Neb Gene Summary [Mouse]
Predicted to enable actin filament binding activity. Predicted to be involved in cardiac muscle thin filament assembly. Predicted to act upstream of or within regulation of actin filament length and sarcomere organization. Located in Z disc. Is expressed in cardiac muscle tissue; heart; hindlimb muscle; palatal shelf; and trunk dermomyotome. Used to study nemaline myopathy 2. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-6 and nemaline myopathy 2. Orthologous to human NEB (nebulin). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Neb |
| Official Name | nebulin [Source:MGI Symbol;Acc:MGI:97292] |
| Ensembl ID | ENSMUSG00000026950 |
| Bio databases IDs | |
| Aliases | nebulin |
| Synonyms | AI595938, AMC6, NEB177D, nebulin, NEM2 |
| Species | Mouse, Mus musculus |
| 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 mouse Neb often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of muscle
- serine-rich region
- protein binding
- Src Homology 3 domain superfamily
- Nebulin repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- nemaline myopathy type 2
- nemaline myopathy
- arthrogryposis multiplex congenita-6
- hereditary disorder
- progressive muscle weakness
- ptosis
- lung squamous cell carcinoma
- squamous cell lung cancer
- growth failure
- idiopathic hydrops fetalis
regulates
- Ca2+
- SLN
role in cell
- organization
- formation
- isometric tension
- structure
- length
- uptake in
- maximum tension
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- actin cytoskeleton
- cytosol
- myofibrils
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Neb gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cardiac muscle thin filament assembly
- muscle organ development
- regulation of actin filament length
- somatic muscle development
Cellular Component
Where in the cell the gene product is active
- Z disc
- extracellular vesicular exosome
- actin cytoskeleton
- cytosol
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- structural constituent of muscle
- protein binding