DMAC2: Dynein Regulatory Complex Subunit 2
A component of the dynein regulatory complex involved in ciliary motility and microtubule-based transport.
Gene Information Card
| Symbol | DMAC2 |
|---|---|
| Full Name | Dynein Regulatory Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 55146 ncbi.nlm.nih.gov/gene/55146 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9H0C8 |
| OMIM ID | 615956 |
| HGNC ID | 26423 |
| Aliases | C19orf51, DRC2, FLJ10853 |
Description
DMAC2 (Dynein Regulatory Complex Subunit 2) encodes a protein that is a component of the dynein regulatory complex (DRC), which is essential for the regulation of ciliary and flagellar motility. The DRC links the radial spokes to the outer dynein arms and modulates dynein activity in response to signals from the central pair apparatus. Mutations in DMAC2 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 DMAC2 disrupt the dynein regulatory complex, leading to defective ciliary motility and impaired mucociliary clearance. | ClinVar, OMIM |
| Situs Inversus | Defective ciliary motility during embryonic development can result in random left-right body axis determination, causing situs inversus in some PCD patients. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Lung | 8.5 | Medium |
| Trachea | 7.9 | Medium |
| Fallopian Tube | 6.8 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung carcinoma) | 6.5 | RNA-seq data from GTEx |
| BEAS-2B (Bronchial epithelial) | 7.1 | RNA-seq data from GTEx |
| HepG2 (Hepatocellular carcinoma) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.128G>A (p.Arg43Gln) | Missense | Rare | Likely pathogenic; disrupts DRC assembly |
| c.202C>T (p.Arg68*) | Nonsense | Rare | Loss of function; associated with PCD |
| c.349_350del (p.Leu117fs) | Frameshift | Rare | Loss of function; reported in PCD patients |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in DMAC2 lead to truncated or absent protein, impairing dynein regulatory complex function and ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DMAC2.
Dominant Negative (DN)
No dominant-negative mutations have been described for DMAC2.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Dynein regulatory complex |
| • Microtubule-based movement | • Axoneme |
| • Ciliary motility |
Pathways
• Ciliary motility
• Axonemal dynein complex assembly
Protein Summary
DMAC2 is a 244-amino acid protein that localizes to the axoneme of cilia and flagella. It is a core component of the dynein regulatory complex (DRC), which is located at the base of the outer dynein arms and interacts with radial spokes to regulate dynein activity. The protein contains a coiled-coil domain that mediates interactions with other DRC subunits. Defects in DMAC2 result in impaired ciliary beating and are a cause of primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMAC2 Knockout HEK293 Cell Line | EDJ-KQ3207 | Human | 55101 | Details Get a Quote |
| DMAC2L Knockout HEK293 Cell Line | EDJ-KQ8681 | Human | 27109 | Details Get a Quote |
| DMAC2 Knockout A-549 Cell Line | EDJ-KQ24670 | Human | 55101 | Details Get a Quote |
| DMAC2 Knockout HCT 116 Cell Line | EDJ-KQ24671 | Human | 55101 | Details Get a Quote |
| DMAC2 Knockout HeLa Cell Line | EDJ-KQ24672 | Human | 55101 | Details Get a Quote |
| DMAC2L Knockout A-549 Cell Line | EDJ-KQ34881 | Human | 27109 | Details Get a Quote |
| DMAC2L Knockout HCT 116 Cell Line | EDJ-KQ34882 | Human | 27109 | Details Get a Quote |
| DMAC2L Knockout HeLa Cell Line | EDJ-KQ34883 | Human | 27109 | Details Get a Quote |
