DCTN4

Chr 5

dynactin subunit 4

Also known as: DYN4, P62

NCBI Gene: 51164ENSG00000132912UniProt: Q9UJW0

Located in centrosome. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
2
Pubs (1 yr)
1.4
Missense Z
0.39
LOEUF
Clinical Summary— DCTN4
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.73) — some intolerance to loss-of-function variants.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.39LOEUF
pLI 0.732
Z-score 4.13
OE 0.20 (0.11–0.39)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.44Z-score
OE missense 0.75 (0.67–0.85)
207 obs / 274.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.20 (0.11–0.39)
0≤0.351.4
Missense OE0.75 (0.67–0.85)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 6 / 30.7Missense obs/exp: 207 / 274.3Syn Z: -0.42
LOF
DN
0.2698th %ile
GOF
0.2596th %ile
LOF
0.72top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.39

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

DCTN4 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients