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Aliases for PTPN11 Gene

Aliases for PTPN11 Gene

  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 2 3 5
  • Protein-Tyrosine Phosphatase 1D 3 4
  • Protein-Tyrosine Phosphatase 2C 3 4
  • SH-PTP2 3 4
  • SH-PTP3 3 4
  • PTP-1D 3 4
  • PTP-2C 3 4
  • PTP2C 3 4
  • Tyrosine-Protein Phosphatase Non-Receptor Type 11 3
  • Noonan Syndrome 1 2
  • EC 4
  • METCDS 3
  • SHPTP2 4
  • BPTP3 3
  • SHP-2 4
  • JMML 3
  • SHP2 3
  • Shp2 4
  • CFC 3
  • NS1 3

External Ids for PTPN11 Gene

Previous HGNC Symbols for PTPN11 Gene

  • NS1

Previous GeneCards Identifiers for PTPN11 Gene

  • GC12P111712
  • GC12P112333
  • GC12P112639
  • GC12P111268
  • GC12P111319
  • GC12P112856
  • GC12P109868

Summaries for PTPN11 Gene

Entrez Gene Summary for PTPN11 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. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]

CIViC summary for PTPN11 Gene

GeneCards Summary for PTPN11 Gene

PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11) is a Protein Coding gene. Diseases associated with PTPN11 include Noonan Syndrome 1 and Juvenile Myelomonocytic Leukemia. Among its related pathways are Immune response Fc epsilon RI pathway and EGF/EGFR Signaling Pathway. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and protein tyrosine phosphatase activity. An important paralog of this gene is PTPN6.

UniProtKB/Swiss-Prot for PTPN11 Gene

  • Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Positively regulates MAPK signal transduction pathway (PubMed:28074573). Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2 at Tyr-722 resulting in stimulatation of its RhoA binding activity. Dephosphorylates CDC73 (PubMed:26742426).

Tocris Summary for PTPN11 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 PTPN11 Gene

Additional gene information for PTPN11 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPN11 Gene

Genomics for PTPN11 Gene

GeneHancer (GH) Regulatory Elements for PTPN11 Gene

Promoters and enhancers for PTPN11 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J112417 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.8 798 2.4 HDGF CLOCK ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ATXN2 PTPN11 RPL6 ADAM1A PCNPP1 TMEM116 GC12M112409
GH12J112407 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 0.4 -9.6 -9618 3 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B RPL6 MAPKAPK5 ADAM1A SLC8B1 NAA25 DDX54 RPS2P41 TMEM116 PTPN11 GC12M112409
GH12J112413 Enhancer 0.7 ENCODE 0.7 -3.9 -3938 1.6 MEIS2 LEF1 TEAD4 TAL1 FOSL1 TCF12 NCOR1 ADNP CBFA2T2 NFE2 PTPN11 RPL6 GC12M112409 HECTD4
GH12J112422 Enhancer 0.6 ENCODE 0.7 +4.4 4371 0.3 SP1 ATF3 RXRA MAX HNF4A RAD21 NR2F2 YY1 GC12M112409 PTPN11 GC12P112434
GH12J112386 Enhancer 1.2 Ensembl ENCODE 0.3 -31.0 -31005 1.3 HDGF SIN3A ZNF2 YY1 E2F8 ZNF416 ZNF143 DEK SP3 REST HECTD4 ATXN2 ADAM1A NAA25 GC12P112372 PTPN11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTPN11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTPN11 gene promoter:
  • STAT3
  • AP-2alpha isoform 2
  • AP-2alpha
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for PTPN11 Gene

Genomic Locations for PTPN11 Gene
91,568 bases
Plus strand
91,563 bases
Plus strand

Genomic View for PTPN11 Gene

Genes around PTPN11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPN11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPN11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPN11 Gene

Proteins for PTPN11 Gene

  • Protein details for PTPN11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tyrosine-protein phosphatase non-receptor type 11
    Protein Accession:
    Secondary Accessions:
    • A8K1D9
    • Q96HD7

