PTPN11 Gene
protein-coding GIFtS: 73
GCID: GC12P112856
|
|
protein tyrosine phosphatase, non-receptor type 11(Previous name: Noonan syndrome 1 ) (Previous symbol: NS1)
| |
Aliases for PTPN11 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Protein Tyrosine Phosphatase, Non-Receptor Type 111 2 | | PTP-1D2 3 | | PTP2C1 2 3 5 | | PTP-2C2 3 | | SH-PTP21 2 3 | | SH-PTP32 3 | | NS11 2 5 | | EC 3.1.3.483 8 | | SHP21 2 5 | | Noonan Syndrome 11 | | BPTP31 2 | | CFC2 | | SHP-21 3 | | Tyrosine-Protein Phosphatase Non-Receptor Type 112 | | Protein-Tyrosine Phosphatase 1D2 3 | | SHPTP23 | | Protein-Tyrosine Phosphatase 2C2 3 | | Shp23 |
Export aliases for PTPN11 gene to outside databasesPrevious GC identifers: GC12P111712 GC12P112333 GC12P112639 GC12P111268 GC12P111319 GC12P109868 |
Summaries for PTPN11 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for PTPN11: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to besignaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitoticcycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function asphospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widelyexpressed in most tissues and plays a regulatory role in various cell signaling events that are important for adiversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cellmigration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. Two transcriptvariants encoding different isoforms have been found for this gene. (provided by RefSeq, May 2012) UniProtKB/Swiss-Prot: PTN11_HUMAN, Q06124Function: Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signaltransduction from the cell surface to the nucleus. Dephosphorylates ROCK2 at Tyr-722 resulting in stimulatation of itsRhoA binding activity
summary
for 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 kinases and phosphorylases and therefore play an integral role in many signal transduction pathways. PTPs are cysteine-dependent phosphatases that contain a conserved C[X]5R motif essential for enzymatic activity. PTPs are currently divided into five subtypes; tyrosine-specific phosphatases (e.g. PTP1B), dual specificity phosphatases (DSPs) (e.g. DUSP1), Cdc25 phosphatases (e.g. Cdc25A), myotubularin-related phosphatases (e.g. MTMR13) and low molecular weight phosphatases (e.g. PTPase A). Perturbations in PTP activity has been implicated in human diseases, including type II diabetes. PTPs have been identified as a negative regulator of the insulin signaling by dephosphorylating phosphotyrosine residues of insulin receptor kinase. In cancers, PTPs dephosphorylate EGFR, JAK2 and TYK2 kinases, promoting oncogenic transformation. Gene Wiki entry for PTPN11
|
Genomic Views for PTPN11 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_009775.17
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PTPN11 gene promoter: AP-2alpha isoform 3 STAT3 AP-2alpha isoform 4 AP-2alpha isoform 2 AP-2alpha AP-2alphaA Other transcription factors
Search SABiosciences Chromatin IP Primers for PTPN11
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTPN11 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q24 Ensembl cytogenetic band: 12q24.13 HGNC cytogenetic band: 12q24.1PTPN11 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P112856: view genomic region
(about GC identifiers)
Start:
|
112,856,155 bp from pter |
End:
|
112,947,717 bp from pter |
Size:
|
91,563 bases |
Orientation:
|
plus strand |
|
Proteins for PTPN11 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: PTN11_HUMAN, Q06124 (See
protein sequence)Recommended Name: Tyrosine-protein phosphatase non-receptor type 11 Size: 597 amino acids; 68436 Da
