PTPN11 Gene (Protein Coding)

Protein Tyrosine Phosphatase Non-Receptor Type 11

GC12P112418
GIFtS:
54
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 media... See more...

Aliases for PTPN11 Gene

Aliases for PTPN11 Gene

  • Protein Tyrosine Phosphatase Non-Receptor Type 11 2 3 5
  • SH-PTP2 2 3 4
  • PTP2C 2 3 4
  • SH2 Domain-Containing Protein Tyrosine Phosphatase 2 2 3
  • Tyrosine-Protein Phosphatase Non-Receptor Type 11 3 4
  • Protein-Tyrosine Phosphatase 1D 3 4
  • Protein-Tyrosine Phosphatase 2C 3 4
  • EC 3.1.3.48 4 50
  • SH-PTP3 3 4
  • PTP-1D 3 4
  • BPTP3 2 3
  • SHP-2 2 4
  • SHP2 2 3
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 2
  • Noonan Syndrome 1 2
  • METCDS 3
  • PTPN11 5
  • SHPTP2 4
  • PTP-2C 4
  • JMML 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 IL-23 signaling pathway and IL-6 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 Summary 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 (PubMed:10655584, PubMed:18559669, PubMed:18829466, PubMed:26742426, PubMed:28074573). Positively regulates MAPK signal transduction pathway (PubMed:28074573). Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulation of its RhoA binding activity (PubMed:18559669). Dephosphorylates CDC73 (PubMed:26742426). Dephosphorylates SOX9 on tyrosine residues, leading to inactivate SOX9 and promote ossification (By similarity).

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 , Rfam classification and piRNA Summary for PTPN11 Gene

Genomics for PTPN11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PTPN11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTPN11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTPN11

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

Genomic Locations for PTPN11 Gene

Latest Assembly
chr12:112,418,351-112,509,918
(GRCh38/hg38)
Size:
91,568 bases
Orientation:
Plus strand

Previous Assembly
chr12:112,856,751-112,947,722
(GRCh37/hg19 by Entrez Gene)
Size:
90,972 bases
Orientation:
Plus strand

chr12:112,856,155-112,947,717
(GRCh37/hg19 by Ensembl)
Size:
91,563 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for PTPN11 Gene

Proteins for PTPN11 Gene

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

    Protein Symbol:
    Q06124-PTN11_HUMAN
    Recommended name:
    Tyrosine-protein phosphatase non-receptor type 11
    Protein Accession:
    Q06124
    Secondary Accessions:
    • A8K1D9
    • Q96HD7

    Protein attributes for PTPN11 Gene

    Size:
    593 amino acids
    Molecular mass:
    68011 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

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPN11 Gene

Protein Expression for PTPN11 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PTPN11 Gene

Q06124:
  • KYDVGGGE
  • GFWEEFE
  • VIVMTTKEVERG
  • VTHIKIQN
  • QRSGMVQT
  • VVHCSAG
  • DQTSGDQSPLPPCTPTP
  • LKYPLNC
  • VQTEAQY
  • ELVQYYME
  • WPDHGVP
  • SRRWFHP
  • LSGKEAEKL
  • FDSLTDLVEH
  • GPVVVHCS
  • DPTSERW
  • HCSAGIGR
  • KNRYKNILP
  • QENSRVIVMTT
  • GSFLARPS

Post-translational modifications for PTPN11 Gene

  • Phosphorylated on Tyr-542 and Tyr-580 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 Lys590
  • Modification sites at PhosphoSitePlus

Other Protein References for PTPN11 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for PTPN11

Domains & Families for PTPN11 Gene

Gene Families for PTPN11 Gene

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

Protein Domains for PTPN11 Gene

InterPro:
Blocks:
  • SH2 domain signature
  • Protein tyrosine phosphatase signature

Suggested Antigen Peptide Sequences for PTPN11 Gene

GenScript: Design optimal peptide antigens:
  • Protein tyrosine phosphatase-2 (B3GUD3_HUMAN)
  • Protein tyrosine phosphatase-2 (B3GUD4_HUMAN)
  • Protein tyrosine phosphatase-2 (B3GUD5_HUMAN)
  • SH-PTP3 (PTN11_HUMAN)
  • cDNA, FLJ92431 (Q96I26_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q06124

UniProtKB/Swiss-Prot:

PTN11_HUMAN :
  • 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.
Domain:
  • 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.
Family:
  • 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

