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
- Caenorhabditis elegans
- lip-1
- Danio rerio
- dusp6
- Drosophila melanogaster
- Mkp3
- Mus musculus
- Dusp6
- Rattus norvegicus
- Dusp6
In other databases
- GenAge model organism genes
- A homolog of this gene for Caenorhabditis elegans is present as lip-1
- CellAge
- This gene is present as DUSP6
- CellAge gene expression
- This gene is present as 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