DYNC2LI1: Dynein Cytoplasmic 2 Light Intermediate Chain 1
Essential component of the intraflagellar transport (IFT) machinery; mutations cause skeletal ciliopathies
Gene Information Card
| Symbol | DYNC2LI1 |
|---|---|
| Full Name | dynein cytoplasmic 2 light intermediate chain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p24.3 |
| NCBI Gene ID | 51626 ncbi.nlm.nih.gov/gene/51626 |
| Ensembl ID | ENSG00000138073 |
| UniProt ID | Q8N3C7 |
| OMIM ID | 617083 |
| HGNC ID | 24595 |
| Aliases | CGI-60, D2LIC, FLJ20313, bA379J4.1 |
Description
DYNC2LI1 encodes a light intermediate chain of the cytoplasmic dynein 2 complex, which powers retrograde intraflagellar transport (IFT) within cilia. This protein is essential for ciliary assembly and function. Mutations in DYNC2LI1 cause autosomal recessive short-rib thoracic dysplasia (SRTD) with or without polydactyly, a severe skeletal ciliopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Short-rib thoracic dysplasia 15 with polydactyly (SRTD15) | Loss-of-function mutations impair retrograde IFT, disrupting ciliary signaling and bone development | OMIM #617083; multiple homozygous/compound heterozygous variants reported in patients |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Lung | 6.5 | Medium |
| Kidney | 5.9 | Medium |
| Brain | 4.1 | Low |
| Liver | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.8 | Moderate expression |
| HeLa | 6.2 | Moderate expression |
| HepG2 | 5.1 | Low expression |
| K562 | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35*) | nonsense | Rare | Loss of function; premature stop |
| c.1105C>T (p.Arg369Trp) | missense | Rare | Likely loss of function; disrupts protein stability |
| c.1285C>T (p.Arg429*) | nonsense | Rare | Loss of function; truncation |
| c.1687C>T (p.Arg563Trp) | missense | Rare | Likely loss of function; impaired dynein complex assembly |
Mutation functional classification
Loss of Function (LOF)
Most reported DYNC2LI1 mutations are loss-of-function (nonsense, frameshift, splice-site) leading to truncated or unstable protein, causing SRTD15.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Intraflagellar transport (IFT) - retrograde
• Cilium assembly
Protein Summary
DYNC2LI1 is a 45 kDa light intermediate chain of the cytoplasmic dynein 2 complex. It contains an N-terminal dynein light intermediate chain domain and a C-terminal coiled-coil region. The protein interacts with other dynein subunits and IFT particles to mediate retrograde transport from the ciliary tip to the base. Loss of function leads to defective ciliary resorption and skeletal abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNC2LI1 Knockout HEK293 Cell Line | EDJ-KQ11162 | Human | 51626 | Details Get a Quote |
| DYNC2LI1 Knockout A-549 Cell Line | EDJ-KQ39174 | Human | 51626 | Details Get a Quote |
| DYNC2LI1 Knockout HCT 116 Cell Line | EDJ-KQ39175 | Human | 51626 | Details Get a Quote |
| DYNC2LI1 Knockout HeLa Cell Line | EDJ-KQ37861 | Human | 51626 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
