Gene
mtmr14
- ID
- ZDB-GENE-030131-2649
- Name
- myotubularin related protein 14
- Symbol
- mtmr14 Nomenclature History
- Previous Names
-
- fc14d11
- wu:fc14d11 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have phosphatidylinositol-3-phosphatase activity. Involved in several processes, including muscle cell cellular homeostasis; musculoskeletal movement; and regulation of autophagy. Human ortholog(s) of this gene implicated in centronuclear myopathy 1. Orthologous to human MTMR14 (myotubularin related protein 14).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Diotel et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Dowling et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| centronuclear myopathy 1 | Alliance | {Centronuclear myopathy, autosomal, modifier of} | 160150 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | MTMR14, PH-GRAM domain | Myotubularin-related protein 14 | Protein-tyrosine phosphatase, active site | Protein-tyrosine phosphatase-like |
|---|---|---|---|---|---|
|
UniProtKB:E7F0C5
|
630 | ||||
|
UniProtKB:A0A8M3ATB6
|
611 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mtmr14-201
(1)
|
Ensembl | 5,230 nt |
Interactions and Pathways
No data available
Plasmids
No data available