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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:121268596-121329460 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 61.72 cM, cytoband F
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1307 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99511
 protein coding gene Chr5:121268596-121329460 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030022
 protein coding gene Chr5:124584505-124648648 (-)
A/J MGP_AJ_G0029987
 protein coding gene Chr5:119467235-119528714 (-)
AKR/J MGP_AKRJ_G0029925
 protein coding gene Chr5:123320416-123384914 (-)
BALB/cJ MGP_BALBcJ_G0029998
 protein coding gene Chr5:120848677-120910256 (-)
C3H/HeJ MGP_C3HHeJ_G0029716
 protein coding gene Chr5:123883197-123956573 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030451
 protein coding gene Chr5:129328985-129398244 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027677
 protein coding gene Chr5:114142688-114205572 (-)
CAST/EiJ MGP_CASTEiJ_G0029124
 protein coding gene Chr5:122989051-123056793 (-)
CBA/J MGP_CBAJ_G0029685
 protein coding gene Chr5:134393408-134476889 (-)
DBA/2J MGP_DBA2J_G0029835
 protein coding gene Chr5:119538235-119600275 (-)
FVB/NJ MGP_FVBNJ_G0029792
 protein coding gene Chr5:118469387-118541819 (-)
LP/J MGP_LPJ_G0029924
 protein coding gene Chr5:125106089-125172590 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029822
 protein coding gene Chr5:138293416-138365080 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030492
 protein coding gene Chr5:122830377-122893287 (-)
PWK/PhJ MGP_PWKPhJ_G0028838
 protein coding gene Chr5:118295621-118359487 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028675
 protein coding gene Chr5:120613187-120674029 (-)
WSB/EiJ MGP_WSBEiJ_G0029199
 protein coding gene Chr5:123498568-123564164 (-)



Homology
more
  • Human Ortholog
    PTPN11, protein tyrosine phosphatase non-receptor type 11
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PTPN11, protein tyrosine phosphatase non-receptor type 11
  • 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; chr12:112418351-112509918 (+)  GRCh38
Human Diseases
more
  • Diseases
    8 with Ptpn11 mouse models; 9 with human PTPN11 associations

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

  • Mutations/Alleles
    9 with disease annotations
  • References
    13 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    307 phenotypes from 22 alleles in 46 genetic backgrounds
    67 phenotypes from multigenic genotypes
    7 images
    207 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. Conditional KO in the eye results in severe retinal degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    162
  • GO References
    47
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    822
  • Tissues
    87
  • cDNA Data
    209
  • Literature Summary
    37
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19247 NCBI Gene Model | MGI Sequence Detail 60865 C57BL/6J ±  kb
    transcript NM_011202 RefSeq | MGI Sequence Detail 5628 C57BL/6  
    polypeptide P35235 UniProt | EBI | MGI Sequence Detail 593 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 213
      Genomic 1
      cDNA 210
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-16288, MGI:1919896, MGI:2141206
    References
    more
    • Summaries
      All 363
      Developmental Gene Expression 37
      Diseases 13
      Gene Ontology 47
      Phenotypes 207
    • 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:350494 Perrin S, et al., MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells. Sci Transl Med. 2024 Jun 26;16(753):eadj1597
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory