View 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, LPRD-1, MDS, MPD, NS, leukemia, acute, lymphoblastic, Metachondromatosis, Rhabdomyosarcoma, embryonal, 2
Citation reference(s) -
Curators (2) Gerard C.P. Schaafsma and Mauno Vihinen
Total number of public variants reported 263
Unique public DNA variants reported 47
Individuals with public variants 264
Hidden variants 4
Date created May 03, 2013
Date last updated November 25, 2016
Version PTPN11:161125

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
HGNC 9644
Entrez Gene 5781
PubMed articles PTPN11
OMIM - Gene 176876
OMIM - Diseases AML (leukemia, myeloid, acute (AML))
LPRD-1 (LEOPARD syndrome, type 1 (LPRD-1))
MDS (myelodysplastic syndrome (MDS))
NS (Noonan syndrome (NS))
Rhabdomyosarcoma, embryonal, 2

Active transcripts




NCBI ID     

NCBI Protein ID     

00017145 12 protein tyrosine phosphatase, non-receptor type 11 NM_002834.3 NP_002825.3 263