DTNA (Dystrobrevin Alpha)
A component of the dystrophin-associated protein complex involved in muscle integrity and signaling
Gene Information Card
| Symbol | DTNA |
|---|---|
| Full Name | Dystrobrevin, alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 1837 ncbi.nlm.nih.gov/gene/1837 |
| Ensembl ID | ENSG00000134769 |
| UniProt ID | Q9Y4J8 |
| OMIM ID | 601239 |
| HGNC ID | 3057 |
| Aliases | DAP-3, DTN, Dystrobrevin alpha |
Description
DTNA encodes alpha-dystrobrevin, a component of the dystrophin-associated protein complex (DAPC) that links the cytoskeleton to the extracellular matrix. It is expressed in muscle and brain, playing roles in muscle stability, synaptic signaling, and cellular adhesion. Mutations in DTNA are associated with left ventricular noncompaction cardiomyopathy and muscular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Left ventricular noncompaction cardiomyopathy | Disruption of DAPC leads to impaired myocardial development and contractility | OMIM #604169 |
| Muscular dystrophy, limb-girdle type | Loss of dystrobrevin destabilizes the DAPC, causing muscle fiber degeneration | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 15.3 | Medium |
| Brain | 8.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 14.0 | High expression in heart-derived cells |
| Skeletal muscle myoblasts | 16.5 | High expression in muscle progenitors |
| SH-SY5Y (neuroblastoma) | 6.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation, loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Frameshift, likely pathogenic in cardiomyopathy |
| c.890G>A (p.Arg297His) | Missense | 0.02% | Uncertain significance, reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, disrupting DAPC integrity.
Gain of Function (GOF)
Not reported for DTNA.
Dominant Negative (DN)
Possible for missense variants that interfere with complex assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Dystrophin-associated glycoprotein complex (DAPC) – Reactome R-HSA-390522
• Striated muscle contraction – Reactome R-HSA-397014
Protein Summary
Alpha-dystrobrevin is a 743-amino acid protein that interacts with dystrophin, syntrophins, and sarcoglycans to form the DAPC. It contains coiled-coil domains and a ZZ-type zinc finger, mediating protein-protein interactions essential for membrane stability and signaling in muscle and neural tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DTNA Knockout HEK293 Cell Line | EDJ-KQ4484 | Human | 1837 | Details Get a Quote |
| DTNA Knockout HCT 116 Cell Line | EDJ-KQ27061 | Human | 1837 | Details Get a Quote |
| DTNA Knockout HeLa Cell Line | EDJ-KQ27062 | Human | 1837 | Details Get a Quote |
| DTNA Knockout A-549 Cell Line | EDJ-KQ61599 | Human | 1837 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
