DYNC2I2 Gene - Dynein Cytoplasmic 2 Intermediate Chain 2
Essential component of the intraflagellar transport (IFT) machinery; mutations linked to skeletal ciliopathies
Gene Information Card
| Symbol | DYNC2I2 |
|---|---|
| Full Name | Dynein cytoplasmic 2 intermediate chain 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.31 |
| NCBI Gene ID | 89891 ncbi.nlm.nih.gov/gene/89891 |
| Ensembl ID | ENSG00000165240 |
| UniProt ID | Q8N3C0 |
| OMIM ID | 613330 |
| HGNC ID | 28498 |
| Aliases | DYNC2I2, D2IC, CGI-60, FLJ20071, WDR34 |
Description
DYNC2I2 (dynein cytoplasmic 2 intermediate chain 2) encodes a component of the dynein-2 complex, which is essential for retrograde intraflagellar transport (IFT) in cilia. This protein interacts with other dynein subunits to facilitate the movement of cargo from the ciliary tip back to the cell body. Loss-of-function mutations in DYNC2I2 disrupt ciliary function and lead to skeletal ciliopathies, particularly short-rib thoracic dysplasia (SRTD) with or without polydactyly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Short-rib thoracic dysplasia 11 with or without polydactyly | Loss-of-function mutations impair retrograde IFT, causing defective ciliary signaling and skeletal development | OMIM #615633; multiple case reports in ClinVar and literature |
| Asphyxiating thoracic dystrophy (Jeune syndrome) | Biallelic DYNC2I2 variants disrupt ciliary transport, leading to narrow thorax and skeletal abnormalities | ClinVar; PMID: 23555315 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Kidney | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.1 | Moderate expression |
| HeLa | 6.7 | Low expression |
| A549 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1102C>T (p.Arg368*) | Nonsense | <0.01% | Loss of function; premature termination |
| c.1405G>A (p.Gly469Arg) | Missense | <0.01% | Likely damaging; disrupts protein folding |
| c.1726_1727del (p.Leu576Valfs*2) | Frameshift | <0.01% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most reported DYNC2I2 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to reduced or absent dynein-2 complex activity and impaired retrograde IFT.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DYNC2I2.
Dominant Negative (DN)
No dominant-negative mutations have been described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Cytoplasmic dynein complex | • Intraflagellar transport |
| • Microtubule motor activity | • Cilium assembly |
| • Retrograde vesicle-mediated transport |
Pathways
• Intraflagellar transport (IFT)
• Cilium assembly and disassembly
• Hedgehog signaling pathway
Protein Summary
DYNC2I2 encodes a 656-amino-acid intermediate chain of the cytoplasmic dynein-2 complex. The protein contains WD40 repeats that mediate protein-protein interactions within the dynein motor complex. It localizes to cilia and is essential for retrograde IFT. Defects in this protein cause skeletal ciliopathies due to impaired ciliary signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNC2I2 Knockout HEK293 Cell Line | EDJ-KQ2916 | Human | 89891 | Details Get a Quote |
| DYNC2I2 Knockout A-549 Cell Line | EDJ-KQ24009 | Human | 89891 | Details Get a Quote |
| DYNC2I2 Knockout HeLa Cell Line | EDJ-KQ24011 | Human | 89891 | Details Get a Quote |
| DYNC2I2 Knockout HCT 116 Cell Line | EDJ-KQ22639 | Human | 89891 | Details Get a Quote |
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