STYXL2

Chr 1

serine/threonine/tyrosine interacting like 2

Also known as: DUSP27

NCBI Gene: 92235 ENSG00000198842 UniProt: Q5VZP5 OMIM: 621374

This protein is predicted to function as a MAP kinase phosphatase that negatively regulates MAPK signaling and may be required for myofiber maturation in skeletal muscle. The gene shows extremely low constraint against loss-of-function variants (pLI near 0), suggesting that complete loss of function is well-tolerated in humans. No clearly established Mendelian diseases have been definitively linked to STYXL2 mutations in the current literature.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable MAP kinase phosphatase activity and protein tyrosine/serine/threonine phosphatase activity. Predicted to be involved in negative regulation of MAPK cascade. Predicted to be located in sarcomere. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.11

LOEUF

Multiple*

Mechanism· predicted