DYNLRB2: Dynein Light Chain Roadblock-Type 2
A component of the dynein motor complex involved in intracellular transport and ciliary function.
Gene Information Card
| Symbol | DYNLRB2 |
|---|---|
| Full Name | Dynein light chain roadblock-type 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.3 |
| NCBI Gene ID | 83658 ncbi.nlm.nih.gov/gene/83658 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q8TF09 |
| OMIM ID | 612852 |
| HGNC ID | 28558 |
| Aliases | DNCL2B, ROBLD2, bA364O22.1 |
Description
DYNLRB2 encodes a member of the roadblock-type light chain family of dynein motor proteins. This protein is a component of the cytoplasmic dynein 1 and dynein 2 complexes, which are essential for retrograde transport along microtubules, including ciliary and flagellar motility. Mutations in DYNLRB2 are associated with primary ciliary dyskinesia and other ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Defective dynein light chain impairs ciliary motility, leading to impaired mucociliary clearance | ClinVar, OMIM |
| Spermatogenic failure | Disrupted flagellar transport affects sperm motility | OMIM |
| Ciliopathy-related disorders | Dynein dysfunction disrupts ciliary signaling and transport | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 10.8 | Lung carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| K562 | 7.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80Trp) | Missense | <0.01% | Likely pathogenic; associated with primary ciliary dyskinesia |
| c.301G>A (p.Gly101Ser) | Missense | <0.01% | Uncertain significance |
| c.112_114del (p.Lys38del) | Deletion | <0.01% | Likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that disrupt dynein complex assembly or microtubule binding, leading to impaired ciliary motility.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported; likely recessive inheritance pattern.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule-based movement (GO:0007018) |
| • dynein complex (GO:0030286) | • axonemal dynein complex (GO:0005858) |
| • cilium (GO:0005929) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620924)
• Cargo trafficking in the cilium (Reactome: R-HSA-5620916)
• Dynein-mediated transport (Reactome: R-HSA-983168)
Protein Summary
DYNLRB2 is a 96-amino acid protein (11 kDa) that belongs to the roadblock-type light chain family. It forms a heterodimer with DYNLRB1 and interacts with the dynein intermediate chain to stabilize the dynein complex. The protein is highly conserved and expressed in ciliated tissues, particularly testis and lung. It is essential for flagellar and ciliary beat frequency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNLRB2 Knockout HEK293 Cell Line | EDJ-KQ9879 | Human | 83657 | Details Get a Quote |
| DYNLRB2 Knockout HeLa Cell Line | EDJ-KQ57461 | Human | 83657 | Details Get a Quote |
| DYNLRB2 Knockout A-549 Cell Line | EDJ-KQ65965 | Human | 83657 | Details Get a Quote |
| DYNLRB2 Knockout HCT 116 Cell Line | EDJ-KQ74387 | Human | 83657 | Details Get a Quote |
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