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Aliases for PTPN6 Gene

Aliases for PTPN6 Gene

  • Protein Tyrosine Phosphatase, Non-Receptor Type 6 2 3 5
  • Hematopoietic Cell Protein-Tyrosine Phosphatase 3 4
  • Protein-Tyrosine Phosphatase SHP-1 3 4
  • Protein-Tyrosine Phosphatase 1C 3 4
  • EC 3.1.3.48 4 63
  • SH-PTP1 3 4
  • PTP-1C 3 4
  • HCP 3 4
  • Hematopoietic Cell Phosphatase 3
  • HPTP1C 3
  • SHP-1L 3
  • SHP-1 3
  • PTP1C 4
  • SHP1 3
  • HCPH 3

External Ids for PTPN6 Gene

Previous GeneCards Identifiers for PTPN6 Gene

  • GC12M007143
  • GC12M007227
  • GC12P006935
  • GC12P006926
  • GC12P006911
  • GC12P007055
  • GC12P007018
  • GC12P007071

Summaries for PTPN6 Gene

Entrez Gene Summary for PTPN6 Gene

  • 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]

GeneCards Summary for PTPN6 Gene

PTPN6 (Protein Tyrosine Phosphatase, Non-Receptor Type 6) is a Protein Coding gene. Diseases associated with PTPN6 include cd45 deficiency and hemophagocytic lymphohistiocytosis. Among its related pathways are Adherens junction and B cell receptor signaling pathway (KEGG). GO annotations related to this gene include protein kinase binding and SH3 domain binding. An important paralog of this gene is PTPRO.

UniProtKB/Swiss-Prot for PTPN6 Gene

  • Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II stimulation. Plays a key role in hematopoiesis.

Tocris Summary for PTPN6 Gene

  • 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.

Gene Wiki entry for PTPN6 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPN6 Gene

Genomics for PTPN6 Gene

Regulatory Elements for PTPN6 Gene

Enhancers for PTPN6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PTPN6 on UCSC Golden Path with GeneCards custom track

Promoters for PTPN6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PTPN6 on UCSC Golden Path with GeneCards custom track

Genomic Location for PTPN6 Gene

Chromosome:
12
Start:
6,946,468 bp from pter
End:
6,961,316 bp from pter
Size:
14,849 bases
Orientation:
Plus strand

Genomic View for PTPN6 Gene

Genes around PTPN6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPN6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPN6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPN6 Gene

Proteins for PTPN6 Gene

  • Protein details for PTPN6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29350-PTN6_HUMAN
    Recommended name:
    Tyrosine-protein phosphatase non-receptor type 6
    Protein Accession:
    P29350
    Secondary Accessions:
    • A8K306
    • G3V0F8
    • Q969V8
    • Q9UK67

    Protein attributes for PTPN6 Gene

    Size:
    595 amino acids
    Molecular mass:
    67561 Da
    Quaternary structure:
    • Monomer. Interacts with MTUS1 (By similarity). Interacts with MILR1 (tyrosine-phosphorylated). Interacts with KIT (By similarity). Binds PTPNS1, LILRB1 and LILRB2. Interacts with FCRL2, FCRL3, FCRL4, CD300LF, CDK2 and CD84. Interacts with KIR2DL1; the interaction is enhanced by ARRB2. Interacts (via SH2 1 domain) with ROS1; the interaction is direct and promotes ROS1 dephosphorylation. Interacts with EGFR; inhibits EGFR-dependent activation of MAPK/ERK. Interacts with LYN. Interacts with the tyrosine phosphorylated form of PDPK1.

    Three dimensional structures from OCA and Proteopedia for PTPN6 Gene

    Alternative splice isoforms for PTPN6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPN6 Gene

Proteomics data for PTPN6 Gene at MOPED

Post-translational modifications for PTPN6 Gene

  • Phosphorylated on tyrosine residues. Binding of KITLG/SCF to KIT increases tyrosine phosphorylation (By similarity). Phosphorylation at Tyr-564 enhances phosphatase activity.
  • Ubiquitination at Lys 277, Lys 308, and Lys 391
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PTPN6 (SHP-1)

Protein Products

Domains & Families for PTPN6 Gene

Graphical View of Domain Structure for InterPro Entry

P29350

UniProtKB/Swiss-Prot:

