DYNLT2 Dynein Light Chain Tctex-Type 2
A component of the dynein motor complex involved in intracellular transport and ciliary function.
Gene Information Card
| Symbol | DYNLT2 |
|---|---|
| Full Name | Dynein Light Chain Tctex-Type 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 140735 ncbi.nlm.nih.gov/gene/140735 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8N4C6 |
| OMIM ID | 609899 |
| HGNC ID | 28479 |
| Aliases | TCTEX2, DYNLT2A, Tctex-2 |
Description
DYNLT2 encodes a light chain component of the cytoplasmic dynein complex, which is essential for minus-end-directed microtubule-based transport. This protein is involved in various cellular processes including vesicle trafficking, organelle positioning, and ciliary motility. Mutations in DYNLT2 have been associated with primary ciliary dyskinesia and other ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Defective ciliary motility due to impaired dynein arm assembly | ClinVar, OMIM |
| Spermatogenic Failure | Disrupted flagellar transport leading to asthenozoospermia | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 8.5 | Low |
| Brain | 6.1 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | High expression |
| HeLa | 9.8 | Moderate expression |
| A549 | 7.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | <0.01% | Loss of function, truncated protein |
| c.346G>A (p.Gly116Arg) | Missense | <0.01% | Impaired dynein complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or unstable protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • microtubule-based movement | • dynein complex |
| • cytoplasmic dynein light chain binding | • cilium assembly |
| • intracellular transport |
Pathways
• Ciliary transport
• Microtubule-based movement
• Dynein motor complex
Protein Summary
DYNLT2 is a small (12 kDa) light chain protein that binds to the dynein intermediate chain, stabilizing the dynein complex. It is highly expressed in tissues with motile cilia, such as testis and lung, and is critical for ciliary beat frequency and sperm flagellar movement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNLT2 Knockout HEK293 Cell Line | EDJ-KQ13236 | Human | 6991 | Details Get a Quote |
| DYNLT2B Knockout HEK293 Cell Line | EDJ-KQ13237 | Human | 255758 | Details Get a Quote |
| DYNLT2B Knockout A-549 Cell Line | EDJ-KQ41395 | Human | 255758 | Details Get a Quote |
| DYNLT2 Knockout A-549 Cell Line | EDJ-KQ42621 | Human | 6991 | Details Get a Quote |
| DYNLT2 Knockout HCT 116 Cell Line | EDJ-KQ42622 | Human | 6991 | Details Get a Quote |
| DYNLT2 Knockout HeLa Cell Line | EDJ-KQ42623 | Human | 6991 | Details Get a Quote |
| DYNLT2B Knockout HCT 116 Cell Line | EDJ-KQ42625 | Human | 255758 | Details Get a Quote |
| DYNLT2B Knockout HeLa Cell Line | EDJ-KQ42626 | Human | 255758 | Details Get a Quote |