Actn2 Gene Summary [Mouse]
Enables several functions, including LIM domain binding activity; transcription coactivator activity; and transmembrane transporter binding activity. Involved in cardiac muscle cell development; positive regulation of transport; and protein localization to plasma membrane. Located in Z disc. Is expressed in several structures, including corpus striatum; face; heart; musculature; and trunk somite. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; congenital myopathy 8; and dilated cardiomyopathy 1AA. Orthologous to human ACTN2 (actinin alpha 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Actn2 |
| Official Name | actinin alpha 2 [Source:MGI Symbol;Acc:MGI:109192] |
| Ensembl ID | ENSMUSG00000052374 |
| Bio databases IDs | |
| Aliases | actinin alpha 2 |
| Synonyms | 1110008F24Rik, actinin alpha 2, actinin α 2, Alpha2 Actinin, Alpha-actinin, Alpha-actinin 2, CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ, Sarcomeric alpha-actinin, Sarcomeric α-actinin, α-actinin, α-actinin-2 |
| 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 Actn2 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
- transcription regulator
- LXXLL motif
- transcription co-activator
- protein binding activity, bridging
- calmodulin-like domain
- Ca2+ insensitive EF hand
- identical protein binding
- EF-hand domain
- cytoskeletal protein binding
- structural constituent of cytoskeleton
- phosphatidylinositol-4,5-bisphosphate binding
- ion channel binding
- rod domain
- SPEC
- LIM-domain binding
- channel regulator
- Calponin homology domain
- EF-hand domain pair
- EFh
- protein domain specific binding
- protein binding
- actin filament binding
- Spectrin repeats
- actin-binding domain
- structural constituent of muscle
- integrin binding
- calponin homology (CH) domain superfamily
- Spectrin repeat
- structural molecule
Pathways
Biological processes and signaling networks where the Actn2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
- Actin Cytoskeleton Signaling
- Germ Cell-Sertoli Cell Junction Signaling
- ILK Signaling
- Integrin Signaling
- Leukocyte Extravasation Signaling
- Paxillin Signaling
- Regulation of Cellular Mechanics by Calpain Protease
- Remodeling of Epithelial Adherens Junctions
- Sertoli Cell-Sertoli Cell Junction Signaling
- VEGF Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- familial hypertrophic cardiomyopathy type 23
- periodontitis
- dilated cardiomyopathy type 1AA
- intrinsic cardiomyopathy
- congenital myopathy with structured cores and Z-line abnormalities
- autosomal dominant adult-onset distal myopathy type 6
- Huntington disease
- dilated cardiomyopathy
- metastasis
- oral squamous cell carcinoma
role in cell
- activation in
- binding in
- transmembrane potential
- formation
- assembly
- development
- adhesion
- organization
- formation in
- crizotinib sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- soluble fraction
- membrane fraction
- polyribosome fractions
- glutaminergic synapse
- cortical actin cytoskeleton
- cytoskeleton
- organelle
- Cytoplasm
- Extracellular Space
- cellular membrane
- focal adhesions
- actin cytoskeleton
- Plasma Membrane
- myofilaments
- actin filaments
- sarcomere
- cytosol
- synaptic membrane
- alpha granules
- dendritic spines
- spine apparatus
- synapse
- myofibrils
- Z line
- microfilaments
- membrane processes
- pseudopodia
- filopodia
- perikaryon
- dendrites
- postsynaptic density
- axospinous synapses
- plasma
- vesicle fraction
- synaptosomal fractions
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Actn2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle cell development
- sarcomere organization
- cell adhesion
- regulation of apoptotic process
- positive regulation of potassium ion transport
- negative regulation of potassium ion transport
- negative regulation of protein localization at cell surface
- actin filament uncapping
- regulation of membrane potential
- positive regulation of transcription, DNA-dependent
- positive regulation of endocytic recycling
- cardiac muscle cell development
- positive regulation of cation channel activity
- microspike assembly
- focal adhesion assembly
- actin cytoskeleton organization
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- platelet alpha granule lumen
- extracellular region
- actin filament
- cell projection
- plasma membrane
- Z disc
- cytoskeleton
- extracellular vesicular exosome
- focal adhesion
- dendritic spine
- cell junction
- filopodium
- cytosol
- pseudopodium
- cortical actin cytoskeleton
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein domain specific binding
- integrin binding
- ion channel binding
- titin Z domain binding
- actin filament binding
- phosphatidylinositol-4,5-bisphosphate binding
- structural constituent of muscle
- protein binding
- calcium ion binding
- FATZ binding
- ligand-dependent nuclear receptor transcription coactivator activity
- LIM domain binding
- titin binding
- cytoskeletal protein binding