Gene
tmem43
- ID
- ZDB-GENE-040426-2348
- Name
- transmembrane protein 43
- Symbol
- tmem43 Nomenclature History
- Previous Names
-
- zgc:85946
- Type
- protein_coding_gene
- Location
- Unmapped
- Description
- Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 5; and autosomal dominant Emery-Dreifuss muscular dystrophy 7. Orthologous to human TMEM43 (transmembrane protein 43).
- Genome Resources
-
- Alliance (1)
- Gene:406520 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:85946 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Zink et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 5 | Alliance | Arrhythmogenic right ventricular dysplasia 5 | 604400 |
| autosomal dominant auditory neuropathy 3 | Alliance | Auditory neuropathy, autosomal dominant 3 | 619832 |
| autosomal dominant Emery-Dreifuss muscular dystrophy 7 | Alliance | Emery-Dreifuss muscular dystrophy 7, AD | 614302 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR012430 | Transmembrane protein 43 family |
Domain Details Per Protein
| Protein | Length | Transmembrane protein 43 family |
|---|---|---|
|
UniProtKB:Q6NUT9
|
282 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance