DYNLT4

Chr 1

dynein light chain Tctex-type 4

Also known as: TCTEX1D4

NCBI Gene: 343521 ENSG00000188396 UniProt: Q5JR98

This gene encodes a dynein light chain protein that binds protein phosphatase 1 and is involved in microtubule-based cellular movement, with expression in sperm flagella and other cytoskeletal structures. The gene shows low constraint against loss-of-function variants (pLI 0.01, LOEUF 1.7), and no established human disease associations have been reported to date. DYNLT4 variants are not currently known to cause pediatric neurological disorders.

ResearchSummary from RefSeq

Enables protein phosphatase 1 binding activity. Predicted to be involved in microtubule-based movement. Located in several cellular components, including acrosomal vesicle; cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.71

Clinical Summary— DYNLT4

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Population Constraint (gnomAD)

Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

55 VUS of 61 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.71LOEUF

pLI 0.012

Z-score 0.48

OE 0.74 (0.33–1.71)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.79Z-score

OE missense 0.80 (0.67–0.94)

95 obs / 119.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.74 (0.33–1.71)

0≤0.351.4

Missense OE?0.80 (0.67–0.94)

0≤0.61.4

Synonymous OE?0.70

0≤1.21.6

LoF obs/exp: 3 / 4.0Missense obs/exp: 95 / 119.2Syn Z: 1.86

ClinVar Variant Classifications

61 submitted variants in ClinVar

ClinVar

Classification Summary

VUS55

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	55	0	55
Likely Benign	1	1	2
Benign	0	0	0
Total	56	1	57

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

View in ClinVar →

5 pathogenic / likely-pathogenic (of 11) ClinVar copy-number / structural variants overlap DYNLT4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →