Ptpn11 (GeneID: 19247) | Mus musculus
Description: protein tyrosine phosphatase, non-receptor type 11 [Source:MGI Symbol;Acc:MGI:99511]
Synonyms: SH-PTP3, PTP1D, 2700084A17Rik, Shp2, SH-PTP2, AW536184, SHP-2, PTP2C, AP-2, Syp
Other ID(s): MGI:99511, ENSMUSG00000043733
Protein Accession Numbers: NP_035332, NP_001103462
Statistics: ClinVar(346) PTM(53)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000351677 ENST00000392597 ENST00000530818 NP_001317366 You are here now! NP_001361554 NP_002825 NP_542168


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00017 SH2 SH2 domain 112-197 CL0541 SH2-like Homo sapiens
PF00017 SH2 SH2 domain 6-81 CL0541 SH2-like Homo sapiens
PF00102 Y_phosphatase Protein-tyrosine phosphatase 273-520 CL0031 Phosphatase Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Adenocarcinoma Neoplasms ; 0.429 0.828
Astrocytoma Neoplasms ; 0.429 0.828
Squamous cell carcinoma Neoplasms ; 0.429 0.828
Hypertrophic Cardiomyopathy Cardiovascular Diseases ; 0.429 0.828
Charcot-Marie-Tooth Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.429 0.828
Cytopenia N/A 0.429 0.828
Enchondromatosis Musculoskeletal Diseases ; 0.429 0.828
Hereditary Multiple Exostoses Neoplasms ; Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.429 0.828
Hydrops Fetalis Female Urogenital Diseases and Pregnancy Complications ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Immune System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.429 0.828
leukemia Neoplasms ; 0.429 0.828
Leukemia, Myelocytic, Acute Neoplasms ; 0.429 0.828
Leukemia, Myelomonocytic, Chronic Neoplasms ; Hemic and Lymphatic Diseases ; 0.429 0.828
Maffucci Syndrome Musculoskeletal Diseases ; 0.429 0.828
Acute Myeloid Leukemia, M1 Neoplasms ; 0.429 0.828
Myelomonocytic leukemia N/A 0.429 0.828
Neuroblastoma Neoplasms ; 0.429 0.828
Neurofibromatosis 1 Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.429 0.828
Noonan Syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.429 0.828
Cartilaginous exostosis Neoplasms ; Musculoskeletal Diseases ; 0.429 0.828
Osteogenesis Imperfecta Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.429 0.828
Turner Syndrome, Male Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.429 0.828
Congenital anemia N/A 0.429 0.828
LEOPARD Syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.429 0.828
Adenocarcinoma, Basal Cell Neoplasms ; 0.429 0.828
Adenocarcinoma, Oxyphilic Neoplasms ; 0.429 0.828
Carcinoma, Cribriform Neoplasms ; 0.429 0.828
Carcinoma, Granular Cell Neoplasms ; 0.429 0.828
Adenocarcinoma, Tubular Neoplasms ; 0.429 0.828
Subependymal Giant Cell Astrocytoma Neoplasms ; 0.429 0.828
Multiple pterygium syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Pathological Conditions, Signs and Symptoms ; 0.429 0.828
Juvenile Pilocytic Astrocytoma Neoplasms ; 0.429 0.828
Diffuse Astrocytoma Neoplasms ; 0.429 0.828
Anaplastic astrocytoma Neoplasms ; 0.429 0.828
Protoplasmic astrocytoma Neoplasms ; 0.429 0.828
Gemistocytic astrocytoma Neoplasms ; 0.429 0.828
Fibrillary Astrocytoma Neoplasms ; 0.429 0.828
Pilocytic Astrocytoma Neoplasms ; 0.429 0.828
Childhood Cerebral Astrocytoma Neoplasms ; 0.429 0.828
Juvenile Myelomonocytic Leukemia Neoplasms ; Hemic and Lymphatic Diseases ; 0.429 0.828
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.429 0.828
Metachondromatosis Neoplasms ; Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.429 0.828
Mixed oligoastrocytoma Neoplasms ; 0.429 0.828
Costello syndrome (disorder) Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.429 0.828
Cerebral Astrocytoma Neoplasms ; 0.429 0.828
Intracranial Astrocytoma Neoplasms ; 0.429 0.828
Cardio-facio-cutaneous syndrome Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Pathological Conditions, Signs and Symptoms ; 0.429 0.828
Female Pseudo-Turner Syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.429 0.828
Neurodevelopmental Disorders Mental Disorders ; 0.429 0.828
Grade I Astrocytoma Neoplasms ; 0.429 0.828
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.429 0.828
MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases ; 0.429 0.828
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.429 0.828
NO RESULT FOUND
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