DRC4
Dynein Regulatory Complex Subunit 4
Gene Information Card
| Symbol | DRC4 |
|---|---|
| Full Name | Dynein Regulatory Complex Subunit 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 347736 ncbi.nlm.nih.gov/gene/347736 |
| Ensembl ID | ENSG00000161921 |
| UniProt ID | Q6P9B9 |
| OMIM ID | 615356 |
| HGNC ID | HGNC:28237 |
| Aliases | CFAP77, CCDC135, DRC4 |
Description
DRC4 encodes a subunit of the dynein regulatory complex (DRC), a key component of the axonemal structure in cilia and flagella. The DRC is essential for the regulation of dynein arm activity, controlling ciliary beat frequency and waveform. Mutations in DRC4 are associated with primary ciliary dyskinesia (PCD), a disorder characterized by impaired mucociliary clearance, chronic respiratory infections, and laterality defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in DRC4 disrupt dynein regulatory complex assembly, leading to defective ciliary motility and impaired mucociliary clearance. | ClinVar, OMIM |
| Ciliary Dyskinesia with Laterality Defects | DRC4 mutations can cause situs inversus or heterotaxy due to defective nodal cilia function during embryonic development. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Trachea | 8.7 | Medium |
| Lung | 6.2 | Low |
| Fallopian Tube | 5.9 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 15.4 | Ciliated epithelial cell line |
| BEAS-2B | 9.1 | Bronchial epithelial cell line |
| HeLa | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.742C>T (p.Arg248*) | Nonsense | Rare | Premature stop, loss of function |
| c.1000_1001delAG (p.Arg334Glufs*2) | Frameshift | Rare | Truncated protein, loss of function |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Likely damaging, disrupts DRC assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent DRC4 protein, impairing dynein regulatory complex function and ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations reported for DRC4.
Dominant Negative (DN)
No dominant-negative mutations reported; DRC4 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:1247672 - Cilium assembly and regulation
• KEGG:05200 - Pathways in cancer (ciliary dysfunction related)
Protein Summary
DRC4 (CFAP77) is a 612-amino acid protein localized to the axoneme, specifically as part of the dynein regulatory complex. It contains coiled-coil domains and is involved in the structural integrity and regulation of the nexin-dynein regulatory complex (N-DRC). The protein is highly expressed in tissues with motile cilia, such as the respiratory tract and reproductive organs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DRC4 Knockout HEK293 Cell Line | EDJ-KQ4680 | Human | 2622 | Details Get a Quote |
| DRC4 Knockout A-549 Cell Line | EDJ-KQ26139 | Human | 2622 | Details Get a Quote |
| DRC4 Knockout HCT 116 Cell Line | EDJ-KQ27382 | Human | 2622 | Details Get a Quote |
| DRC4 Knockout HeLa Cell Line | EDJ-KQ27383 | Human | 2622 | Details Get a Quote |
