PTPN11 protein tyrosine phosphatase non-receptor type 11
Gene ID: 5781, updated on 27-Nov-2024Gene type: protein coding
Also known as: CFC; NS1; JMML; SHP2; BPTP3; PTP2C; METCDS; PTP-1D; SH-PTP2; SH-PTP3
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- Go to complete Gene record for PTPN11
- Go to Variation Viewer for PTPN11 variants
Summary
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. GeneReviews: Not available | |
| Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. GeneReviews: Not available | |
| Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. GeneReviews: Not available | |
| Juvenile myelomonocytic leukemia | See labs |
| LEOPARD syndrome 1 | See labs |
| Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. GeneReviews: Not available | |
| Metachondromatosis | See labs |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Noonan syndrome MedGen: C0028326GeneReviews: Noonan Syndrome | See labs |
| Noonan syndrome 1 | See labs |
| Novel associations for hypothyroidism include known autoimmune risk loci. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-09-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12q24.13
- Sequence:
- Chromosome: 12; NC_000012.12 (112418947..112509918)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PTPN11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Catalogue of Somatic Mutations in Cancer (COSMIC)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NSEuroNet database - PTPN11
- OMIMLink to related OMIM entry
- PTPN11 database
- PTPN11base: Database for pathogenic mutations in the SHP-2 SH2 domain
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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