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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: ... See more...
Aliases for PTPN13 Gene
Aliases for PTPN13 Gene
- Protein Tyrosine Phosphatase Non-Receptor Type 13 2 3 5
- PTP-BAS 2 3 4
- PTP1E 2 3 4
- PTPL1 2 3 4
- Protein Tyrosine Phosphatase, Non-Receptor Type 13 (APO-1/CD95 (Fas)-Associated Phosphatase) 2 3
- Tyrosine-Protein Phosphatase Non-Receptor Type 13 3 4
- Fas-Associated Protein-Tyrosine Phosphatase 1 3 4
- Protein-Tyrosine Phosphatase PTPL1 3 4
- Protein-Tyrosine Phosphatase 1E 3 4
External Ids for PTPN13 Gene
- HGNC: 9646
- NCBI Entrez Gene: 5783
- Ensembl: ENSG00000163629
- OMIM®: 600267
- UniProtKB/Swiss-Prot: Q12923
Previous GeneCards Identifiers for PTPN13 Gene
- GC04P087673
- GC04P087817
- GC04P087974
- GC04P087873
- GC04P087515
- GC04P083259
Summaries for PTPN13 Gene
-
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]
GeneCards Summary for PTPN13 Gene
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.
UniProtKB/Swiss-Prot Summary for PTPN13 Gene
-
Tyrosine phosphatase which regulates negatively FAS-induced apoptosis and NGFR-mediated pro-apoptotic signaling (PubMed:15611135). May regulate phosphoinositide 3-kinase (PI3K) signaling through dephosphorylation of PIK3R2 (PubMed:23604317).
Additional gene information for PTPN13 Gene
- HGNC (9646)
- NCBI Entrez Gene (5783)
- Ensembl (ENSG00000163629)
- OMIM® (600267)
- UniProtKB/Swiss-Prot (Q12923)
- Open Targets Platform(ENSG00000163629)
- Monarch Initiative
- Search for PTPN13 at DataMed
- Search for PTPN13 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTPN13 Gene
Genomics for PTPN13 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PTPN13 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PTPN13 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTPN13
- Top Transcription factor binding sites by QIAGEN in the PTPN13 gene promoter:
-
- aMEF-2
- E4BP4
- GATA-1
- HFH-1
- MEF-2A
- Pbx1a
- POU2F1
- POU2F1a
Genomic Locations for PTPN13 Gene
Latest Assembly
- chr4:86,594,307-86,815,172
- (GRCh38/hg38)
- Size:
- 220,866 bases
- Orientation:
- Plus strand
Previous Assembly
- chr4:87,515,468-87,736,314
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 220,847 bases
- Orientation:
- Plus strand
- chr4:87,515,468-87,736,324
- (GRCh37/hg19 by Ensembl)
- Size:
- 220,857 bases
- Orientation:
- Plus strand
Genomic View for PTPN13 Gene
Genes around PTPN13 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q21.3 by HGNC
- 4q21.3 by Entrez Gene
- 4q21.3 by Ensembl
PTPN13 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PTPN13 Gene
Proteins for PTPN13 Gene
-
Protein details for PTPN13 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12923-PTN13_HUMAN
- Recommended name:
- Tyrosine-protein phosphatase non-receptor type 13
- Protein Accession:
- Q12923
- B2RTR0
- Q15159
- Q15263
- Q15264
- Q15265
- Q15674
- Q16826
- Q8IWH7
- Q9NYN9
- Q9UDA8
Protein attributes for PTPN13 Gene
- Size:
- 2485 amino acids
- Molecular mass:
- 276906 Da
- Quaternary structure:
-
- Interacts (via the first PDZ domain) with PLEKHA1 and PLEKHA2 (PubMed:14516276). Interacts (via the second PDZ domain) with TNFRSF6 (Fas receptor) (via C-terminus) (PubMed:10704206). Interacts (via the second PDZ domain) with TRIP6 (via the third LIM domain and C-terminus) (PubMed:10826496, PubMed:10400701). Interacts (via the third PDZ domain) with NGFR (via C-terminal SVP motif) and PKN2 (via C-terminus) (PubMed:10544233, PubMed:11356191). Interacts (via the second or fourth PDZ domains) with PDLIM4 (via C-terminus only or via combined C-terminus and LIM domain, but not LIM domain only). Found in a complex with PDLIM4 and TRIP6 (By similarity). Interacts with PDLIM4; this interaction results in dephosphorylation of SRC 'Tyr-419' by this protein leading to its inactivation (PubMed:19307596). Interacts with BRD7 (By similarity). Interacts with RAPGEF6 (PubMed:12095257). Interacts with ARHGAP29 (PubMed:9305890). Interacts with PIK3R2; dephosphorylates PIK3R2 (PubMed:23604317). Interacts with FBXL2 (PubMed:23604317). Interacts (via the FERM domain) with ENTR1 (PubMed:23108400). Found in a complex with ENTR1, PTPN13 and GIT1 (PubMed:23108400).
- SequenceCaution:
-
- Sequence=AAH39610.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 4]: May be due to a competing donor splice site.
Three dimensional structures from OCA and Proteopedia for PTPN13 Gene
Protein Expression for PTPN13 Gene
Selected DME Specific Peptides for PTPN13 Gene
- Q12923:
-
- MVQTEDQY
- HCSAGIGR
- KNRYKNILP
Post-translational modifications for PTPN13 Gene
Other Protein References for PTPN13 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for PTPN13
- Novus Biologicals Antibodies for PTPN13
- Invitrogen Antibodies for PTPN13 (AFLGC-PTPN13)
-
Biorbyt antibodies for PTPN13
-
Boster Bio Antibodies for PTPN13
-
Custom Antibody ServicesProSci Antibodies for PTPN13
- protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) [14-741]
- protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) [71-025]
- protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) [XW-7835]
Protein products for research
-
OriGene Purified Proteins for PTPN13
- Search Origene for MassSpec and Protein Over-expression Lysates for PTPN13
- Origene Custom Protein Services for PTPN13
- Novus Biologicals proteins for PTPN13
- antibodies-online: Show 10 available PTPN13 Proteins ranked by validation data
- Compare Top PTPN13 Proteins
-
Quality Products:
-
Abcam proteins for PTPN13
Assay products for research
Domains & Families for PTPN13 Gene
Gene Families for PTPN13 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Enzymes
- Predicted intracellular proteins
Protein Domains for PTPN13 Gene
- InterPro:
- Blocks:
-
- PDZ/DHR/GLGF domain
- Band 4.1 domain
- Protein tyrosine phosphatase signature
- ProtoNet:
Suggested Antigen Peptide Sequences for PTPN13 Gene
- GenScript: Design optimal peptide antigens:
-
- Protein-tyrosine phosphatase PTPL1 (PTN13_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q12923UniProtKB/Swiss-Prot:
PTN13_HUMAN :- Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
- Family:
-
- Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
Function for PTPN13 Gene
Molecular function for PTPN13 Gene
- UniProtKB/Swiss-Prot Function:
- Tyrosine phosphatase which regulates negatively FAS-induced apoptosis and NGFR-mediated pro-apoptotic signaling (PubMed:15611135). May regulate phosphoinositide 3-kinase (PI3K) signaling through dephosphorylation of PIK3R2 (PubMed:23604317).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence={ECO:0000269|PubMed:15611135, ECO:0000269|PubMed:19307596};.
- GENATLAS Biochemistry:
- protein tyrosine phosphatase,non receptor type 13,with a membrane binding region homologous to that found in cytoskeleton associated proteins,ezrin/moesin/radixin-like (ERM) family member,responding and participating in reorganization of membrane-cytoplasmic interactions
Enzyme Numbers (IUBMB) for PTPN13 Gene
Phenotypes From GWAS Catalog for PTPN13 Gene
| 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 | -- |
Phenotypes for PTPN13 Gene
- MGI mutant phenotypes for PTPN13:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PTPN13:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased viability
- Increased transcriptional activity
- Increased NF-kappaB reporter expression
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Decreased shRNA abundance
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Moderately decreased NFAT1-GFP nuclear translocation
- Increased G1 DNA content
- Increased cell migration
- G0/1 arrest
- Increased cell number in G1, small nuclei in G1
- Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
Animal Models for PTPN13 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PTPN13 - Starting at $85 >
- * PTPN13 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PTPN13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PTPN13
-
Santa Cruz Biotechnology (SCBT) CRISPR for PTPN13
miRNA for PTPN13 Gene
- miRTarBase miRNAs that target PTPN13
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PTPN13
- Browse OriGene Inhibitory RNA Products For PTPN13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPN13
Clone products for research
- Applied Biological Materials (abm): Clones for PTPN13 - Starting at $45 >
- * PTPN13 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PTPN13
- Addgene plasmids for PTPN13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PTPN13
Cell Lines for research
-
Horizon Cell Lines for PTPN13
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTPN13 Gene
Localization for PTPN13 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PTPN13 Gene
- Cytoplasm, cytoskeleton. Nucleus. Cell projection, lamellipodium. Note=Colocalizes with F-actin (PubMed:10826496). Colocalizes with PKN2 in lamellipodia-like structure, regions of large actin turnover (PubMed:11356191). {ECO:0000269 PubMed:10826496, ECO:0000269 PubMed:11356191}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| cytoskeleton | 4 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
- Cytosol (2)
- Nucleoli fibrillar center (2)
| 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 | -- |
Pathways & Interactions for PTPN13 Gene
| 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 | ||
Pathways by source for PTPN13 Gene
4 BioSystems pathways for PTPN13 Gene
5 Reactome pathways for PTPN13 Gene
1 KEGG pathway for PTPN13 Gene