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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 (PubMed:10655584, PubMed:18559669, PubMed:18829466, PubMed:26742426, PubMed:28074573). Positively regulates MAPK signal transduction pathway (PubMed:28074573). Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulation of its RhoA binding activity (PubMed:18559669). Dephosphorylates CDC73 (PubMed:26742426). Dephosphorylates SOX9 on tyrosine residues, leading to inactivate SOX9 and promote ossification (By similarity).
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:20170098, ECO:0000269|PubMed:26742426, ECO:0000269|PubMed:28074573};.
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 IEA,IDA 15133037
GO:0004725 protein tyrosine phosphatase activity IEA,TAS --
GO:0004726 non-membrane spanning protein tyrosine phosphatase activity TAS --
GO:0005158 insulin receptor binding IEA,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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPN11

Clone products for research

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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli rim (3)
  • Nucleoplasm (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 IEA,IDA 10940933
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IEA,TAS --
genes like me logo Genes that share ontologies with PTPN11: view

Pathways & Interactions for PTPN11 Gene

PathCards logo

SuperPathways for PTPN11 Gene

SuperPathway Contained pathways
1 RET signaling
MAPK1/MAPK3 signaling
.95
Signaling by Leptin
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
2 Downstream signaling of activated FGFR2
Downstream signaling of activated FGFR3
.88
FRS-mediated FGFR2 signaling
.85
Downstream signaling of activated FGFR2
.83
FRS-mediated FGFR1 signaling
.83
Downstream signaling of activated FGFR4
.81
FRS-mediated FGFR4 signaling
.81
PI-3K cascade-FGFR2
.77
PI-3K cascade-FGFR1
.76
Downstream signaling of activated FGFR1
.74
FRS-mediated FGFR3 signaling
.01
PI-3K cascade-FGFR3
.01
PI-3K cascade-FGFR4
.01
3 PI3K/AKT activation
Negative regulation of the PI3K/AKT network
.93
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
.93
PIP3 activates AKT signaling
.91
Role of LAT2/NTAL/LAB on calcium mobilization
.91
GAB1 signalosome
.89
PI3K/AKT activation
.89
Constitutive Signaling by Aberrant PI3K in Cancer
.75
PI3K/AKT Signaling in Cancer
.72
4 Negative regulation of FGFR3 signaling
Signaling by FGFR3
.84
Signaling by FGFR4
.84
Negative regulation of FGFR3 signaling
.82
Negative regulation of FGFR4 signaling
.82
Negative regulation of FGFR1 signaling
.81
Negative regulation of FGFR2 signaling
.81
Signaling by FGFR1
.70
Spry regulation of FGF signaling
.01
5 Activated TLR4 signalling
Activated TLR4 signalling
.91
Toll Like Receptor 4 (TLR4) Cascade
.91
MyD88-independent TLR3/TLR4 cascade
.86
Toll Like Receptor 3 (TLR3) Cascade
.86
TRIF-mediated TLR3/TLR4 signaling
.86
Toll-Like Receptors Cascades
.82
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
.01
genes like me logo Genes that share pathways with PTPN11: view

Pathways by source for PTPN11 Gene

1 Sino Biological pathway for PTPN11 Gene
24 GeneGo (Thomson Reuters) pathways for PTPN11 Gene
  • Apoptosis and survival BAD phosphorylation
  • Cell adhesion_Cadherin-mediated cell adhesion
  • Chemotaxis CXCR4 signaling pathway
  • Development Angiopoietin - Tie2 signaling
  • Development CNTF receptor signaling
1 Qiagen pathway for PTPN11 Gene
  • Epithelial Adherens Junctions
2 Cell Signaling Technology pathways for PTPN11 Gene

SIGNOR curated interactions for PTPN11 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

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

Products:

  1. Drug products for research

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Osimertinib Approved Pharma 174
Water Approved Pharma 0
Dodecyltrimethylammonium Experimental Pharma Target 0
Imidazole Experimental, Investigational Pharma 66
Phosphate Experimental Pharma 0

(23) Additional Compounds for PTPN11 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
VO-OHpic
675848-25-6

(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

(3) ApexBio Compounds for PTPN11 Gene

Compound Action Cas Number
BVT 948 PTPs inhibitor,cell-permeable and non-competitve 39674-97-0
Etidronate 2809-21-4
NSC 87877 Shp2 /shp1 PTP inhibitor 56990-57-9
genes like me logo Genes that share compounds with PTPN11: view

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Transcripts for PTPN11 Gene

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mRNA/cDNA for PTPN11 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPN11

Clone products for research

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

No ASD Table

Relevant External Links for PTPN11 Gene

GeneLoc Exon Structure for
PTPN11

Expression for PTPN11 Gene

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

mRNA expression in normal human tissues for PTPN11 Gene
mRNA expression by GTEx for PTPN11 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTPN11

SOURCE GeneReport for Unigene cluster for PTPN11 Gene:

