The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multip... See more...

Aliases for PTPN20 Gene

Aliases for PTPN20 Gene

  • Protein Tyrosine Phosphatase Non-Receptor Type 20 2 3 5
  • Protein Tyrosine Phosphatase, Non-Receptor Type 20A 2 3
  • Protein Tyrosine Phosphatase, Non-Receptor Type 20B 2 3
  • Tyrosine-Protein Phosphatase Non-Receptor Type 20 3 4
  • EC 3.1.3.48 4 51
  • BA142I17.1 2 3
  • BA42B19.1 2 3
  • PTPN20A 3 4
  • PTPN20B 3 4
  • CT126 2 3
  • DKFZP566K0524 2
  • HPTPN20 4
  • PTPN20 5

External Ids for PTPN20 Gene

Previous HGNC Symbols for PTPN20 Gene

  • PTPN20A
  • PTPN20B

Previous GeneCards Identifiers for PTPN20 Gene

  • GC10M048358

Summaries for PTPN20 Gene

Entrez Gene Summary for PTPN20 Gene

  • The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

GeneCards Summary for PTPN20 Gene

PTPN20 (Protein Tyrosine Phosphatase Non-Receptor Type 20) is a Protein Coding gene. Diseases associated with PTPN20 include Leopard Syndrome 1. Among its related pathways are PAK Pathway. Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein tyrosine phosphatase activity. An important paralog of this gene is PTPN13.

UniProtKB/Swiss-Prot Summary for PTPN20 Gene

  • Tyrosine-protein phosphatase targeted to sites of actin polymerization in response of varied extracellular stimuli. Has tyrosine phosphatase activity towards various tyrosyl phosphorylated substrates.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTPN20 Gene

Genomics for PTPN20 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTPN20 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J046911 Promoter 0.7 EPDnew Ensembl 600.7 +0.3 328 1.4 PTPN20 piR-37541-001 GDF10
GH10J047401 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 5.6 +493.9 493866 8.5 CREB1 ZNF629 LEF1 IKZF1 KDM1A TARDBP ZHX2 JUND PRDM1 ZIC2 LOC107001062 AGAP9 BMS1P2 ENSG00000229227 BMS1P1 MAPK8 PTPN20 piR-37895-022 ZNF488 FAM25G
GH10J046522 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 3.9 -386.9 -386871 3.8 ARHGAP35 YBX1 PRDM10 LEF1 IKZF1 NFRKB TARDBP ZNF300 MTA2 PHF21A lnc-SYT15-2 PARGP1 AGAP4 BMS1P1 AGAP9 WASHC2C ENSG00000229227 AGAP10P FAM21FP ZFAND4
GH10J047360 Enhancer 0.6 Ensembl 4.4 +449.8 449829 2.4 CTCF IKZF1 PRDM1 REST SMC3 ZNF184 RAD21 GATA3 NR2F1 SPI1 GLUD1P2 PTPN20 RBP3 ZNF488 lnc-ANXA8-3
GH10J047104 Enhancer 0.6 Ensembl ENCODE 4.4 +194.5 194522 3.8 SPI1 RXRA MYC MAX SP1 GLUD1P2 RBP3 GDF10 GDF2 PTPN20 lnc-PTPN20-5 lnc-PTPN20-6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTPN20 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTPN20

Genomic Locations for PTPN20 Gene

Genomic Locations for PTPN20 Gene
chr10:46,911,372-47,003,829
(GRCh38/hg38)
Size:
92,458 bases
Orientation:
Plus strand
chr10:46,549,955-46,641,045
(GRCh37/hg19)
Size:
91,091 bases
Orientation:
Minus strand

Genomic View for PTPN20 Gene

Genes around PTPN20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPN20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPN20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPN20 Gene

Proteins for PTPN20 Gene

  • Protein details for PTPN20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4JDL3-PTN20_HUMAN
    Recommended name:
    Tyrosine-protein phosphatase non-receptor type 20
    Protein Accession:
    Q4JDL3
    Secondary Accessions:
    • A6NNH8
    • B7ZKV3
    • Q4JDG6
    • Q4JDK1
    • Q4JDK5
    • Q4JDK6
    • Q4JDK8
    • Q4JDK9
    • Q4JDL0
    • Q4JDL1
    • Q4JDL4
    • Q4JDL5
    • Q4JDL6
    • Q4JDL7
    • Q4JDL8
    • Q5RJ33
    • Q5T1G3