2 GeneGo (Thomson Reuters) pathways for PTPN13 Gene
- Cell adhesion Ephrins signaling
- Cytoskeleton remodeling Reverse signaling by ephrin B
1 Qiagen pathway for PTPN13 Gene
- Epithelial Adherens Junctions
Interacting Proteins for PTPN13 Gene
Selected Interacting proteins:
Q12923-PTN13_HUMAN
ENSP00000394794
for PTPN13 Gene via
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for PTPN13
| 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 | -- |
Transcripts for PTPN13 Gene
mRNA/cDNA for PTPN13 Gene
- 4 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000316707 7546 nts (view in UCSC)
- ENST00000411767 8548 nts (view in UCSC)
- ENST00000427191 8487 nts (view in UCSC)
- ENST00000436978 8573 nts (view in UCSC)
- ENST00000502971 1708 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PTPN13 - Starting at $85 >
- * PTPN13 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PTPN13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PTPN13
-
Santa Cruz Biotechnology (SCBT) CRISPR for PTPN13
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PTPN13
- Browse OriGene Inhibitory RNA Products For PTPN13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPN13
Clone products for research
- Applied Biological Materials (abm): Clones for PTPN13 - Starting at $45 >
- * PTPN13 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PTPN13
- Addgene plasmids for PTPN13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PTPN13
| 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: | - |
Relevant External Links for PTPN13 Gene
- GeneLoc Exon Structure for
- PTPN13
Expression for PTPN13 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
- Ovary (Reproductive System)
- Blood (Hematopoietic System)
-
Esophagus (Gastrointestinal Tract)
This gene is overexpressed in Retina (16.4), Bone marrow stromal cell (11.2), Cervix (9.4), Heart (9.0), and Urine (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTPN13 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTPN13
SOURCE GeneReport for Unigene cluster for PTPN13 Gene:
Hs.436142mRNA Expression by UniProt/SwissProt for PTPN13 Gene:
Q12923-PTN13_HUMAN
Tissue specificity:
Expressed in keratinocytes (at protein level) (PubMed:29043977). Present in most tissues with the exception of the liver and skeletal muscle. Most abundant in lung, kidney and fetal brain.
Evidence on tissue expression from TISSUES for PTPN13 Gene
- Nervous system(4.6)
- Eye(4.4)
- Pancreas(4.4)
- Skin(2.6)
- Kidney(2.5)
- Intestine(2.3)
- Lung(2.2)
- Blood(2.1)
Primer products for research
-
OriGene qPCR primer pairs for PTPN13
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPN13 Gene
Orthologs for PTPN13 Gene
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 |
- Species where no ortholog for PTPN13 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for PTPN13 Gene
- ENSEMBL:
- Gene Tree for PTPN13 (if available)
- TreeFam:
- Gene Tree for PTPN13 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PTPN13: view image
Paralogs for PTPN13 Gene
Paralogs for PTPN13 Gene
(19) SIMAP similar genes for PTPN13 Gene using alignment to 4 proteins:
- PTN13_HUMAN
- D6R9M4_HUMAN
- D6R9X4_HUMAN
- Q4W5F5_HUMAN
Variants for PTPN13 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTPN13 Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
Residual Variation Intolerance Score:
98.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.44;
88.62% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PTPN13 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPN13 Gene
Disorders for PTPN13 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| streptococcal meningitis |
|
|
| colorectal cancer, hereditary nonpolyposis, type 6 |
|
|
| rectum squamous cell carcinoma |
|
|
| colorectal cancer, hereditary nonpolyposis, type 4 |
|
|
| tongue carcinoma |
|
|
Search PTPN13 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PTPN13
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PTPN13 Gene
Publications for PTPN13 Gene
- Molecular cloning of a novel protein-tyrosine phosphatase containing a membrane-binding domain and GLGF repeats. (PMID: 8287977) Maekawa K … Harada S (FEBS letters 1994) 2 3 4 23
- Genetic polymorphisms in the PTPN13 gene and risk of squamous cell carcinoma of head and neck. (PMID: 19892796) Niu J … Wei Q (Carcinogenesis 2009) 3 23 41
- Crystal structure of the PTPL1/FAP-1 human tyrosine phosphatase mutated in colorectal cancer: evidence for a second phosphotyrosine substrate recognition pocket. (PMID: 15611135) Villa F … van Aalten DM (The Journal of biological chemistry 2005) 3 4 23
- Interaction of the protein tyrosine phosphatase PTPL1 with the PtdIns(3,4)P2-binding adaptor protein TAPP1. (PMID: 14516276) Kimber WA … Alessi DR (The Biochemical journal 2003) 3 4 23
- Head-to-head juxtaposition of Fas-associated phosphatase-1 (FAP-1) and c-Jun NH2-terminal kinase 3 (JNK3) genes: genomic structure and seven polymorphisms of the FAP-1 gene. (PMID: 12436199) Yoshida S … Emi M (Journal of human genetics 2002) 3 4 23
ExternalLinks
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- protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) [14-741]
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Sources for PTPN13 Gene
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