DUSP21
Chr Xdual specificity phosphatase 21
Also known as: LMWDSP21
The protein is a dual specificity phosphatase that removes phosphate groups from phosphotyrosine and phosphothreonine residues and is a component of sperm flagellar doublet microtubules where it regulates sperm motility. Mutations cause autosomal recessive primary ciliary dyskinesia with reduced sperm motility. The gene shows low constraint to loss-of-function variants, consistent with its autosomal recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 70 | 0 | 70 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 15 | 6 | 0 | 21 |
Likely Benign | 0 | 4 | 0 | 0 | 4 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 19 | 81 | 0 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DUSP21 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools