DRC11L: Dynein Regulatory Complex Subunit 11 Like
A ciliary dynein regulatory complex gene with limited clinical annotation
Gene Information Card
| Symbol | DRC11L |
|---|---|
| Full Name | Dynein Regulatory Complex Subunit 11 Like |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000267260 |
| UniProt ID | A0A0A0MTJ0 |
| OMIM ID | Not available |
| HGNC ID | HGNC:51310 |
| Aliases | C19orf57 |
Description
DRC11L (Dynein Regulatory Complex Subunit 11 Like) is a protein-coding gene located on chromosome 19q13.33. It is predicted to be part of the dynein regulatory complex (DRC), which is essential for the proper function of cilia and flagella. The gene is expressed in various tissues, with notable levels in the testis and respiratory epithelium. While its exact function is not fully characterized, it is likely involved in the regulation of ciliary beat frequency and waveform. No disease associations have been firmly established, but its homology to DRC11 suggests a potential role in ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Potential involvement due to DRC component homology; no direct pathogenic variants reported. | Inferred from DRC11 function; no ClinVar entries. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lung | 8.7 | Low |
| Kidney | 6.2 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Calu-3 (lung) | 15.2 | Ciliated epithelial cell line |
| Hela | 5.4 | Cervical cancer cell line |
| HepG2 | 4.8 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No clinically significant variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No evidence; likely would impair ciliary function if present.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • dynein complex | • cilium assembly |
| • microtubule motor activity |
Pathways
• Ciliary motility
• Axonemal dynein complex assembly
Protein Summary
The DRC11L protein is predicted to be a component of the dynein regulatory complex, which is located in the axoneme of cilia and flagella. It likely contributes to the regulation of dynein arm activity, thereby controlling ciliary beat. The protein contains a coiled-coil domain, which may mediate protein-protein interactions within the complex. Its precise molecular function remains to be experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DRC11L Knockout HEK293 Cell Line | EDJ-KQ13853 | Human | 392843 | Details Get a Quote |
| DRC11L Knockout HeLa Cell Line | EDJ-KQ60238 | Human | 392843 | Details Get a Quote |
| DRC11L Knockout A-549 Cell Line | EDJ-KQ68699 | Human | 392843 | Details Get a Quote |
| DRC11L Knockout HCT 116 Cell Line | EDJ-KQ77066 | Human | 392843 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
