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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. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PTPN6 (Protein Tyrosine Phosphatase Non-Receptor Type 6) is a Protein Coding gene. Diseases associated with PTPN6 include Cd45 Deficiency and Polycythemia. Among its related pathways are RET signaling and B cell receptor signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include protein kinase binding and SH3 domain binding. An important paralog of this gene is PTPN11.
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 | IEA,IPI | 11986327 |
GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
GO:0004725 | protein tyrosine phosphatase activity | TAS | -- |
GO:0005001 | transmembrane receptor protein tyrosine phosphatase activity | IDA | 11266449 |
GO:0005515 | protein binding | IPI | 7228577 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005634 | nucleus | IEA,IDA | 19838216 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 10940933 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling | ||
2 | B cell receptor signaling pathway (KEGG) | ||
3 | Immune response Role of DAP12 receptors in NK cells |
Immune response CD16 signaling in NK cells
.32
Immune response Role of DAP12 receptors in NK cells
.32
|
|
4 | T cell receptor signaling pathway | ||
5 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002244 | hematopoietic progenitor cell differentiation | IEA | -- |
GO:0002924 | negative regulation of humoral immune response mediated by circulating immunoglobulin | IEA | -- |
GO:0006470 | protein dephosphorylation | IDA | 11266449 |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | 7781604 |
GO:0008284 | positive regulation of cell proliferation | IMP | 19749791 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
tiludronate | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor | 2 | ||
Phosphoric acid | Approved | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
BVT 948 | Pharma | PTPs inhibitor,cell-permeable and non-competitve, Non-competitive protein tyrosine phosphatase inhibitor; enhances insulin signaling | 0 | |||
NSC 87877 | Pharma | Shp2 /shp1 PTP inhibitor, Potent inhibitor of shp2 and shp1 PTP | 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 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | · | 3f | · | 3g | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | · | 5d | · | 5e | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP17: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP18: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP19: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP20: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP21: |
ExUns: | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21a | · | 21b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||||||||||
SP15: | |||||||||||||||||||||||||||||||||||
SP16: | |||||||||||||||||||||||||||||||||||
SP17: | |||||||||||||||||||||||||||||||||||
SP18: | |||||||||||||||||||||||||||||||||||
SP19: | |||||||||||||||||||||||||||||||||||
SP20: | |||||||||||||||||||||||||||||||||||
SP21: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTPN6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTPN6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTPN6 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTPN6 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptpn6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ptpn6 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PTPN6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTPN6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PTPN6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ptpn6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ptpn6 30 31 |
|
OneToMany | |
-- 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10340 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | csw 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | F47B3.7 32 |
|
|
|
F47B3.1 32 |
|
|
|||
F47B3.6 32 |
|
|
|||
Y48G9A.9 32 |
|
|
|||
ptp-2 31 32 |
|
OneToMany | |||
C55B7.3 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709890 | Benign: not provided | 6,960,334(+) | C/G | INTRON_VARIANT | |
725609 | Benign: not provided | 6,959,963(+) | C/T | SYNONYMOUS_VARIANT | |
725610 | Benign: not provided | 6,960,696(+) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
770410 | Benign: not provided | 6,956,472(+) | T/. | SYNONYMOUS_VARIANT,NO_SEQUENCE_ALTERATION | |
776690 | Benign: not provided | 6,951,726(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2324n54 | CNV | loss | 21841781 |
dgv2325n54 | CNV | loss | 21841781 |
dgv2326n54 | CNV | loss | 21841781 |
esv3356433 | CNV | duplication | 20981092 |
esv3381477 | CNV | insertion | 20981092 |
esv994245 | CNV | insertion | 20482838 |
nsv1035811 | CNV | gain | 25217958 |
nsv1047373 | CNV | gain | 25217958 |
nsv509453 | CNV | insertion | 20534489 |
nsv513351 | CNV | insertion | 21212237 |
nsv557262 | CNV | gain | 21841781 |
nsv952791 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cd45 deficiency |
|
|
polycythemia |
|
|
polycythemia vera |
|
|
subcorneal pustular dermatosis |
|
|
leishmaniasis |
|