DTNA Gene Summary [Human]
The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | DTNA |
| Official Name | dystrobrevin alpha [Source:HGNC Symbol;Acc:HGNC:3057] |
| Ensembl ID | ENSG00000134769 |
| Bio databases IDs | |
| Aliases | dystrobrevin alpha, dystrophin-related protein 3 |
| Synonyms | 2210407P21RIK, a-DB-1, adbn, Alpha dystrobrevin 2, D18S892E, DRP3, DTN, Dtna-ps1, DYSTROBREVIN alpha, dystrobrevin, alpha, DYSTROBREVIN α, dystrobrevin, α, Gm19389, LVNC1, MMCKR2, RGD1561985, α dystrobrevin, α dystrobrevin 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DTNA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EF-Hand
- ZZ
- B-box-type zinc finger superfamily
- EF hand
- EF-hand-like motif found in the dystrophin/dystrobrevin/dystrotelin family
- coiled-coil domain
- protein binding
- zinc finger domain
- phosphatase binding
- PDZ-domain binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic nephropathy
- glioblastoma
- glioblastoma cancer
- primary dilated cardiomyopathy
- ventricular noncompaction
- endometrioma
- epileptic seizure
- cardiac fibrosis
- Huntington disease
- tumorigenesis
role in cell
- formation
- formation in
- expression in
- synaptic transmission
- morphology
- stabilization
- stability
- length
- abnormal morphology
- interaction in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell junction
- intermediate filament cytoskeleton
- Cytoplasm
- cell periphery
- Nucleus
- cytosol
- cytoplasmic face of plasma membrane
- nucleoplasm
- neuromuscular junctions
- synapse
- sarcolemma
- cellular protrusions
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DTNA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuromuscular synaptic transmission
- signal transduction
- synaptic transmission
- striated muscle contraction
Cellular Component
Where in the cell the gene product is active
- intermediate filament cytoskeleton
- cytoplasm
- sarcolemma
- extrinsic to internal side of plasma membrane
- cell junction
- macromolecular complex
- synapse
- plasma membrane
- axon
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- PDZ domain binding