DRC10: Dynein Regulatory Complex Subunit 10
A key component of the axonemal dynein regulatory complex involved in ciliary motility
Gene Information Card
| Symbol | DRC10 |
|---|---|
| Full Name | Dynein Regulatory Complex Subunit 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 100129361 ncbi.nlm.nih.gov/gene/100129361 |
| Ensembl ID | ENSG00000215271 |
| UniProt ID | Q5T8T8 |
| OMIM ID | 618782 |
| HGNC ID | HGNC:37223 |
| Aliases | C2orf86, MGC16384 |
Description
DRC10 encodes a subunit of the dynein regulatory complex (DRC), a key structure in the axoneme of motile cilia and flagella. The DRC is essential for the regulation of ciliary beat frequency and waveform. DRC10 is localized to the nexin-dynein regulatory complex (N-DRC) and is required for proper ciliary motility. Mutations in DRC10 are associated with primary ciliary dyskinesia (PCD), a disorder characterized by chronic respiratory tract infections, infertility, and situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss-of-function mutations in DRC10 disrupt the dynein regulatory complex, impairing ciliary motility and mucociliary clearance. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Trachea | 7.1 | Low |
| Fallopian tube | 6.8 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 9.3 | Retinal pigment epithelial cells, ciliated |
| BEAS-2B | 7.8 | Bronchial epithelial cells |
| A549 | 6.5 | Lung carcinoma |
| HeLa | 2.1 | Cervical carcinoma, non-ciliated |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.235C>T (p.Arg79*) | Nonsense | Rare | Loss of function, associated with PCD |
| c.421_422del (p.Glu141fs) | Frameshift | Rare | Loss of function, associated with PCD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in DRC10 lead to truncated or absent protein, disrupting the dynein regulatory complex and causing ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • axonemal dynein complex (GO:0005858) | • cilium (GO:0005929) |
| • axoneme (GO:0035082) | • cilium-dependent cell motility (GO:0060285) |
| • cilium movement (GO:0003341) |
Pathways
• REACT: R-HSA-5620920 - Cargo trafficking to the cilium
• REACT: R-HSA-5617833 - Cilium assembly
Protein Summary
DRC10 is a 45 kDa protein that localizes to the nexin-dynein regulatory complex (N-DRC) of the axoneme. It interacts with other DRC subunits to regulate dynein arm activity and ciliary beat pattern. The protein contains a coiled-coil domain and is conserved among ciliated organisms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DRC10 Knockout HEK293 Cell Line | EDJ-KQ7534 | Human | 115811 | Details Get a Quote |
| DRC10 Knockout A-549 Cell Line | EDJ-KQ32819 | Human | 115811 | Details Get a Quote |
| DRC10 Knockout HCT 116 Cell Line | EDJ-KQ32820 | Human | 115811 | Details Get a Quote |
| DRC10 Knockout HeLa Cell Line | EDJ-KQ32821 | Human | 115811 | Details Get a Quote |
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