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
CELE_ZK616.8
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