DYNLT4
Dynein Light Chain Tctex-Type 4
Gene Information Card
| Symbol | DYNLT4 |
|---|---|
| Full Name | dynein light chain Tctex-type 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 100129361 ncbi.nlm.nih.gov/gene/100129361 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | Q8N4H5 |
| OMIM ID | 617283 |
| HGNC ID | 37216 |
| Aliases | TCTEX1D4, TCTEX4 |
Description
DYNLT4 (dynein light chain Tctex-type 4) is a protein-coding gene that encodes a light chain component of the dynein motor complex. Dyneins are microtubule-associated motor proteins responsible for retrograde intracellular transport, ciliary and flagellar motility, and mitotic spindle organization. The Tctex-type light chains are involved in cargo binding and regulation of dynein activity. DYNLT4 is expressed in multiple tissues and may play roles in spermatogenesis and neuronal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Potential role in sperm motility and flagellar assembly; mutations may impair dynein function | Limited; inferred from homology and expression studies |
| Primary ciliary dyskinesia | Defective dynein light chain may disrupt ciliary beating | Not directly established; candidate gene based on pathway |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Heart | 2.1 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.4 | Moderate expression |
| HeLa | 6.1 | Low expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • dynein complex |
| • cytoplasmic dynein complex | • intracellular transport |
| • cilium assembly | • cell division |
Pathways
• Intraflagellar transport
• Microtubule-based movement
• Retrograde transport in cilia
Protein Summary
The DYNLT4 protein is a small light chain (approximately 12 kDa) belonging to the Tctex-type dynein light chain family. It contains a conserved Tctex-1 domain that mediates interaction with the dynein intermediate chain and cargo adaptors. The protein is predicted to localize to the cytoplasm and ciliary structures, contributing to dynein motor complex stability and cargo specificity. Its expression in testis suggests a role in sperm flagellar function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNLT4 Knockout HEK293 Cell Line | EDJ-KQ13238 | Human | 343521 | Details Get a Quote |
| DYNLT4 Knockout HeLa Cell Line | EDJ-KQ59758 | Human | 343521 | Details Get a Quote |
| DYNLT4 Knockout A-549 Cell Line | EDJ-KQ68227 | Human | 343521 | Details Get a Quote |
| DYNLT4 Knockout HCT 116 Cell Line | EDJ-KQ76603 | Human | 343521 | Details Get a Quote |
