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.

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 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
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