    Protein attributes for PTPN20 Gene

    Size:
    420 amino acids
    Molecular mass:
    48423 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAW28797.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 9]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

neXtProt entry for PTPN20 Gene

Selected DME Specific Peptides for PTPN20 Gene

Q4JDL3:
  • YIATQGP
  • QRSGMVQT
  • VVHCSAG
  • HCSAGIGR

Post-translational modifications for PTPN20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PTPN20 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PTPN20 Gene

Gene Families for PTPN20 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PTPN20 Gene

InterPro:
Blocks:
  • Protein tyrosine phosphatase signature
ProtoNet:

Suggested Antigen Peptide Sequences for PTPN20 Gene

GenScript: Design optimal peptide antigens:
  • Tyrosine-protein phosphatase non-receptor type 20 (PTN20_HUMAN)
  • Non-receptor protein tyrosine phosphatase 20 variant 17 (Q4JDK3_HUMAN)
  • Protein tyrosine phosphatase, non-receptor type 20A (Q5T1G2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4JDL3

UniProtKB/Swiss-Prot:

PTN20_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
genes like me logo Genes that share domains with PTPN20: view

Function for PTPN20 Gene

Molecular function for PTPN20 Gene

UniProtKB/Swiss-Prot Function:
Tyrosine-protein phosphatase targeted to sites of actin polymerization in response of varied extracellular stimuli. Has tyrosine phosphatase activity towards various tyrosyl phosphorylated substrates.
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:0000255|PROSITE-ProRule:PRU10044, ECO:0000269|PubMed:15790311};.

Enzyme Numbers (IUBMB) for PTPN20 Gene

Phenotypes From GWAS Catalog for PTPN20 Gene

Gene Ontology (GO) - Molecular Function for PTPN20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IEA --
genes like me logo Genes that share ontologies with PTPN20: view
genes like me logo Genes that share phenotypes with PTPN20: view

Animal Models for PTPN20 Gene

MGI Knock Outs for PTPN20:
  • Ptpn20 Ptpn20<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for PTPN20

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPN20

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PTPN20 Gene

Localization for PTPN20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPN20 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with the microtubule-organizing center and intracellular membrane compartments.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTPN20 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
plasma membrane 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTPN20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PTPN20: view

Pathways & Interactions for PTPN20 Gene

PathCards logo

SuperPathways for PTPN20 Gene

SuperPathway Contained pathways
1 PAK Pathway
.36
.36
genes like me logo Genes that share pathways with PTPN20: view

Pathways by source for PTPN20 Gene

2 Qiagen pathways for PTPN20 Gene
  • Epithelial Adherens Junctions
  • Epithelial Adherens Junctions

Gene Ontology (GO) - Biological Process for PTPN20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0016311 dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0071345 cellular response to cytokine stimulus TAS --
genes like me logo Genes that share ontologies with PTPN20: view

No data available for SIGNOR curated interactions for PTPN20 Gene

Drugs & Compounds for PTPN20 Gene

(2) Drugs for PTPN20 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
genes like me logo Genes that share compounds with PTPN20: view

Transcripts for PTPN20 Gene

mRNA/cDNA for PTPN20 Gene

65 REFSEQ mRNAs :
29 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPN20

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTPN20 Gene

No ASD Table

Relevant External Links for PTPN20 Gene

GeneLoc Exon Structure for
PTPN20

Expression for PTPN20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTPN20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTPN20 Gene

This gene is overexpressed in Esophagus (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PTPN20 Gene



Protein tissue co-expression partners for PTPN20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTPN20

mRNA Expression by UniProt/SwissProt for PTPN20 Gene:

Q4JDL3-PTN20_HUMAN
Tissue specificity: Present in many cell lines (at protein level). Widely expressed.

