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 enable thymidine kinase activity. Predicted to be involved in lipid metabolic process and nuclear membrane organization. Predicted to be located in endoplasmic reticulum membrane and nuclear envelope. Predicted to be active in nuclear inner membrane. Is expressed in several structures, including brain; gonad; head; liver; and otic vesicle. 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).
- 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