DRC2: Dynein Regulatory Complex Subunit 2
Essential Component of the Axonemal Dynein Regulatory Complex in Cilia and Flagella
Gene Information Card
| Symbol | DRC2 |
|---|---|
| Full Name | Dynein Regulatory Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 286059 ncbi.nlm.nih.gov/gene/286059 |
| Ensembl ID | ENSG00000196576 |
| UniProt ID | Q5T1M5 |
| OMIM ID | 615500 |
| HGNC ID | 28373 |
| Aliases | CFAP24, CCDC65, DRC2 |
Description
DRC2 (dynein regulatory complex subunit 2) encodes a protein that is a component of the dynein regulatory complex (DRC), which is essential for the proper regulation of ciliary and flagellar motility. The DRC is located on the outer doublet microtubules of the axoneme and controls the activity of the inner dynein arms. Mutations in DRC2 are associated with primary ciliary dyskinesia (PCD), specifically type 40 (CILD40), characterized by chronic respiratory infections, situs inversus, and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 40 (CILD40) | Loss-of-function mutations in DRC2 disrupt the dynein regulatory complex, impairing ciliary beat frequency and waveform. | OMIM #615500; ClinVar |
| Primary Ciliary Dyskinesia with Situs Inversus (Kartagener Syndrome) | Biallelic DRC2 mutations cause defective mucociliary clearance and randomization of left-right body asymmetry. | OMIM #615500; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Trachea | 7.9 | Medium |
| Fallopian Tube | 6.5 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 10.5 | Ciliated epithelial cell line |
| BEAS-2B | 8.1 | Bronchial epithelial cells |
| HepG2 | 0.8 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Ter) | Nonsense | Rare | Loss of function; associated with PCD |
| c.325_326del (p.Leu109ValfsTer2) | Frameshift | Rare | Loss of function; truncation of DRC2 |
| c.482G>A (p.Arg161Gln) | Missense | Rare | Likely damaging; disrupts DRC assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent DRC2 protein, impairing dynein regulatory complex assembly and ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations reported for DRC2.
Dominant Negative (DN)
No dominant-negative mutations reported; DRC2-associated PCD is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary motility (Reactome: R-HSA-5620924)
• Assembly of the dynein regulatory complex (Reactome: R-HSA-5620912)
Protein Summary
DRC2 (also known as CFAP24 or CCDC65) is a 584-amino acid protein that localizes to the axonemal dynein regulatory complex (DRC) in cilia and flagella. It interacts with other DRC subunits (e.g., DRC1, DRC3, DRC4) to modulate inner dynein arm activity. Loss of DRC2 leads to reduced ciliary beat frequency and abnormal waveform, causing primary ciliary dyskinesia. The protein contains coiled-coil domains that mediate protein-protein interactions within the DRC.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DRC2 Knockout HEK293 Cell Line | EDJ-KQ10381 | Human | 85478 | Details Get a Quote |
| DRC2 Knockout A-549 Cell Line | EDJ-KQ37724 | Human | 85478 | Details Get a Quote |
| DRC2 Knockout HCT 116 Cell Line | EDJ-KQ37725 | Human | 85478 | Details Get a Quote |
| DRC2 Knockout HeLa Cell Line | EDJ-KQ57725 | Human | 85478 | Details Get a Quote |
| DRC2 Overexpression hESC（H9） Stable Cell Line | EDC01691 | Human | 85478 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