Evidence on tissue expression from TISSUES for PTPN20 Gene

  • Heart(4)
  • Lung(4)
genes like me logo Genes that share expression patterns with PTPN20: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPN20 Gene

Orthologs for PTPN20 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PTPN20 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 100 (a)
OneToMany
PTPN20A 30
  • 99.44 (n)
Dog
(Canis familiaris)
Mammalia PTPN20B 30
  • 84.5 (n)
-- 31
  • 67 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia PTPN20B 30
  • 79.52 (n)
-- 31
  • 69 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ptpn20b 30
  • 78.6 (n)
Mouse
(Mus musculus)
Mammalia Ptpn20 30 17 31
  • 77.83 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 54 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 37 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 15 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 48 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii ptpn11b 31
  • 20 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea K07F5.8 31
  • 25 (a)
ManyToMany
F47B3.7 31
  • 23 (a)
ManyToMany
T27A3.5 31
  • 23 (a)
ManyToMany
ZK484.7 31
  • 23 (a)
ManyToMany
Y48G9A.9 31
  • 22 (a)
ManyToMany
F47B3.6 31
  • 22 (a)
ManyToMany
C55B7.3 31
  • 22 (a)
ManyToMany
F10G8.1 31
  • 21 (a)
ManyToMany
C17H12.3 31
  • 21 (a)
ManyToMany
F20H11.4 31
  • 20 (a)
ManyToMany
C02B10.6 31
  • 20 (a)
ManyToMany
C33H5.16 31
  • 20 (a)
ManyToMany
F47B3.1 31
  • 20 (a)
ManyToMany
F36H12.10 31
  • 20 (a)
ManyToMany
F55F8.7 31
  • 19 (a)
ManyToMany
F25H5.7 31
  • 17 (a)
ManyToMany
F36H1.3 31
  • 17 (a)
ManyToMany
T28F4.3 31
  • 17 (a)
ManyToMany
ZK354.8 31
  • 16 (a)
ManyToMany
M04G7.2 31
  • 16 (a)
ManyToMany
B0207.1 31
  • 14 (a)
ManyToMany
T22C1.8 31
  • 13 (a)
ManyToMany
ZK616.8 31
  • 13 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PTP1 30
  • 48.51 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0174800 30
  • 46.58 (n)
Species where no ortholog for PTPN20 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PTPN20 Gene

ENSEMBL:
Gene Tree for PTPN20 (if available)
TreeFam:
Gene Tree for PTPN20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTPN20: view image

Paralogs for PTPN20 Gene

(3) SIMAP similar genes for PTPN20 Gene using alignment to 1 proteins:

  • Q4JDK3_HUMAN

Pseudogenes.org Pseudogenes for PTPN20 Gene

genes like me logo Genes that share paralogs with PTPN20: view

Variants for PTPN20 Gene

Additional dbSNP identifiers (rs#s) for PTPN20 Gene

Structural Variations from Database of Genomic Variants (DGV) for PTPN20 Gene

Variant ID Type Subtype PubMed ID
dgv115e214 CNV gain 21293372
dgv124e214 CNV gain 21293372
dgv136e199 CNV deletion 23128226
dgv450n106 CNV deletion 24896259
dgv734n100 CNV gain 25217958
dgv737n100 CNV loss 25217958
dgv738n100 CNV loss 25217958
dgv739n100 CNV gain 25217958
dgv740n100 CNV gain+loss 25217958
nsv1068308 CNV deletion 25765185
nsv1068691 CNV deletion 25765185
nsv1069476 CNV deletion 25765185
nsv1143505 CNV deletion 24896259
nsv433259 CNV loss 18776910
nsv550716 CNV gain 21841781
nsv550717 CNV loss 21841781
nsv550718 CNV loss 21841781
nsv550719 CNV loss 21841781
nsv550720 CNV loss 21841781
nsv550803 CNV loss 21841781
nsv820767 CNV deletion 20802225
nsv820873 CNV deletion 20802225
nsv831849 CNV gain 17160897
nsv831850 CNV gain+loss 17160897
nsv831862 CNV gain 17160897
nsv8634 CNV gain+loss 18304495
nsv947921 CNV duplication 23825009
nsv947966 CNV duplication 23825009
nsv951589 CNV deletion 24416366
nsv951590 CNV deletion 24416366

Additional Variant Information for PTPN20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPN20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for PTPN20 Gene

Disorders for PTPN20 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PTPN20 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leopard syndrome 1
  • lprd1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PTPN20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTPN20 Gene

Publications for PTPN20 Gene

  1. Protein tyrosine phosphatase hPTPN20a is targeted to sites of actin polymerization. (PMID: 15790311) Fodero-Tavoletti MT … Tiganis T (The Biochemical journal 2005) 2 3 4
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A Human Tyrosine Phosphatase Interactome Mapped by Proteomic Profiling. (PMID: 28675297) Kumar P … Maddika S (Journal of proteome research 2017) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for PTPN20 Gene

Sources for PTPN20 Gene