    Protein attributes for PTPN11 Gene

    597 amino acids
    Molecular mass:
    68436 Da
    Quaternary structure:
    • Interacts with phosphorylated LIME1 and BCAR3. Interacts with SHB and INPP5D/SHIP1 (By similarity). Interacts with MILR1 (tyrosine-phosphorylated). Interacts with FLT1 (tyrosine-phosphorylated), FLT3 (tyrosine-phosphorylated), FLT4 (tyrosine-phosphorylated), KIT and GRB2. Interacts with PDGFRA (tyrosine phosphorylated). Interacts (via SH2 domain) with TEK/TIE2 (tyrosine phosphorylated) (By similarity). Interacts with PTPNS1 and CD84. Interacts with phosphorylated SIT1 and MPZL1. Interacts with FCRL4, FCRL6 and ANKHD1. Interacts with KIR2DL1; the interaction is enhanced by ARRB2. Interacts with GAB2. Interacts with TERT; the interaction retains TERT in the nucleus. Interacts with PECAM1 and FER. Interacts with EPHA2 (activated); participates in PTK2/FAK1 dephosphorylation in EPHA2 downstream signaling. Interacts with ROS1; mediates PTPN11 phosphorylation. Interacts with PDGFRB (tyrosine phosphorylated); this interaction increases the PTPN11 phosphatase activity. Interacts with GAREM1 isoform 1 (tyrosine phosphorylated); the interaction increases MAPK/ERK activity and does not affect the GRB2/SOS complex formation. Interacts with CDC73 (PubMed:26742426). Interacts with CEACAM1 (via cytoplasmic domain); this interaction depends on the monomer/dimer equilibrium and is phosphorylation-dependent (By similarity). Interacts with MPIG6B (via ITIM motif) (PubMed:23112346). Interacts with SIGLEC10 (By similarity). Interacts with FCRL3 (via phosphorylated ITIM motifs) (PubMed:11162587, PubMed:19843936).

    Three dimensional structures from OCA and Proteopedia for PTPN11 Gene

    Alternative splice isoforms for PTPN11 Gene


neXtProt entry for PTPN11 Gene

Post-translational modifications for PTPN11 Gene

  • Phosphorylated on Tyr-546 and Tyr-584 upon receptor protein tyrosine kinase activation; which creates a binding site for 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 PDGFRB.
  • Ubiquitination at posLast=594594
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for PTPN11

Protein Products

  • Abcam proteins for PTPN11

No data available for DME Specific Peptides for PTPN11 Gene

Domains & Families for PTPN11 Gene

Gene Families for PTPN11 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • The SH2 domains repress phosphatase activity. Binding of these domains to phosphotyrosine-containing proteins relieves this auto-inhibition, possibly by inducing a conformational change in the enzyme.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 2 subfamily.
  • The SH2 domains repress phosphatase activity. Binding of these domains to phosphotyrosine-containing proteins relieves this auto-inhibition, possibly by inducing a conformational change in the enzyme.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 2 subfamily.
genes like me logo Genes that share domains with PTPN11: view

Function for PTPN11 Gene

Molecular function for PTPN11 Gene

UniProtKB/Swiss-Prot Function:
Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Positively regulates MAPK signal transduction pathway (PubMed:28074573). Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2 at Tyr-722 resulting in stimulatation of its RhoA binding activity. Dephosphorylates CDC73 (PubMed:26742426).
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
GENATLAS Biochemistry:
protein tyrosine phosphatase,non receptor type 11,with two SH2 domains,expressed in heart,brain,skeletal muscle with homology to Drosophila corkscrew,involved in intracellular signal transduction in response to PDGF,EGF,insulin,interacting with protein zero related (PZR) for cell signaling,overexpressed in neutrophils cells from patients with severe congenital neutropenia (defective dephosphorylation of proteins involved in signaling pathways)

Enzyme Numbers (IUBMB) for PTPN11 Gene

Phenotypes From GWAS Catalog for PTPN11 Gene

Gene Ontology (GO) - Molecular Function for PTPN11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue binding IPI 11986327
GO:0004721 phosphoprotein phosphatase activity IDA,IEA 15133037
GO:0004725 protein tyrosine phosphatase activity IEA,TAS --
GO:0004726 non-membrane spanning protein tyrosine phosphatase activity TAS --
GO:0005070 SH3/SH2 adaptor activity IPI 7493946
genes like me logo Genes that share ontologies with PTPN11: view
genes like me logo Genes that share phenotypes with PTPN11: view

Human Phenotype Ontology for PTPN11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTPN11 Gene

MGI Knock Outs for PTPN11:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PTPN11 Gene

Localization for PTPN11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPN11 Gene

Cytoplasm. Nucleus.

Subcellular locations from

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 PTPN11 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
cytoskeleton 3
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
  • Nucleus (3)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTPN11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15133037
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 10940933
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS,IEA --
genes like me logo Genes that share ontologies with PTPN11: view

Pathways & Interactions for PTPN11 Gene

SuperPathways for PTPN11 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 PI3K/AKT activation
4 Negative regulation of FGFR1 signaling
5 Activated TLR4 signalling
genes like me logo Genes that share pathways with PTPN11: view

Pathways by source for PTPN11 Gene

SIGNOR curated interactions for PTPN11 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PTPN11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IEA --
GO:0000187 activation of MAPK activity IEA --
GO:0006470 protein dephosphorylation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006641 triglyceride metabolic process IEA --
genes like me logo Genes that share ontologies with PTPN11: view

Drugs & Compounds for PTPN11 Gene

(44) Drugs for PTPN11 Gene - From: DrugBank, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Dodecane-Trimethylamine Experimental Pharma Target 0
BVT 948 Pharma PTPs inhibitor,cell-permeable and non-competitve, Non-competitive protein tyrosine phosphatase inhibitor; enhances insulin signaling 0
NSC 87877 Pharma Shp2 /shp1 PTP inhibitor, Potent inhibitor of shp2 and shp1 PTP 0

(25) Additional Compounds for PTPN11 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid

(5) Tocris Compounds for PTPN11 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
genes like me logo Genes that share compounds with PTPN11: view

Transcripts for PTPN11 Gene

mRNA/cDNA for PTPN11 Gene

Unigene Clusters for PTPN11 Gene

Protein tyrosine phosphatase, non-receptor type 11:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTPN11 Gene

No ASD Table

Relevant External Links for PTPN11 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PTPN11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTPN11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTPN11 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.9), Frontal cortex (8.0), and Breast (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTPN11 Gene

Protein tissue co-expression partners for PTPN11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTPN11 Gene:


SOURCE GeneReport for Unigene cluster for PTPN11 Gene:


mRNA Expression by UniProt/SwissProt for PTPN11 Gene:

Tissue specificity: Widely expressed, with highest levels in heart, brain, and skeletal muscle.

Evidence on tissue expression from TISSUES for PTPN11 Gene

  • Nervous system(4.9)
  • Blood(4.6)
  • Liver(4.6)
  • Eye(4.4)
  • Heart(3.1)
  • Muscle(3)
  • Kidney(2.8)
  • Bone marrow(2.7)
  • Lung(2.7)
  • Skin(2.7)
  • Spleen(2.7)
  • Stomach(2.6)
  • Intestine(2.2)
  • Lymph node(2.2)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPN11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • scalp
  • skull
  • tooth
  • aorta
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • kidney
  • liver
  • spleen
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PTPN11: view

No data available for mRNA differential expression in normal tissues for PTPN11 Gene

Orthologs for PTPN11 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPN11 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PTPN11 34 33
  • 99.71 (n)
(Monodelphis domestica)
Mammalia PTPN11 34
  • 98 (a)
(Ornithorhynchus anatinus)
Mammalia PTPN11 34
  • 98 (a)
(Canis familiaris)
Mammalia PTPN11 34 33
  • 93.93 (n)
(Bos Taurus)
Mammalia PTPN11 34 33
  • 93.54 (n)
(Rattus norvegicus)
Mammalia Ptpn11 33
  • 87.46 (n)
(Mus musculus)
Mammalia Ptpn11 16 34 33
  • 87.24 (n)
(Gallus gallus)
Aves PTPN11 34 33
  • 85.33 (n)
(Anolis carolinensis)
Reptilia PTPN11 34
  • 97 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.936 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16002 33
(Danio rerio)
Actinopterygii ptpn11a 34 33
  • 77.68 (n)
wufi24f03 33
fruit fly
(Drosophila melanogaster)
Insecta csw 34 35 33
  • 61.59 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002438 33
  • 60.06 (n)
(Caenorhabditis elegans)
Secernentea F47B3.7 35
  • 34 (a)
ptp-2 34 35
  • 32 (a)
C55B7.3 35
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
Cin.6771 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6771 33
Species where no ortholog for PTPN11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 PTPN11 Gene

Gene Tree for PTPN11 (if available)
Gene Tree for PTPN11 (if available)
Evolutionary constrained regions (ECRs) for PTPN11: view image

Paralogs for PTPN11 Gene

Paralogs for PTPN11 Gene

(18) SIMAP similar genes for PTPN11 Gene using alignment to 6 proteins:

  • H0YF12_HUMAN
  • Q96I26_HUMAN
genes like me logo Genes that share paralogs with PTPN11: view

Variants for PTPN11 Gene

Sequence variations from dbSNP and Humsavar for PTPN11 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1028419374 uncertain-significance, Noonan syndrome with multiple lentigines, Noonan syndrome, Metachondromatosis 112,418,973(+) G/A/C/T 5_prime_UTR_variant
rs1052382672 uncertain-significance, Rasopathy 112,450,347(+) T/C coding_sequence_variant, missense_variant
rs1060502526 uncertain-significance, Rasopathy 112,502,219(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1060502527 uncertain-significance, Rasopathy 112,453,280(+) A/T coding_sequence_variant, missense_variant
rs112287134 likely-benign, Noonan syndrome, Noonan syndrome with multiple lentigines, Metachondromatosis 112,506,462(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PTPN11 Gene

Variant ID Type Subtype PubMed ID
dgv1557n100 CNV loss 25217958
esv2661618 CNV deletion 23128226
esv2746369 CNV deletion 23290073
esv3412436 CNV insertion 20981092
esv3580466 CNV loss 25503493
esv3630778 CNV loss 21293372
nsv1040646 CNV gain 25217958
nsv1043127 CNV gain 25217958
nsv1050197 CNV gain 25217958
nsv1119986 CNV deletion 24896259
nsv1119987 CNV deletion 24896259
nsv1122766 CNV deletion 24896259
nsv1134263 CNV deletion 24896259
nsv889 CNV deletion 18451855
nsv973121 CNV duplication 23825009
nsv973122 CNV duplication 23825009
nsv973123 CNV duplication 23825009

Variation tolerance for PTPN11 Gene

Residual Variation Intolerance Score: 17.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTPN11 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPN11 Gene

Disorders for PTPN11 Gene

MalaCards: The human disease database

(62) MalaCards diseases for PTPN11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • LEOPARD syndrome 1 (LPRD1) [MIM:151100]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269 PubMed:12058348, ECO:0000269 PubMed:14961557, ECO:0000269 PubMed:15121796, ECO:0000269 PubMed:15389709, ECO:0000269 PubMed:15520399, ECO:0000269 PubMed:15690106, ECO:0000269 PubMed:16679933, ECO:0000269 PubMed:16733669, ECO:0000269 PubMed:24891296, ECO:0000269 PubMed:26742426}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Noonan syndrome 1 (NS1) [MIM:163950]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints. {ECO:0000269 PubMed:11704759, ECO:0000269 PubMed:11992261, ECO:0000269 PubMed:12161469, ECO:0000269 PubMed:12325025, ECO:0000269 PubMed:12529711, ECO:0000269 PubMed:12634870, ECO:0000269 PubMed:12717436, ECO:0000269 PubMed:12739139, ECO:0000269 PubMed:12960218, ECO:0000269 PubMed:15384080, ECO:0000269 PubMed:15889278, ECO:0000269 PubMed:15948193, ECO:0000269 PubMed:19020799, ECO:0000269 PubMed:24891296, ECO:0000269 PubMed:28074573}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in PTPN11 account for more than 50% of the cases.
  • Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. {ECO:0000269 PubMed:12717436, ECO:0000269 PubMed:26742426}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Metachondromatosis (MC) [MIM:156250]: A skeletal disorder with radiologic features of both multiple exostoses and Ollier disease, characterized by the presence of exostoses, commonly of the bones of the hands and feet, and enchondromas of the metaphyses of long bones and iliac crest. {ECO:0000269 PubMed:20577567}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PTPN11

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for PTPN11 Gene

Publications for PTPN11 Gene

  1. Identification of a human src homology 2-containing protein-tyrosine-phosphatase: a putative homolog of Drosophila corkscrew. (PMID: 1280823) Freeman RM … Neel BG (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 22 58
  2. Salicylic acid based small molecule inhibitor for the oncogenic Src homology-2 domain containing protein tyrosine phosphatase-2 (SHP2). (PMID: 20170098) Zhang X … Zhang ZY (Journal of medicinal chemistry 2010) 3 4 22 58
  3. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (PMID: 19206169) Sarkozy A … Tartaglia M (Human mutation 2009) 3 22 44 58
  4. Polymorphisms of PTPN11 coding SHP-2 as biomarkers for ulcerative colitis susceptibility in the Japanese population. (PMID: 19160029) Narumi Y … Tsukamoto K (Journal of clinical immunology 2009) 3 22 44 58
  5. Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. (PMID: 19047918) Yoshida N … Kojima S (Pediatric research 2009) 3 22 44 58

Products for PTPN11 Gene