LongevityMap Gene
Gene details
- HGNC symbol
- PTPN11
- Aliases
- CFC; NS1; JMML; SHP2; BPTP3; PTP2C; METCDS; PTP-1D; SH-PTP2; SH-PTP3
- Common name
- protein tyrosine phosphatase, non-receptor type 11
- Description
- 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]
- Cytogenetic Location
- 12q24.13
- UCSC Genome Browser
- View 12q24.13 on the UCSC genome browser
- OMIM
- 176876
- Ensembl
- ENSG00000179295
- UniProt/Swiss-Prot
- PTN11_HUMAN
- Entrez Gene
- 5781
- UniGene
- 506852
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- ptp-2
- Danio rerio
- ptpn11a
- Drosophila melanogaster
- csw
- Mus musculus
- Ptpn11
- Rattus norvegicus
- Ptpn11
- Schizosaccharomyces pombe
- pyp3
In other databases
- GenAge human genes
- This gene is present as PTPN11
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
- Indentifier
- rs11066301
- Reference