LongevityMap Gene

Gene details

HGNC symbol
DUSP6 
Aliases
HH19; MKP3; PYST1 
Common name
dual specificity phosphatase 6 
Description
The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
Cytogenetic Location
12q21.33
UCSC Genome Browser
View 12q21.33 on the UCSC genome browser
OMIM
602748
Ensembl
ENSG00000139318
UniProt/Swiss-Prot
A0A024RBC1_HUMAN
Entrez Gene
1848
UniGene
298654
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
dusp6
Mus musculus
Dusp6
Rattus norvegicus
Dusp6

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
German
Study Design
Targeted investigation of 500 SNPs in 343 selected genes associated with longevity in model systems. A sample of 386 unrelated German centenarians (mean age: 101.3 years) and 410 control subjects (mean age: 66.6 years) were studied.
Conclusions
No significant associations were found after correcting for multiple testing, though three SNPs (rs770087, rs2301582 and rs648802 in, respectively, DUSP6, NALP1 and PERP) had a suggestive association. This association was not confirmed in an independent French collection of 541 centenarians and 469 younger controls.
Indentifier
rs770087
Reference