Subunit: Interacts with phosphorylated LIME1 and BCAR3. Interacts with SHB and INPP5D/SHIP1 (By similarity). Interactswith MILR1 (tyrosine-phosphorylated). Interacts with FLT1 (tyrosine-phosphorylated), FLT3 (tyrosine-phosphorylated),FLT4 (tyrosine-phosphorylated), KIT and GRB2. Interacts with PDGFRA (tyrosine phosphorylated). Interacts (via SH2domain) with TEK/TIE2 (tyrosine phosphorylated) (By similarity). Interacts with PTPNS1 and CD84. Interacts withphosphorylated SIT1 and MPZL1. Interacts with FCRL3, FCRL4, FCRL6 and ANKHD1. Interacts with KIR2DL1; the interactionis enhanced by ARRB2. Interacts with GAB2. Interacts with TERT; the interaction retains TERT in the nucleus. Interactswith PECAM1 and FER. Interacts with EPHA2 (activated); participates in PTK2/FAK1 dephosphorylation in EPHA2 downstreamsignaling. Interacts with ROS1; mediates PTPN11 phosphorylation. Interacts with PDGFRB (tyrosine phosphorylated); thisinteraction increases the PTPN11 phosphatase activity. Interacts with GAREM isoform 1 (tyrosine phosphorylated); theinteraction increases MAPK/ERK activity and does not affect the GRB2/SOS complex formation
Subcellular location: Cytoplasm
6 PDB 3D structures from and Proteopedia for PTPN11:2SHP (3D)
  3B7O (3D)
  3MOW (3D)
  3O5X (3D)
  3TKZ (3D)
  3TL0 (3D)
 
Secondary accessions: A8K1D9 Q96HD7Alternative splicing: 3 isoforms: Q06124-1 Q06124-2 Q06124-3 Explore the universe of human proteins at neXtProt for PTPN11: NX_Q06124
Post-translational modifications:
Phosphorylated on Tyr-546 and Tyr-584 upon receptor protein tyrosine kinase activation; which creates a binding sitefor GRB2 and other SH2-containing proteins. Phosphorylated upon activation of the receptor-type kinase FLT3.Phosphorylated upon activation of the receptor-type kinase PDGFRA (By similarity). Phosphorylated by activated PDGFRB1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q06124 4/20 DME Specific Peptides for PTPN11 (Q06124) (see all 20)
PTPN11 Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins (2 alternative transcripts):
NP_002825.3 NP_542168.1 ENSEMBL proteins: ENSP00000376376 ENSP00000340944 ENSP00000437013 Reactome Protein details: Q06124 Human Recombinant Protein Products for PTPN11:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
PTPN11 for ontologies About GeneDecksing
PTPN11 Antibody Products: Assay Products for PTPN11: |
Protein
Domains / Families for PTPN11 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PTPN11 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q06124ProtoNet protein and cluster: Q06124 2 Blocks protein families: IPB000242 Protein tyrosine phosphatase signature IPB000980 SH2 domain signature
UniProtKB/Swiss-Prot: PTN11_HUMAN, Q06124Domain: The SH2 domains repress phosphatase activity. Binding of these domains to phosphotyrosine-containing proteinsrelieves this auto-inhibition, possibly by inducing a conformational change in the enzymeSimilarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class 2 subfamilySimilarity: Contains 2 SH2 domainsSimilarity: Contains 1 tyrosine-protein phosphatase domain |
Function for PTPN11 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: PTN11_HUMAN, Q06124Function: Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signaltransduction from the cell surface to the nucleus. Dephosphorylates ROCK2 at Tyr-722 resulting in stimulatation of itsRhoA binding activityCatalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate Genatlas biochemistry entry for PTPN11:protein tyrosine phosphatase,non receptor type 11,with two SH2 domains,expressed in heart,brain,skeletal muscle withhomology to Drosophila corkscrew,involved in intracellular signal transduction in response toPDGF,EGF,insulin,interacting with protein zero related (PZR) for cell signaling,overexpressed in neutrophils cellsfrom patients with severe congenital neutropenia (defective dephosphorylation of proteins involved in signalingpathways) Enzyme Number (IUBMB): EC 3.1.3.481 2
Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table
PTPN11 for ontologies About GeneDecksing
Phenotypes: 4 GenomeRNAi human phenotypes for PTPN11: 15/26 MGI mutant phenotypes (inferred from 16 alleles ) (MGI details for Ptpn11) (see all 26):
PTPN11 for phenotypes About GeneDecksing
Animal Models: Mouse knock-outs for PTPN11: Ptpn11tm1Rbn Ptpn11tm2Bgn Ptpn11tm1.2Cbm Ptpn11tm1Paw
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTPN11 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTPN11 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PTPN11 (NM_002834) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PTPN11 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPN11  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN11 |
|
Pathways & Interactions for PTPN11 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/88 super-pathways (see all 88) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Signaling by FGFR | | | 2 | PIP3 activates AKT signaling | | | 3 | Development_CNTF receptor signaling | | | 4 | IRS-related events | | | 5 | Development HGF signaling pathway | |
Pathway sources See GeneCards unified pathways Show all pathways
5/22 EMD Millipore Pathways for PTPN11 (see all 22) 1 R&D Systems Pathway for PTPN11 1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PTPN11 3
Cell Signaling Technology (CST) Pathways for PTPN11 5/24 GeneGo (Thomson Reuters) Pathways for PTPN11 (see all 24) 5/44 BioSystems Pathways for PTPN11 (see all 44) 
5/67
Reactome Pathways for PTPN11 (see all 67)
5/8
Kegg Pathways (Kegg details for PTPN11) (see all 8):
PTPN11 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTPN11
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/329 Interacting proteins for PTPN11 (Q061241, 2, 3 ENSP000003409444) via UniProtKB, MINT, STRING, and/or I2D (see all 329)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| GAB1 | Q134801, 2, 3, ENSP000002629954 | EBI-297779,EBI-517684 MINT-6169355 MINT-6169300 MINT-6169451 MINT-6169344 MINT-8025571 MINT-8029574 MINT-6169406 MINT-6169374 MINT-8029606 MINT-8288652 MINT-8025555 MINT-7026140 MINT-6169338 MINT-6169389 MINT-6169309 MINT-6169327 MINT-6169291 MINT-8029590 I2D:
score=10 STRING: ENSP00000262995 | | GRB2 | P629931, 2, 3, ENSP000003390074 | EBI-297779,EBI-401755 MINT-7300447 MINT-61552 I2D:
score=11 STRING: ENSP00000339007 | | PECAM1 | P162842, 3 | MINT-8033280 MINT-8033310 MINT-8031339 MINT-8033235 MINT-8031324 MINT-8031354 MINT-8033295 I2D:
score=3 | | CCKBR | P322392, 3, ENSP000003355444 | MINT-3381499 MINT-3381756 MINT-8037752 MINT-3381410 MINT-3381872 I2D:
score=2 STRING: ENSP00000335544 | | EGFR | P005332, 3, ENSP000002754934 | MINT-61484 MINT-61492 MINT-61488 MINT-74689 I2D:
score=6 STRING: ENSP00000275493 | About this table
Gene Ontology (GO): 5/36 biological process terms (GO ID links to tree view) (see all 36): About this table
PTPN11 for ontologies About GeneDecksing
|
Drugs & Compounds for PTPN11 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PTPN11 for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for PTPN11 |
Compounds for PTPN11 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| NSC 87877 | Potent inhibitor of shp2 and shp1 PTP | [56990-57-9] |
2 HMDB Compounds for PTPN11 About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| Phosphate | - NFB Orthophosphate
- O-phosphoric acid
- Ortho-phosphate
- Orthophosphate (PO43-)
- Orthophosphate(3-)
- Phosphate
- Phosphate (PO43-)
- Phosphate anion(3-)
- Phosphate ion (PO43-)
- Phosphate ion(3-)
- Phosphate trianion
- Phosphate(3-)
- Phosphoric acid ion(3-);Pi
(see top 1) | 14265-44-2 | -- | | Water | (see top 1) | 7732-18-5 | -- |
1 DrugBank Compound for PTPN11 About this table
10/59 Novoseek chemical compound relationships for PTPN11 gene (see all 59) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tyrosine |
89.3 |
917 |
9129156 (6), 9582366 (6), 7629070 (6), 19275884 (5) (see all 99) |
| phosphotyrosine |
82 |
54 |
12731888 (2), 11684012 (2), 7681217 (1), 8890167 (1) (see all 41) |
| gp 130 |
72.8 |
61 |
10946280 (4), 12593670 (4), 9285712 (3), 12403768 (3) (see all 26) |
| phosphatidylinositol |
69.5 |
62 |
9632795 (3), 8647870 (3), 9565634 (2), 10397152 (2) (see all 45) |
| phenylalanine |
47.8 |
12 |
8622663 (1), 8943348 (1), 9756938 (1), 8959326 (1) (see all 10) |
| phenylarsine oxide |
47.7 |
2 |
7935386 (1) |
| inositol |
46.3 |
17 |
10651806 (1), 11709085 (1), 10623804 (1), 17984366 (1) (see all 16) |
| ly294002 |
44.4 |
2 |
14762163 (1), 11335710 (1) |
| sodium orthovanadate |
