protein phosphatase alpha is an enzyme that in humans is encoded by the PTPRA gene.-Interactions:PTPRA has been shown to interact with Grb2 and KCNA2.-Further reading:...

, BCR gene
BCR gene
The BCR gene is one of the two genes in the bcr-abl complex, which is associated with the Philadelphia chromosome.-Pathology:...

, CBLB
CBLB
E3 ubiquitin-protein ligase CBL-B is an enzyme that in humans is encoded by the CBLB gene.-Interactions:CBLB has been shown to interact with Epidermal growth factor receptor, Grb2, PIK3R1, SH3KBP1, CRKL and NEDD4.-Further reading:...

, Cbl gene
Cbl gene
Cbl is a mammalian gene encoding several proteins including E3 ubiquitin-protein ligase CBL involved in cell signalling and protein ubiquitination...

, SOS1
SOS1
Son of sevenless homolog 1 is a protein that in humans is encoded by the SOS1 gene.Recent studies also show that mutations in Sos1 can cause Noonan syndrome and hereditary gingival fibromatosis type 1. Noonan syndrome has also been shown to be caused by mutations in KRAS and PTPN11 genes...

, IRS1
IRS1
Insulin receptor substrate 1 is a protein that in humans is encoded by the IRS-1 gene.-Function:Insulin receptor substrate 1 plays a key role in transmitting signals from the insulin and insulin-like growth factor-1 receptors to intracellular pathways PI3K / Akt and Erk MAP kinase...

, TNK2
TNK2
Activated CDC42 kinase 1 is an enzyme that in humans is encoded by the TNK2 gene.-Interactions:TNK2 has been shown to interact with FYN and Grb2.-Further reading:...

, MED28
MED28
Mediator of RNA polymerase II transcription subunit 28 is an enzyme that in humans is encoded by the MED28 gene.-Interactions:MED28 has been shown to interact with Merlin, Grb2 and MED26.-Further reading:...

, MAP3K1
MAP3K1
Mitogen-activated protein kinase kinase kinase 1 is an enzyme that in humans is encoded by the MAP3K1 gene.Mouse genetics has revealed that the kinase is important in: correct embryogenesis, keratinocyte migration, T cell cytokine production and B cell antibody production.-Interactions:MAP3K1 has...

 and HNRNPC
HNRNPC
Heterogeneous nuclear ribonucleoproteins C1/C2 is a protein that in humans is encoded by the HNRNPC gene.It is abnormally expressed in fetuses of both IVF and ICSI, which may contribute to the increase risk of birth defects in these ART.-Function:...

.

Further reading

External links

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