DYNLT4

Chr 1

dynein light chain Tctex-type 4

Also known as: TCTEX1D4

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.

OMIMResearchSummary from RefSeq
LOEUF 1.71
Clinical SummaryDYNLT4
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
5 unique Pathogenic / Likely Pathogenic· 61 VUS of 72 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.71LOEUF
pLI 0.012
Z-score 0.48
OE 0.74 (0.331.71)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.79Z-score
OE missense 0.80 (0.670.94)
95 obs / 119.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.74 (0.331.71)
00.351.4
Missense OE0.80 (0.670.94)
00.61.4
Synonymous OE0.70
01.21.6
LoF obs/exp: 3 / 4.0Missense obs/exp: 95 / 119.2Syn Z: 1.86

ClinVar Variant Classifications

72 submitted variants in ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic1
VUS61
Likely Benign2
4
Pathogenic
1
Likely Pathogenic
61
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
1
0
1
VUS
0
55
6
0
61
Likely Benign
0
1
0
1
2
Benign
0
0
0
0
0
Total05611168

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

View in ClinVar →

Protein Context — Lollipop Plot

DYNLT4 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found