Free for academic non-profit institutions. Other users need a Commercial license
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]
PTPN13 (Protein Tyrosine Phosphatase Non-Receptor Type 13) is a Protein Coding gene. Diseases associated with PTPN13 include Streptococcal Meningitis and Colorectal Cancer, Hereditary Nonpolyposis, Type 6. Among its related pathways are Apoptosis Modulation and Signaling and PI Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphatidylinositol 3-kinase regulatory subunit binding. An important paralog of this gene is PTPRD.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
GO:0004725 | protein tyrosine phosphatase activity | IBA,IMP | 23604317 |
GO:0005515 | protein binding | IPI | 10826496 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0016791 | phosphatase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001650 | fibrillar center | IDA | -- |
GO:0005634 | nucleus | IBA,IDA | 10826496 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IBA,IDA | 14516276 |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis Modulation and Signaling |
.31
|
|
2 | Metabolism |
.40
|
|
3 | PI Metabolism |
.63
|
|
4 | PAK Pathway |
Epithelial Adherens Junctions
.36
|
|
5 | Glycerophospholipid biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001933 | negative regulation of protein phosphorylation | IMP | 25893857 |
GO:0006470 | protein dephosphorylation | IDA | 17657516 |
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0014066 | regulation of phosphatidylinositol 3-kinase signaling | IDA | 23604317 |
GO:0016311 | dephosphorylation | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - |
ExUns: | 25b | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47 | ^ | 48a | · | 48b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTPN13 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTPN13 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTPN13 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ptpn13 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTPN13 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptpn13 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PTPN13 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTPN13 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PTPN13 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ptpn13 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ptpn13 30 31 |
|
OneToOne | |
mchr2 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | F55F8.7 32 |
|
|
|
Y38C1AB.4 32 |
|
|
|||
frm-5.2 31 |
|
ManyToMany | |||
frm-5.1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs115231754 | Benign: not provided | 86,751,082(+) |
G/T NM_080683.3(PTPN13):c.3124G>T (p.Asp1042Tyr) |
MISSENSE_VARIANT,INTRON | |
rs115836094 | Benign: not provided | 86,701,574(+) |
G/A NM_080683.3(PTPN13):c.968G>A (p.Arg323His) |
MISSENSE | |
rs17012064 | Benign: not provided. - | 86,772,839(+) |
T/Cp.Ser1744Pro NM_080683.3(PTPN13):c.5230T>C (p.Ser1744Pro) |
MISSENSE | |
rs191050128 | Benign: not provided | 86,701,425(+) |
C/T NM_080683.3(PTPN13):c.819C>T (p.Ser273=) |
SYNONYMOUS | |
rs201774157 | Likely Benign: not provided | 86,814,461(+) |
A/G NM_080683.3(PTPN13):c.7368A>G (p.Gln2456=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2653947 | CNV | deletion | 19546169 |
esv2659040 | CNV | deletion | 23128226 |
esv2759264 | CNV | loss | 17122850 |
esv3564191 | CNV | deletion | 23714750 |
esv3569571 | CNV | loss | 25503493 |
esv3601257 | CNV | loss | 21293372 |
esv3601258 | CNV | loss | 21293372 |
esv3601259 | CNV | loss | 21293372 |
esv3601260 | CNV | gain | 21293372 |
esv3601263 | CNV | loss | 21293372 |
esv999120 | CNV | deletion | 20482838 |
nsv474128 | CNV | novel sequence insertion | 20440878 |
nsv507180 | OTHER | sequence alteration | 20534489 |
nsv508296 | CNV | deletion | 20534489 |
nsv528327 | CNV | loss | 19592680 |
nsv594786 | CNV | gain | 21841781 |
nsv594787 | CNV | gain | 21841781 |
nsv822635 | CNV | loss | 20364138 |
nsv830001 | CNV | loss | 17160897 |
nsv967770 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
streptococcal meningitis |
|
|
colorectal cancer, hereditary nonpolyposis, type 6 |
|
|
rectum squamous cell carcinoma |
|
|
colorectal cancer, hereditary nonpolyposis, type 4 |
|
|
tongue carcinoma |
|
|