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The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) is a Protein Coding gene. Diseases associated with PTPN11 include Noonan Syndrome 1 and Juvenile Myelomonocytic Leukemia. Among its related pathways are RET signaling and Interleukin-11 Signaling Pathway. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and protein tyrosine phosphatase activity. An important paralog of this gene is PTPN6.
Protein tyrosine phosphatases (PTPs) are a group of enzymes that catalyze the removal of phosphate groups from tyrosine residues by the hydrolysis of phosphoric acid monoesters. They directly oppose the actions of kinase and phosphorylase enzymes.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001784 | phosphotyrosine residue binding | IPI | 11986327 |
GO:0004721 | phosphoprotein phosphatase activity | IEA,IDA | 15133037 |
GO:0004725 | protein tyrosine phosphatase activity | IEA,TAS | -- |
GO:0004726 | non-membrane spanning protein tyrosine phosphatase activity | TAS | -- |
GO:0005070 | SH3/SH2 adaptor activity | IPI | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 15133037 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 10940933 |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005829 | cytosol | IEA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
.92
|
|
2 | Downstream signaling of activated FGFR2 | ||
3 | GAB1 signalosome |
.89
|
|
4 | Negative regulation of FGFR3 signaling | ||
5 | Activated TLR4 signalling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000077 | DNA damage checkpoint | IEA | -- |
GO:0000187 | activation of MAPK activity | IEA | -- |
GO:0006470 | protein dephosphorylation | IEA | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006641 | triglyceride metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
Dodecyltrimethylammonium | Experimental | Pharma | Target | 0 | ||
Imidazole | Experimental, Investigational | Pharma | 66 | |||
BVT 948 | Pharma | PTPs inhibitor,cell-permeable and non-competitve, Non-competitive protein tyrosine phosphatase inhibitor; enhances insulin signaling | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Phosphate |
|
14066-19-4, 14265-44-2 |
|
|||
VO-OHpic |
|
675848-25-6 |
|
|
Compound | Action | Cas Number |
---|---|---|
BVT 948 | Non-competitive protein tyrosine phosphatase inhibitor; enhances insulin signaling | 39674-97-0 |
NSC 87877 | Potent inhibitor of shp2 and shp1 PTP | 56990-57-9 |
Sodium orthovanadate | Protein tyrosine phosphatase inhibitor | 13721-39-6 |
TCS 401 | Selective inhibitor of PTP1B | 243966-09-8 |
VO-OHpic | Potent PTEN inhibitor | 675848-25-6 |
Compound | Action | Cas Number |
---|---|---|
BVT 948 | PTPs inhibitor,cell-permeable and non-competitve | 39674-97-0 |
Etidronate | 2809-21-4 | |
NSC 87877 | Shp2 /shp1 PTP inhibitor | 56990-57-9 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTPN11 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PTPN11 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTPN11 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTPN11 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTPN11 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptpn11 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ptpn11 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTPN11 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PTPN11 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.936 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.16002 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ptpn11a 30 31 |
|
OneToOne | |
wufi24f03 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | csw 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002438 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F47B3.7 32 |
|
|
|
ptp-2 31 32 |
|
OneToMany | |||
C55B7.3 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6771 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636408 | Pathogenic: not provided | 112,473,040(+) | T/A | MISSENSE_VARIANT | |
644387 | Uncertain Significance: Rasopathy | 112,419,131(+) | G/T | INTRON_VARIANT | |
647494 | Uncertain Significance: Rasopathy | 112,477,964(+) | A/G | SYNONYMOUS_VARIANT | |
648804 | Uncertain Significance: Rasopathy | 112,482,197(+) | G/A | MISSENSE_VARIANT | |
691660 | Likely Pathogenic: Ventricular tachycardia | 112,477,650(+) | G/C | SPLICE_ACCEPTOR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1557n100 | CNV | loss | 25217958 |
esv2661618 | CNV | deletion | 23128226 |
esv2746369 | CNV | deletion | 23290073 |
esv3412436 | CNV | insertion | 20981092 |
esv3580466 | CNV | loss | 25503493 |
esv3630778 | CNV | loss | 21293372 |
nsv1040646 | CNV | gain | 25217958 |
nsv1043127 | CNV | gain | 25217958 |
nsv1050197 | CNV | gain | 25217958 |
nsv1119986 | CNV | deletion | 24896259 |
nsv1119987 | CNV | deletion | 24896259 |
nsv1122766 | CNV | deletion | 24896259 |
nsv1134263 | CNV | deletion | 24896259 |
nsv889 | CNV | deletion | 18451855 |
nsv973121 | CNV | duplication | 23825009 |
nsv973122 | CNV | duplication | 23825009 |
nsv973123 | CNV | duplication | 23825009 |