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Ptpn11 Gene Detail
Summary
  • Symbol
    Ptpn11
  • Name
    protein tyrosine phosphatase, non-receptor type 11
  • Synonyms
    2700084A17Rik, PTP1D, PTP2C, SH2 domain-containing protein tyrosine phosphatase-2, Shp2, SHP-2, SH-PTP2, Syp
  • Feature Type
    protein coding gene
  • IDs
    MGI:99511
    NCBI Gene: 19247
  • Gene Overview
    MyGene.info: PTPN11
Location & Maps
more
  • Sequence Map
    Chr5:121130533-121191397 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      60865 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 61.72 cM, cytoband F
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    PTPN11, protein tyrosine phosphatase, non-receptor type 11
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PTPN11, protein tyrosine phosphatase, non-receptor type 11
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SHP2, SH-PTP2, SH-PTP3
  • Links
    NCBI Gene ID: 5781
    neXtProt AC: NX_Q06124
    UniProt: Q06124

  • Chr Location
    12q24.13; chr12:112418732-112509913 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with Ptpn11 mouse models; 3 with human PTPN11 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 3 models
IDs
View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    10 with disease annotations
  • References
    16 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    239 phenotypes from 20 alleles in 40 genetic backgrounds
    91 phenotypes from multigenic genotypes
    3 images
    126 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mutants exhibit abnormal mesoderm patterning leading to a failure of gastrulation and death by embryonic day 10.5. In heterozygous state the null mutant acts as a dominant enhancer of a mild epidermal growth factor receptor mutation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016267 VEGA Gene Model | MGI Sequence Detail 60865 C57BL/6J ±  kb
transcript OTTMUST00000138887 VEGA | MGI Sequence Detail 5535 Not Applicable  
polypeptide OTTMUSP00000072964 VEGA | MGI Sequence Detail 597 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    85 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 212
    Genomic 1
    cDNA 209
    Primer pair 2

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-16288, MGI:1919896, MGI:2141206
References
more
  • Summaries
    All 226
    Developmental Gene Expression 27
    Diseases 16
    Gene Ontology 35
    Phenotypes 126
  • Earliest
    J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
  • Latest
    J:239412 Dong L, et al., Leukaemogenic effects of Ptpn11 activating mutations in the stem cell microenvironment. Nature. 2016 Nov 10;539(7628):304-308

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/23/2017
MGI 6.09
The Jackson Laboratory