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MIRAGE
transmembrane protein 43
Summary
- Gene Symbol
-
- TMEM43
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Cardiomyopathy
- Cell membrane
- Disease variant
- Emery-Dreifuss muscular dystrophy
- Endoplasmic reticulum
- Innate immunity
- Neuropathy
- Non-syndromic deafness
- Nucleus
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9BTV4 |
|
| A0A024R2F9 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| lipid metabolic process | ||
| innate immune response | ||
| nuclear membrane organization | ||
| nuclear membrane organization |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nuclear inner membrane | ||
| endoplasmic reticulum lumen | ||
| endoplasmic reticulum membrane | ||
| Golgi apparatus | ||
| plasma membrane |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- transmembrane protein 43
- Functional Category
-
- M: Cell wall/membrane/envelope biogenesis
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| lipid metabolic process |
| nuclear membrane organization |
| InterPro |
|---|
| Transmembrane protein 43 family |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050431 | arrhythmogenic right ventricular cardiomyopathy | |
| DOID:0070252 | autosomal dominant Emery-Dreifuss muscular dystrophy 7 | |
| DOID:0110074 | arrhythmogenic right ventricular dysplasia 5 | |
| DOID:0112373 | autosomal dominant auditory neuropathy 3 |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 118309266 | SCOMX27519 | ||
| 118903424 | BALMU26739 | ||
| 122204276 | PANLE21705 | ||
| 123802061 | URSAM13106 |
