Tmem43 Gene Summary [Mouse]
Enables identical protein binding activity. Acts upstream of or within nuclear membrane organization. Located in endoplasmic reticulum lumen and nuclear inner membrane. Is expressed in several structures, including aorta; cartilage; future spinal cord; genitourinary system; and oral epithelium. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 5; autosomal dominant Emery-Dreifuss muscular dystrophy 7; and autosomal dominant auditory neuropathy 3. Orthologous to human TMEM43 (transmembrane protein 43). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Tmem43 |
| Official Name | transmembrane protein 43 [Source:MGI Symbol;Acc:MGI:1921372] |
| Ensembl ID | ENSMUSG00000030095 |
| Bio databases IDs | |
| Aliases | transmembrane protein 43 |
| Synonyms | 1200015A22Rik, ARVC5, ARVD5, AUNA2, AUNA3, EDMD7, LUMA, transmembrane protein 43 |
| 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 Tmem43 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Transmembrane protein 43
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant auditory neuropathy type 3
- cardiac steatosis
- autosomal dominant Emery-Dreifuss muscular dystrophy type 7
- familial arrhythmogenic right ventricular dysplasia type 5
- primary dilated cardiomyopathy
- focal interstitial fibrosis
- arrhythmogenic right ventricular cardiomyopathy
- arrhythmia
- cardiomyopathy
- hypertrophic cardiomyopathy
role in cell
- organization
- morphology
- disruption
- damage
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- endoplasmic reticulum mitochondria contact site
- Golgi Apparatus
- endoplasmic reticulum lumen
- inner nuclear membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tmem43 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- innate immune response
- lipid metabolic process
- nuclear membrane organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- nuclear inner membrane
- Golgi apparatus
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding