DUSP22

Chr 6

dual specificity phosphatase 22

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

NCBI Gene: 56940ENSG00000112679UniProt: Q9NRW4

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; leading edge of lamellipodium; and plasma membrane. Part of filamentous actin. [provided by Alliance of Genome Resources, Jul 2025]

204
ClinVar variants
54
Pathogenic / LP
0.01
pLI score
1
Active trials
Clinical Summary— DUSP22
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
54 Pathogenic / Likely Pathogenic· 39 VUS of 204 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.93LOEUF
pLI 0.009
Z-score 1.73
OE 0.44 (0.23–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.45Z-score
OE missense 0.87 (0.73–1.04)
84 obs / 96.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.44 (0.23–0.93)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.87 (0.73–1.04)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.03
0≤1.21.6
LoF obs/exp: 5 / 11.3Missense obs/exp: 84 / 96.5Syn Z: -0.12

ClinVar Variant Classifications

204 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic50
Likely Pathogenic4
VUS39
Likely Benign21
Benign90
50
Pathogenic
4
Likely Pathogenic
39
VUS
21
Likely Benign
90
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
50
0
50
Likely Pathogenic
0
0
4
0
4
VUS
0
31
8
0
39
Likely Benign
0
6
6
9
21
Benign
0
0
88
2
90
Total03715611204

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DUSP22 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Hepatocyte phosphatase DUSP22 mitigates NASH-HCC progression by targeting FAK.
Ge C et al.·Nat Commun
2022
Lymphomatoid papulosis.
Wagner G et al.·J Dtsch Dermatol Ges
2020Review
Primary cutaneous CD30+ lymphoproliferative disorders with DUSP22 translocation.
Montes-Moreno S·Pathologie (Heidelb)
2023Review
Lymphomatoid papulosis with DUSP22-IRF4 rearrangement: A case report and literature review.
Niu N et al.·J Cutan Pathol
2023Review
New developments in non-Hodgkin lymphoid malignancies.
Ganapathi KA et al.·Pathology
2021Review
Anaplastic large cell lymphomas with equivocal DUSP22 FISH results: recommendations for clinical reporting and diagnostic evaluation.
Fadl A et al.·Hum Pathol
2023
Immunohistochemical Approach to Genetic Subtyping of Anaplastic Large Cell Lymphoma.
Feldman AL et al.·Am J Surg Pathol
2022
New biomarkers in T-cell lymphomas.
Bisig B et al.·Best Pract Res Clin Haematol
2012Review
ALK-negative anaplastic large cell lymphoma with DUSP22 rearrangement has distinctive disease characteristics with better progression-free survival: a LYSA study.
Sibon D et al.·Haematologica
2023
Diagnosis and classification of hematologic malignancies on the basis of genetics.
Taylor J et al.·Blood
2017Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Dual Specificity Phosphatase (DUSP22) promoter hypomethylation in cell-free DNA is associated with rheumatoid arthritis and its radiographic severity.
Delgado-Cruzata L et al.·Front Med (Lausanne)
2026🔓 Open Access
DUSP22 dephosphorylates LGALS1 to enhance T cell-driven antitumor immunity.
Wang L et al.·J Immunother Cancer
2026🔓 Open Access
CD30-Positive Lymphoproliferative Disorder With DUSP22-IRF4 Rearrangement and Gamma-Delta T-Cell Phenotype: A Novel Indolent Presentation.
Bai H et al.·J Cutan Pathol
2026
Modulating phosphatase DUSP22 with BML-260 ameliorates skeletal muscle wasting via Akt independent JNK-FOXO3a repression.
Lee SH et al.·EMBO Mol Med
2025🔓 Open Access
Lymphomatoid Papulosis With DUSP22 Rearrangement in a Patient With a Historical Diagnosis of Primary Cutaneous Anaplastic Large Cell Lymphoma.
Monika F et al.·Cureus
2024🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Giant Cell ArteritisTemporal ArteritisClonal Hematopoiesis of Indeterminate Potential

Clonal Hematopoiesis in Giant Cell Arteritis

NOT YET RECRUITING
NCT06244069ASST Fatebenefratelli SaccoStarted 2024-03
Temporal arterial biopsyWhole exome sequencingSingle cell transcriptomics

External Resources

Links to major genomics databases and tools