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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DYNLT4
dynein light chain Tctex-type 4
Chromosome 1 Β· 1p34.1
NCBI Gene: 343521Ensembl: ENSG00000188396.5HGNC: HGNC:32315UniProt: Q5JR98
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein phosphatase 1 bindingmicrotubule organizing centeraxonemeprotein bindingNeurodevelopmental disorderBlackfan-Diamond anemiaHereditary persistence of fetal hemoglobin - beta-thalassemiahereditary persistence of fetal hemoglobin-sickle cell disease syndrome
✦AI Summary

Based on limited published evidence, DYNLT4 encodes a dynein light chain protein functioning as a component of the cytoplasmic dynein complex involved in microtubule-based movement. Database annotations indicate roles in protein binding, dynein intermediate chain binding, and localization to the axoneme, sperm flagellum, and nucleus. Recent studies identified DYNLT4 associations with Alzheimer's disease protection through gene-based testing 1, and demonstrated that DYNLT4 degradation via the Mid1-mediated ubiquitin-proteasome pathway impairs retrograde axonal transport in hippocampal neurons, affecting learning and memory 2.

Sources cited
1
Gene-based testing identified DYNLT4 as significantly associated with Alzheimer's disease in multi-ancestry exome-wide study
PMID: 41428483
2
DYNLT4 degradation through Mid1-mediated ubiquitin-proteasome pathway disrupts retrograde axonal transport and affects learning and memory function
PMID: 41651028
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Neurodevelopmental disorderOpen Targets
0.11Weak
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.07Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.06Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.06Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
Pyruvate kinase hyperactivityOpen Targets
0.06Suggestive
autosomal dominant sideroblastic anemiaOpen Targets
0.06Suggestive
Constitutional sideroblastic anemiaOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.05Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
KIF3CShared pathway100%DYNLT2Shared pathway100%KIF21BShared pathway100%KLC4Shared pathway100%KIF19Shared pathway100%DYNLT5Shared pathway100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
31%
Liver
30%
Ovary
28%
Heart
12%
Brain
0%
Gene Interaction Network
Click a node to explore
DYNLT4KIF3CDYNLT2KIF21BKLC4KIF19DYNLT5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5JR98
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.62 [0.84–1.94]
RankingsWhere DYNLT4 stands among ~20K protein-coding genes
  • #17,577of 20,598
    Most Researched8
  • #17,614of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedDYNLT4
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Multi-ancestry exome-wide study identifies variants associated with Alzheimer's disease protection.
PMID: 41428483
J Alzheimers Dis Β· 2026
1.00
2
VPA targets Mid1 to improve disrupted retrograde axonal transport in hippocampal neurons and alleviate lithium manganate-induced learning and memory dysfunction.
PMID: 41651028
J Adv Res Β· 2026
0.50