Hs.506852

mRNA Expression by UniProt/SwissProt for PTPN11 Gene:

Q06124-PTN11_HUMAN
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)
  • Liver(4.7)
  • Blood(4.7)
  • Eye(4.5)
  • Heart(3.4)
  • Muscle(3.2)
  • Spleen(3.2)
  • Kidney(3.1)
  • Skin(3)
  • Lung(2.9)
  • Intestine(2.9)
  • Lymph node(2.9)
  • Bone marrow(2.8)
  • Stomach(2.8)
  • Thyroid gland(2.5)
  • Adrenal gland(2.4)
  • Pancreas(2.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
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
Thorax:
  • aorta
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • kidney
  • liver
  • spleen
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • 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
General:
  • 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

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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
Chimpanzee
(Pan troglodytes)
 Mammalia PTPN11 29 30
  • 99.71 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PTPN11 30
  • 98 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PTPN11 30
  • 98 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PTPN11 29 30
  • 93.93 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PTPN11 29 30
  • 93.54 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ptpn11 29
  • 87.46 (n)
Mouse
(Mus musculus)
 Mammalia Ptpn11 29 16 30
  • 87.24 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves PTPN11 29 30
  • 85.33 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PTPN11 30
  • 97 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.936 29
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.16002 29
Zebrafish
(Danio rerio)
 Actinopterygii ptpn11a 29 30
  • 77.68 (n)
 OneToOne
wufi24f03 29
Fruit Fly
(Drosophila melanogaster)
 Insecta csw 29 30 31
  • 61.59 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002438 29
  • 60.06 (n)
Worm
(Caenorhabditis elegans)
 Secernentea F47B3.7 31
  • 34 (a)
ptp-2 30 31
  • 32 (a)
 OneToMany
C55B7.3 31
  • 31 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 62 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.6771 29
Species where no ortholog for PTPN11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

ENSEMBL:
Gene Tree for PTPN11 (if available)
TreeFam:
Gene Tree for PTPN11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTPN11: view image
Alliance of Genome Resources:
Additional Orthologs for PTPN11

Paralogs for PTPN11 Gene

Paralogs for PTPN11 Gene

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

  • PTN11_HUMAN
  • B3GUD3_HUMAN
  • B3GUD4_HUMAN
  • B3GUD5_HUMAN
  • H0YF12_HUMAN
  • Q96I26_HUMAN

Pseudogenes.org Pseudogenes for PTPN11 Gene

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

Variants for PTPN11 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTPN11 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1009214 Uncertain Significance: Rasopathy 112,478,014(+) A/G
NM_002834.5(PTPN11):c.1091A>G (p.Lys364Arg) 		MISSENSE
1017240 Uncertain Significance: Rasopathy 112,502,240(+) A/G
NM_002834.5(PTPN11):c.1696A>G (p.Thr566Ala) 		MISSENSE
1017354 Uncertain Significance: Rasopathy 112,456,040(+) C/G
NM_002834.5(PTPN11):c.733C>G (p.Gln245Glu) 		MISSENSE
1024113 Uncertain Significance: Rasopathy 112,453,332(+) A/G
NM_002834.5(PTPN11):c.470A>G (p.Lys157Arg) 		MISSENSE
1027635 Likely Benign: not specified 112,482,112(+) A/C
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PTPN11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
PTPN11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPN11
Leiden Open Variation Database (LOVD)
PTPN11

SNP Genotyping and Copy Number Assays for research

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

Disorders for PTPN11 Gene

MalaCards: The human disease database

(116) MalaCards diseases for PTPN11 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
noonan syndrome 1
  • ns1
juvenile myelomonocytic leukemia
  • jmml
metachondromatosis
  • metcds
leopard syndrome 1
  • lprd1
noonan syndrome with multiple lentigines
  • capute-rimoin-konigsmark-esterly-richardson syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PTN11_HUMAN
  • 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 variants 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 variants 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for PTPN11

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PTPN11: view

No data available for Genatlas for PTPN11 Gene

Publications for PTPN11 Gene

  1. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. (PMID: 19020799) Ko JM … Yoo HW (Journal of human genetics 2008) 3 4 22 40 72
  2. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID: 11992261) Tartaglia M … Gelb BD (American journal of human genetics 2002) 3 4 22 40 72
  3. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. (PMID: 20186801) Pierpont EI … Seidenberg MS (American journal of medical genetics. Part A 2010) 3 22 40 72
  4. 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 40 72
  5. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. (PMID: 18331608) Ferreira LV … Jorge AA (Clinical endocrinology 2008) 3 22 40 72

ExternalLinks

View latest publications for PTPN11 gene in Mastermind

Products for PTPN11 Gene