DUSP16

Chr 12

dual specificity phosphatase 16

Also known as: MKP-7, MKP7

NCBI Gene: 80824 ENSG00000111266 UniProt: Q9BY84

This gene encodes a dual specificity protein phosphatase that inactivates MAP kinases by dephosphorylating both serine/threonine and tyrosine residues, specifically regulating the JNK and ERK signaling pathways. Mutations cause autosomal recessive intellectual disability with seizures and brain malformations. The gene shows significant constraint against loss-of-function variants (LOEUF 0.502), suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

This gene encodes a mitogen-activated protein kinase phosphatase that 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. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429