42.6 |
1 |
10540326 (1) |
| echistatin |
41.1 |
5 |
12399420 (3), 16195423 (1) |
Search CenterWatch for drugs/clinical trials and news about PTPN11 / PTN11 
|
Transcripts for PTPN11 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for PTPN11 gene (2 alternative transcripts): NM_002834.3 NM_080601.1 Unigene Cluster for PTPN11: Protein tyrosine phosphatase, non-receptor type 11 Hs.506852 [show with all ESTs]Unigene Representative Sequence: NM_0028344 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000531326 ENST00000392597(uc001ttw.1) ENST00000351677(uc001ttx.3) ENST00000530818
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTPN11 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTPN11 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PTPN11 (NM_002834) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PTPN11 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPN11  |
Additional cDNA sequence: AK289854.1 AK312147.1 BC007869.2 BC008692.1 BC025181.1 BC030949.1 BT007106.1 BX537632.1 D13540.1 EU779706.1 EU779707.1 EU779708.1 L03535.1 L07527.1 L08807.1 S78088.1 U79291.1 X70766.1 18 DOTS entries: DT.411692 DT.99944225 DT.100733832 DT.91769243 DT.100656212 DT.121153732 DT.95354784 DT.121153765 DT.120647580 DT.70100615 DT.95127024 DT.100783460 DT.121153563 DT.121153748 DT.91871508 DT.92421803 DT.120843678 DT.99974908 24/1484 AceView cDNA sequences (see all 1484): CR605343 CD049940 BF102663 BG742360 BF365510 BF037064 CB122576 AV712841 BE542112 BE886762 BM550524 AA765096 BG898041 AA341207 BG284893 BI830346 BM794666 CD651903 AA364282 AA313299 BM873857 CB123159 AA382251 BE740256 GeneLoc Exon Structure
|
Expression for PTPN11 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PTPN11 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TAAATGTTGA
 About this image See PTPN11 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PTPN11
SOURCE GeneReport for Unigene cluster: Hs.506852
UniProtKB/Swiss-Prot: PTN11_HUMAN, Q06124Tissue specificity: Widely expressed, with highest levels in heart, brain, and skeletal muscle SABiosciences Expression via Pathway-Focused PCR Arrays including PTPN11:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PTPN11 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PTPN11 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PTPN11 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTPN11 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN11 |
Orthologs for PTPN11 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for PTPN11 gene from 6/21 species (see all 21) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
PTPN111 |
protein tyrosine phosphatase, non-receptor type 11 |
85.33(n) 98.31(a) |
  |
395815 NM_204968.1 NP_990299.1 |
lizard (Anolis carolinensis) |
Reptilia |
PTPN116 |
-- |
97(a) |
1 ↔ 1 |
GL343282.1(325780-343622) |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.9362 |
Xenopus laevis phosphotyrosyl-protein phosphatase mRNA, more |
82.68(n) |
  |
U15287.1 |
zebrafish (Danio rerio) |
Actinopterygii |
wufi24f032 |
wufi24f03 |
78.16(n) |
  |
333979 BC045328.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
csw1 , 3 |
EGF receptor signaling pathway protein tyrosine more3 corkscrew1 |
66(a)3 60.95(n)1 66.1(a)1 |
  |
452781 NM_057782.31 NP_477130.11 |
worm (Caenorhabditis elegans) |
Secernentea |
ptp-21 , 3 |
PROTEIN-TYROSINE PHOSPHATASE3 Protein Tyrosine Phosphatase1 |
37(a) (best of 3)3 50.63(n)1 44.31(a)1 |
  |
II(5918677-5920933)3 1740031 NM_062783.41 NP_495184.11 |
ENSEMBL Gene Tree for PTPN11 (if available) TreeFam Gene Tree for PTPN11 (if available)  |
Paralogs for PTPN11 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for PTPN11 gene
- PTPN72 PTPRH2 PTPN222 PTPRO2 PTPN62 PTPRJ2 PTPRQ2 PTPN182
- PTPN122 PTPN52 PTPRB2 PTPRR2
18/19 SIMAP similar genes for PTPN11 using alignment to 6 protein entries: PTN11_HUMAN (see all proteins)
(see all similar genes):PTPN6 GRB2 NCK1 GRAP2 VAV3 SHF RASA1 CLNK CSK VAV1 PIK3R3 SH2B2 HCK SHC4 MATK FYN LCK SYK
PTPN11 for paralogs About GeneDecksing
