DRC12
Dynein Regulatory Complex Subunit 12
Gene Information Card
| Symbol | DRC12 |
|---|---|
| Full Name | Dynein Regulatory Complex Subunit 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 115106 ncbi.nlm.nih.gov/gene/115106 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q5T4S8 |
| OMIM ID | 615500 |
| HGNC ID | 26464 |
| Aliases | CCDC63, FLJ32743 |
Description
DRC12 (Dynein Regulatory Complex Subunit 12) encodes a component of the dynein regulatory complex (DRC), which is essential for the proper assembly and function of ciliary and flagellar axonemes. The DRC regulates the activity of dynein arms, controlling ciliary beat frequency and waveform. Mutations in DRC12 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 40 | Loss-of-function mutations disrupt DRC assembly, impairing ciliary motility | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Trachea | 7.9 | Low |
| Fallopian tube | 6.5 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HAP1 | 10.3 | CRISPR knockout line |
| HEK 293 | 4.1 | Low expression |
| A549 | 6.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function |
| c.325_326del (p.Leu109Valfs*2) | Frameshift | Rare | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent DRC12 protein, disrupting dynein regulatory complex assembly and ciliary motility.
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)
Pathways
• Ciliary motility (REACT: R-HSA-5620912)
• Axonemal dynein complex assembly
Protein Summary
DRC12 is a 287-amino acid protein containing coiled-coil domains, localized to the axonemal dynein regulatory complex. It interacts with other DRC subunits to modulate dynein arm activity. The protein is highly expressed in tissues with motile cilia, such as the respiratory tract and reproductive organs. Loss of DRC12 function leads to defective ciliary beating and primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DRC12 Knockout HEK293 Cell Line | EDJ-KQ12783 | Human | 283152 | Details Get a Quote |
| DRC12 Knockout HeLa Cell Line | EDJ-KQ59379 | Human | 283152 | Details Get a Quote |
| DRC12 Knockout A-549 Cell Line | EDJ-KQ67842 | Human | 283152 | Details Get a Quote |
| DRC12 Knockout HCT 116 Cell Line | EDJ-KQ76225 | Human | 283152 | Details Get a Quote |
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