DYNLT2B Dynein Light Chain Tctex-Type 2B
A component of the dynein motor complex involved in intracellular transport and ciliary function.
Gene Information Card
| Symbol | DYNLT2B |
|---|---|
| Full Name | Dynein Light Chain Tctex-Type 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 140735 ncbi.nlm.nih.gov/gene/140735 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q8N4C6 |
| OMIM ID | 617638 |
| HGNC ID | 28472 |
| Aliases | TCTEX2B, DYNLT2, TCTE2B |
Description
DYNLT2B encodes a light chain component of the cytoplasmic dynein complex, which is essential for minus-end-directed microtubule-based transport. This protein belongs to the Tctex-type dynein light chain family and is involved in cargo binding, ciliary motility, and intracellular trafficking. Expression is enriched in tissues with motile cilia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Defective dynein arm assembly leading to impaired ciliary motility | ClinVar: pathogenic variants in DYNLT2B associated with PCD |
| Spermatogenic Failure | Disrupted flagellar transport causing asthenozoospermia | OMIM: 617638; literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 8.7 | Low |
| Brain | 5.3 | Low |
| Heart | 4.1 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | Moderate expression |
| HeLa | 9.8 | Low expression |
| A549 | 7.2 | Low expression |
| K562 | 3.1 | Not detected |
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; predicted nonsense-mediated decay |
| c.346G>A (p.Gly116Ser) | Missense | <0.01% | Likely damaging; affects protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not described for DYNLT2B.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • cytoplasmic dynein complex (GO:0008569) |
| • microtubule-based movement (GO:0007018) | • dynein complex (GO:0030286) |
| • axonemal dynein complex (GO:0005858) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620920)
• Intraflagellar transport (KEGG: hsa04540)
Protein Summary
DYNLT2B is a 116-amino-acid light chain protein (UniProt Q8N4C6) that associates with the dynein intermediate chain. It is essential for the assembly and function of axonemal dynein arms in cilia and flagella. Loss-of-function mutations cause primary ciliary dyskinesia and male infertility due to defective sperm motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
| 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 |
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