PTN6_HUMAN :
  • The N-terminal SH2 domain functions as an auto-inhibitory domain, blocking the catalytic domain in the ligand-free close conformation.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 2 subfamily.
Domain:
  • The N-terminal SH2 domain functions as an auto-inhibitory domain, blocking the catalytic domain in the ligand-free close conformation.
  • Contains 2 SH2 domains.
  • Contains 1 tyrosine-protein phosphatase domain.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 2 subfamily.
genes like me logo Genes that share domains with PTPN6: view

Function for PTPN6 Gene

Molecular function for PTPN6 Gene

GENATLAS Biochemistry:
protein tyrosine phosphatase,non receptor type 6,with two SH2 domains,expressed in hematopoietic cells,overexpressed in neutrophils cells from patients with severe congenital neutropenia (defective dephosphorylation of proteins involved in signaling pathways)
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II stimulation. Plays a key role in hematopoiesis.

Enzyme Numbers (IUBMB) for PTPN6 Gene

Gene Ontology (GO) - Molecular Function for PTPN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity IDA 11266449
genes like me logo Genes that share ontologies with PTPN6: view
genes like me logo Genes that share phenotypes with PTPN6: view

Animal Model Products

miRNA for PTPN6 Gene

miRTarBase miRNAs that target PTPN6

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PTPN6 Gene

Localization for PTPN6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPN6 Gene

Cytoplasm. Nucleus. Note=In neurons, translocates into the nucleus after treatment with angiotensin II (By similarity). Shuttles between the cytoplasm and nucleus via its association with PDPK1. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTPN6 Gene COMPARTMENTS Subcellular localization image for PTPN6 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
plasma membrane 3
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for PTPN6 Gene

Pathways & Interactions for PTPN6 Gene

genes like me logo Genes that share pathways with PTPN6: view

SIGNOR curated interactions for PTPN6 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PTPN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006470 protein dephosphorylation IEA,IDA 11266449
GO:0008284 positive regulation of cell proliferation IMP 19749791
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IMP 19838216
GO:0018108 peptidyl-tyrosine phosphorylation IDA 9285411
genes like me logo Genes that share ontologies with PTPN6: view

Drugs & Compounds for PTPN6 Gene

(22) Drugs for PTPN6 Gene - From: ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
sodium orthovanadate Pharma PTP inhibitor, Protein tyrosine phosphatase inhibitor 0
Etidronate Pharma Osteoclast function modifiers (important in bone metastasis) 0

(30) Additional Compounds for PTPN6 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
BVT 948
39674-97-0
NSC 87877
56990-57-9

(5) Tocris Compounds for PTPN6 Gene

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

(1) ApexBio Compounds for PTPN6 Gene

Compound Action Cas Number
Etidronate 2809-21-4
genes like me logo Genes that share compounds with PTPN6: view

Drug Products

Transcripts for PTPN6 Gene

mRNA/cDNA for PTPN6 Gene

Unigene Clusters for PTPN6 Gene

Protein tyrosine phosphatase, non-receptor type 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PTPN6 Gene

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:

Relevant External Links for PTPN6 Gene

GeneLoc Exon Structure for
PTPN6
ECgene alternative splicing isoforms for
PTPN6

Expression for PTPN6 Gene

mRNA expression in normal human tissues for PTPN6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTPN6 Gene

This gene is overexpressed in Whole Blood (x21.6) and Spleen (x5.7).

Protein differential expression in normal tissues from HIPED for PTPN6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.0), Lymph node (10.7), Blymphocyte (8.6), and Monocytes (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PTPN6 Gene



SOURCE GeneReport for Unigene cluster for PTPN6 Gene Hs.63489

mRNA Expression by UniProt/SwissProt for PTPN6 Gene

P29350-PTN6_HUMAN
Tissue specificity: Isoform 1 is expressed in hematopoietic cells. Isoform 2 is expressed in non-hematopoietic cells.
genes like me logo Genes that share expression patterns with PTPN6: view

Protein tissue co-expression partners for PTPN6 Gene

- Elite partner

In Situ Assay Products

Orthologs for PTPN6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPN6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PTPN6 35
  • 91.41 (n)
  • 96.1 (a)
PTPN6 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTPN6 35
  • 91.22 (n)
  • 96.11 (a)
PTPN6 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptpn6 35
  • 89.13 (n)
  • 94.43 (a)
Ptpn6 16
Ptpn6 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PTPN6 35
  • 99.5 (n)
  • 99.83 (a)
PTPN6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptpn6 35
  • 89.82 (n)
  • 94.13 (a)
oppossum
(Monodelphis domestica)
Mammalia PTPN6 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTPN6 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPN6 35
  • 75.17 (n)
  • 81.97 (a)
PTPN6 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPN6 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptpn6 35
  • 64.26 (n)
  • 63.4 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
ptpn6 35
  • 64.3 (n)
  • 66.96 (a)
ptpn6 36
  • 58 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10340 35
fruit fly
(Drosophila melanogaster)
Insecta csw 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C55B7.3 37
  • 32 (a)
F47B3.1 37
  • 35 (a)
F47B3.6 37
  • 35 (a)
F47B3.7 37
  • 35 (a)
ptp-2 37
  • 36 (a)
Y48G9A.9 37
  • 34 (a)
ptp-2 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for PTPN6:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 PTPN6 Gene

ENSEMBL:
Gene Tree for PTPN6 (if available)
TreeFam:
Gene Tree for PTPN6 (if available)

Paralogs for PTPN6 Gene

genes like me logo Genes that share paralogs with PTPN6: view

Variants for PTPN6 Gene

Sequence variations from dbSNP and Humsavar for PTPN6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2071079 -- 6,958,392(+) AGGCC(A/G)GGCAG intron-variant
rs2110071 -- 6,956,413(+) CTTGC(A/G)TCCAG intron-variant
rs2110072 -- 6,956,472(+) CAGGG(C/T)TGTCT nc-transcript-variant, reference, synonymous-codon
rs12826402 -- 6,948,872(+) cccag(A/G)aggcg intron-variant
rs12826563 -- 6,948,889(+) gcagt(A/G)agccg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTPN6 Gene

Variant ID Type Subtype PubMed ID
nsv898641 CNV Loss 21882294
nsv509453 CNV Insertion 20534489
nsv513351 CNV Insertion 21212237
esv994245 CNV Insertion 20482838

Variation tolerance for PTPN6 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTPN6 Gene

HapMap Linkage Disequilibrium report
PTPN6
Human Gene Mutation Database (HGMD)
PTPN6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPN6 Gene

Disorders for PTPN6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PTPN6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cd45 deficiency
hemophagocytic lymphohistiocytosis
  • haemophagocytic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PTPN6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PTPN6

Genetic Association Database (GAD)
PTPN6
Human Genome Epidemiology (HuGE) Navigator
PTPN6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTPN6
genes like me logo Genes that share disorders with PTPN6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTPN6 Gene

Publications for PTPN6 Gene

  1. Human 70-kDa SHP-1L differs from 68-kDa SHP-1 in its C-terminal structure and catalytic activity. (PMID: 10497187) Jin Y.J. … Burakoff S.J. (J. Biol. Chem. 1999) 3 4 23 67
  2. Calpain-dependent cleavage of SHP-1 and SHP-2 is involved in the dephosphorylation of Jurkat T cells induced by Entamoeba histolytica. (PMID: 20398180) Kim K.A. … Shin M.H. (Parasite Immunol. 2010) 3 23
  3. Knockdown of protein tyrosine phosphatase SHP-1 inhibits G1/S progression in prostate cancer cells through the regulation of components of the cell-cycle machinery. (PMID: 19838216) RodrA-guez-Ubreva F.J. … ColA!s B. (Oncogene 2010) 3 23
  4. Contribution of SHP-1 protein tyrosine phosphatase to osmotic regulation of the transcription factor TonEBP/OREBP. (PMID: 20351292) Zhou X. … Ferraris J.D. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 23
  5. [Effect of a methylation inhibitor 5-aza-2'-deoxycytidine on SHP-1 gene expression, proliferation and apoptosis in K562 cells]. (PMID: 19379557) Luo J.M. … Dong Z.R. (Zhongguo Shi Yan Xue Ye Xue Za Zhi 2009) 3 23

Products for PTPN6 Gene

  • Addgene plasmids for PTPN6

Sources for PTPN6 Gene

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