TMEM43 Gene Summary [Human]
This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | TMEM43 |
| Official Name | transmembrane protein 43 [Source:HGNC Symbol;Acc:HGNC:28472] |
| Ensembl ID | ENSG00000170876 |
| Bio databases IDs | |
| Aliases | transmembrane protein 43 |
| Synonyms | 1200015A22Rik, ARVC5, ARVD5, AUNA2, AUNA3, EDMD7, LUMA, transmembrane protein 43 |
| 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 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 human 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