DYNC1LI2
Dynein cytoplasmic 1 light intermediate chain 2
Gene Information Card
| Symbol | DYNC1LI2 |
|---|---|
| Full Name | dynein cytoplasmic 1 light intermediate chain 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 1783 ncbi.nlm.nih.gov/gene/1783 |
| Ensembl ID | ENSG00000135720 |
| UniProt ID | Q6P3X3 |
| OMIM ID | 608143 |
| HGNC ID | 2975 |
| Aliases | LIC2, DLC-B, DLCB, DNCLI2 |
Description
DYNC1LI2 (dynein cytoplasmic 1 light intermediate chain 2) is a protein-coding gene that encodes a light intermediate chain subunit of the cytoplasmic dynein 1 complex. This complex is a microtubule-associated motor protein responsible for retrograde transport of vesicles, organelles, and macromolecules toward the minus end of microtubules. DYNC1LI2 is essential for proper cellular trafficking, cell division, and neuronal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal muscular atrophy with lower extremity predominance 2 (SMALED2) | Loss-of-function mutations in DYNC1LI2 impair dynein-mediated axonal transport, leading to motor neuron degeneration. | PMID: 28886341, ClinVar |
| Charcot-Marie-Tooth disease type 2O (CMT2O) | Dominant mutations disrupt dynein function in peripheral neurons, causing axonal neuropathy. | PMID: 28886341, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 9.8 | Medium |
| Heart | 7.2 | Low |
| Liver | 5.1 | Low |
| Kidney | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.4 | Moderate expression |
| SH-SY5Y | 9.8 | Moderate expression |
| HepG2 | 7.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.179G>A (p.Arg60His) | Missense | Rare | Dominant negative; associated with CMT2O |
| c.1066C>T (p.Arg356*) | Nonsense | Rare | Loss of function; associated with SMALED2 |
| c.2005C>T (p.Arg669Cys) | Missense | Rare | Likely pathogenic; disrupts dynein assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg356*) lead to truncated protein and loss of dynein function, causing SMALED2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg60His) interfere with dynein complex assembly and function, causing CMT2O.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG hsa04144: Endocytosis
• KEGG hsa04810: Regulation of actin cytoskeleton
• Reactome R-HSA-983231: Dynein-mediated cargo transport
Protein Summary
DYNC1LI2 encodes a 493-amino acid protein (UniProt Q6P3X3) that functions as a light intermediate chain of cytoplasmic dynein 1. It links the dynein motor to cargo adaptors and is critical for retrograde transport along microtubules. The protein contains an N-terminal dynein light intermediate chain domain and a C-terminal region involved in cargo binding. Mutations cause motor neuron diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNC1LI2 Knockout HEK293 Cell Line | EDJ-KQ4464 | Human | 1783 | Details Get a Quote |
| DYNC1LI2 Knockout A-549 Cell Line | EDJ-KQ27021 | Human | 1783 | Details Get a Quote |
| DYNC1LI2 Knockout HCT 116 Cell Line | EDJ-KQ27022 | Human | 1783 | Details Get a Quote |
| DYNC1LI2 Knockout HeLa Cell Line | EDJ-KQ27023 | Human | 1783 | Details Get a Quote |
