DUSP14

Chr 17

dual specificity phosphatase 14

Also known as: MKP-L, MKP6

The protein is a dual-specificity phosphatase that inactivates MAP kinases (ERK, JNK, and p38) and negatively regulates T-cell receptor signaling by dephosphorylating the MAP3K7 adapter TAB1. This gene is not highly constrained against loss-of-function variants. No human diseases have been definitively associated with mutations in DUSP14 based on the provided information.

OMIMResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.17
Clinical SummaryDUSP14
Population Constraint (gnomAD)
Low constraint (pLI 0.12) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.17LOEUF
pLI 0.121
Z-score 1.35
OE 0.37 (0.151.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.45Z-score
OE missense 0.64 (0.530.77)
82 obs / 128.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.37 (0.151.17)
00.351.4
Missense OE0.64 (0.530.77)
00.61.4
Synonymous OE0.91
01.21.6
LoF obs/exp: 2 / 5.4Missense obs/exp: 82 / 128.2Syn Z: 0.51
DN
0.74top 25%
GOF
0.6931th %ile
LOF
0.2774th %ile

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.

DNprediction above median
GOFprediction above median

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DUSP14 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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