DUSP22

Chr 6

dual specificity phosphatase 22

Also known as: JKAP, JSP-1, JSP1, LMW-DSP2, LMWDSP2, MKP-x, MKPX, VHX

NCBI Gene: 56940 ENSG00000112679 UniProt: Q9NRW4

The protein functions as a dual specificity phosphatase that dephosphorylates both tyrosine and serine/threonine residues, playing a key role in regulating T-cell receptor signaling and immune responses by inactivating tyrosine kinase LCK and inducing degradation of E3 ubiquitin ligase UBR2. DUSP22 mutations cause intellectual developmental disorder with seizures and language delay, which follows an autosomal dominant inheritance pattern. This gene shows low constraint against loss-of-function variants (pLI 0.009, LOEUF 0.934), indicating that complete loss of function may be well-tolerated.

ResearchSummary from RefSeq, UniProt

Enables phosphoprotein phosphatase activity; protein tyrosine kinase binding activity; and protein tyrosine kinase inhibitor activity. Involved in several processes, including cellular response to epidermal growth factor stimulus; negative regulation of T cell receptor signaling pathway; and negative regulation of focal adhesion assembly. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in cytoplasm and leading edge of lamellipodium. Part of filamentous actin. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.93

LOEUF

Multiple*

Mechanism· predicted