5/6 Pseudogenes.org Pseudogenes for PTPN11 (see all 6) PGOHUM00000244574 PGOHUM00000237709 PGOHUM00000245615 PGOHUM00000235162 PGOHUM00000243393
|
Genomic Variants for PTPN11 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 12 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for PTPN11 (112856155 - 112947717 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for PTPN11: -- Human Gene Mutation Database (HGMD): PTPN11
 | 5/16 SABiosciences Cancer Mutation PCR Assays for PTPN11 (see all 16): |
 | 5/6 SABiosciences Cancer Mutation PCR Arrays containing PTPN11 (see all 6): |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PTPN11 |
|
Disorders
/ Diseases for PTPN11 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PTPN11 for disorders About GeneDecksing
OMIM gene information: 176876 OMIM disorders: 163950 151100 607785 156250 UniProtKB/Swiss-Prot: PTN11_HUMAN, Q06124
Defects in PTPN11 are the cause of LEOPARD syndrome type 1 (LEOPARD1) [MIM:151100]. It is an autosomaldominant disorder allelic with Noonan syndrome. The acronym LEOPARD stands for lentigines, electrocardiographicconduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth,and deafness Defects in PTPN11 are the cause of Noonan syndrome type 1 (NS1) [MIM:163950]. Noonan syndrome (NS) is adisorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motordelay, and a bleeding diathesis. Some patients with Noonan syndrome type 1 develop multiple giant cell lesions of thejaw or other bony or soft tissues, which are classified as pigmented villomoduolar synovitis (PVNS) when occurring inthe jaw or joints. Note=Mutations in PTPN11 account for more than 50% of the cases. Rarely, NS is associated withjuvenile myelomonocytic leukemia (JMML). NS1 inheritance is autosomal dominant Defects in PTPN11 are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:607785]. JMML is a pediatricmyelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and2% of leukemia. It is characterized by leukocytosis with tissue infiltration and in vitro hypersensitivity of myeloidprogenitors to granulocyte-macrophage colony stimulating factor Defects in PTPN11 are a cause of metachondromatosis (MC) [MIM:156250]. It is a skeletal disorder withradiologic fetarures of both multiple exostoses and Ollier disease, characterized by the presence of multipleenchondromas and osteochondroma-like lesions 20/117 diseases for PTPN11 (see all 117): About MalaCardsnoonan syndrome cafe-au-lait spots acute myeloid leukemia noonan-like/multiple giant cell lesion syndrome myeloid leukemia noonan syndrome 1 neurofibromatosis-noonan syndrome leukemia hydrops fetalis dengue hemorrhagic fever pulmonary valve stenosis hypersensitivity reaction type ii disease juvenile myelomonocytic leukemia myelomonocytic leukemia patent ductus arteriosus leopard syndrome hemorrhagic fever developmental disabilities short stature pulmonic stenosis
10 diseases from the University of Copenhagen DISEASES database for PTPN11:Noonan syndrome LEOPARD syndrome Juvenile myelomonocytic leukemia Pulmonary valve stenosis Costello syndrome Hypertrophic cardiomyopathy Congenital heart defect Leukemia Cryptorchidism Gastritis 10/85 Novoseek disease relationships for PTPN11 gene (see all 85) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| noonan syndrome |
96.2 |
192 |
17020470 (4), 18348260 (4), 12161469 (4), 15985475 (3) (see all 99) |
| leopard syndrome |
93.4 |
63 |
15690106 (4), 16679933 (3), 14991917 (3), 16208280 (2) (see all 38) |
| juvenile myelomonocytic leukemia |
90.3 |
32 |
15928039 (2), 15604238 (2), 12717436 (2), 15211660 (2) (see all 26) |
| cfc syndrome |
88.7 |
10 |
18651097 (2), 12384786 (2), 12529707 (2), 20052757 (1) (see all 6) |
| neurofibromatosis-noonan syndrome |
82.8 |
3 |
17020470 (2), 19449407 (1) |
| lentigines |
79.1 |
5 |
19582499 (1), 15470362 (1), 16733669 (1), 18470943 (1) (see all 5) |
| short stature |
77.6 |
15 |
15985475 (1), 16498234 (1), 16804314 (1), 20383758 (1) (see all 15) |
| heart defects congenital |
70.3 |
12 |
18203203 (3), 16461457 (2), 12960218 (1), 20461756 (1) (see all 9) |
| pulmonary valve stenosis |
66.1 |
6 |
11992261 (1), 18678287 (1), 12522798 (1), 17515436 (1) (see all 5) |
| x-linked lymphoproliferative syndrome |
65.1 |
1 |
11313386 (1) |
GeneTests: PTPN11 LEOPARD SyndromeNoonan Syndrome Genetic Association Database (GAD): PTPN11 Human Genome Epidemiology (HuGE) Navigator: PTPN11 (48 documents) Export disorders for PTPN11 gene to outside databases
|
Publications for PTPN11 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PTPN11 gene, integrated from 9 sources (see all 1200): (articles sorted by number of sources associating them with PTPN11) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification of a human src homology 2-containing protein-tyrosine-phosphatase: a putative homolog of Drosophila corkscrew. (PubMed id 1280823)1, 2, 3, 9 Freeman R.M....Neel B.G. (1992)
- PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype- phenotype correlation, and phenotypic heterogeneity. (PubMed id 11992261)1, 2, 4, 9 Tartaglia M.... Gelb B.D. (2002)
- PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. (PubMed id 15956085)1, 4, 9 Ferreira L.V....Jorge A.A. (2005)
- Salicylic acid based small molecule inhibitor for the oncogenic Src homology-2 domain containing protein tyrosine phosphatase-2 (SHP 2). (PubMed id 20170098)1, 2, 9 Zhang X....Zhang Z.Y. (2010)
- PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. (PubMed id 19020799)1, 2, 9 Ko J.M....Yoo H.W. (2008)
- Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. (PubMed id 15690106)1, 2, 9 Kalidas K.... Jeffery S. (2005)
- Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). (PubMed id 16679933)1, 2, 9 Ucar C.... Heinritz W. (2006)
- Structural and functional dissection of the cytoplasmic domain of the transmembrane adaptor protein SIT (SHP2-interacting transmembrane adaptor protein). (PubMed id 11433379)1, 2, 9 Pfrepper K.-I.... Schraven B. (2001)
- Nuclear protein tyrosine phosphatase Shp-2 is one important negative regulator of nuclear export of telomerase reverse transcriptase. (PubMed id 18829466)1, 2, 9 Jakob S.... Haendeler J. (2008)
- The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. (PubMed id 15928039)1, 4, 9 Kratz C.P....Loh M.L. (2005)
|
External Searches for PTPN11 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing PTPN11 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PTPN11 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PTPN11 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
|
About This Section
| Patent Information for PTPN11 gene: Search GeneIP for patents involving PTPN11
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for PTPN11 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory) About This Section
|
 | |
 | |
 |
| | | | OriGene Antibodies for PTPN11 | | OriGene shRNA RFP for PTPN11 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTPN11 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PTPN11 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for PTPN11 | | OriGene 3'-UTR Clone for PTPN11 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTPN11 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTPN11 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for PTPN11 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for PTPN11 | | OriGene Custom Protein Services for PTPN11 | | OriGene Custom Immunoassay Development | | |
| |  |
 |
| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PTPN11 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PTPN11 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTPN11 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTPN11 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTPN11 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PTPN11 |
| |
 |  |  |  | |
| Antibodies & Assays for PTPN11  (SHP-2) |
| | | |  |  |  |  | | | | |
 |
 |
 |
 | | PTPN11 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN11 |
|  |  |  |  | | | ThermoFisher Antibodies for PTPN11 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPN11 |
| |  | |
|
|
|