The PTPN11 gene homepage

General information
Gene symbol PTPN11
Gene name protein tyrosine phosphatase, non-receptor type 11
Chromosome 12
Chromosomal band q24.1
Imprinted Unknown
Genomic reference NG_007459.1
Transcript reference NM_002834.3
Associated with diseases AML, ID, JMML, LPRD1, MDS, METCDS, MPD, NS, NS1, RMSE2, leukemia, acute, lymphoblastic
Citation reference(s) -
Curators (1) Mauno Vihinen
Total number of public variants reported 510
Unique public DNA variants reported 158
Individuals with public variants 345
Hidden variants 6
Download all this gene's data Download all data
Notes We gratefully acknowledge the efforts of Gerard Schaafsma, curating this database until 2021.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated December 03, 2023
Version PTPN11:231203

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 9644
Entrez Gene 5781
PubMed articles PTPN11
OMIM - Gene 176876
OMIM - Diseases AML (leukemia, myeloid, acute (AML))
LPRD1 (LEOPARD syndrome, type 1 (LPRD-1))
MDS (myelodysplastic syndrome (MDS))
METCDS (metachondromatosis (METCDS))
NS1 (Noonan syndrome, type 1 (NS1))
RMSE2 (rhabdomyosarcoma, embryonal, type 2 (RMSE-2))
GeneCards PTPN11
GeneTests PTPN11
Orphanet PTPN11

Active transcripts




NCBI ID     

NCBI Protein ID     

00017145 12 protein tyrosine phosphatase, non-receptor type 11 NM_002834.3 NP_002825.3 510

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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