DYNC2I1: Dynein Cytoplasmic 2 Intermediate Chain 1
Essential component of the intraflagellar transport machinery; mutations linked to skeletal ciliopathies
Gene Information Card
| Symbol | DYNC2I1 |
|---|---|
| Full Name | dynein cytoplasmic 2 intermediate chain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q9Y6G9 |
| OMIM ID | 607331 |
| HGNC ID | 2963 |
| Aliases | D2IC, DYNC2I1, FLJ20036, bA324H6.1 |
Description
DYNC2I1 encodes the intermediate chain 1 of the cytoplasmic dynein 2 complex, a motor protein essential for retrograde intraflagellar transport (IFT) within cilia. This complex transports cargo from the ciliary tip back to the cell body. Mutations in DYNC2I1 disrupt ciliary function and are a known cause of 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, leading to defective ciliary signaling and skeletal patterning defects | OMIM #617088; multiple homozygous/compound heterozygous variants reported in ClinVar |
| Asphyxiating thoracic dystrophy (Jeune syndrome) | Disrupted dynein-2 complex reduces ciliary length and function, causing thoracic narrowing and skeletal abnormalities | ClinVar; case reports in PubMed (PMID: 26092869) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Kidney | 7.9 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 8.5 | Low expression |
| A549 | 7.2 | Low expression |
| HepG2 | 5.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1795C>T (p.Arg599*) | Nonsense | <0.01% | Loss of function; premature truncation of intermediate chain |
| c.1012G>A (p.Gly338Arg) | Missense | <0.01% | Likely loss of function; disrupts protein folding |
| c.1462_1463del (p.Leu488Valfs*2) | Frameshift | <0.01% | Loss of function; frameshift leads to early termination |
Mutation functional classification
Loss of Function (LOF)
Majority of reported DYNC2I1 variants are loss-of-function (nonsense, frameshift, splice-site) leading to truncated or absent protein, impairing retrograde IFT.
Gain of Function (GOF)
No gain-of-function mutations reported for DYNC2I1.
Dominant Negative (DN)
No dominant-negative mutations reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule-based movement (GO:0007018) |
| • intraciliary retrograde transport (GO:0035721) | • axonemal dynein complex (GO:0005858) |
| • cilium (GO:0005929) |
Pathways
• Intraflagellar transport (IFT) - retrograde
• Cilium assembly and maintenance
• Hedgehog signaling pathway (ciliary-dependent)
Protein Summary
DYNC2I1 is a 656-amino-acid intermediate chain of the cytoplasmic dynein 2 complex. It contains WD40 repeats that mediate cargo binding and complex assembly. The protein localizes to cilia and is required for retrograde IFT. Loss of DYNC2I1 function leads to accumulation of IFT particles at the ciliary tip and shortened, malformed cilia, resulting in skeletal ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNC2I1 Knockout HEK293 Cell Line | EDJ-KQ13235 | Human | 55112 | Details Get a Quote |
| DYNC2I1 Knockout A-549 Cell Line | EDJ-KQ42618 | Human | 55112 | Details Get a Quote |
| DYNC2I1 Knockout HCT 116 Cell Line | EDJ-KQ42619 | Human | 55112 | Details Get a Quote |
| DYNC2I1 Knockout HeLa Cell Line | EDJ-KQ42620 | Human | 55112 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
