Gene
jph1a
- ID
- ZDB-GENE-040724-233
- Name
- junctophilin 1a
- Symbol
- jph1a Nomenclature History
- Previous Names
-
- jph1 (1)
- si:rp71-1m12.3
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to localize to several cellular components, including endoplasmic reticulum; endoplasmic reticulum membrane; and junctional membrane complex. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Orthologous to human JPH1 (junctophilin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease axonal type 2K | Alliance | {?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of} | 607831 |
| Congenital myopathy 25 | 620964 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Junctophilin | MORN repeat |
|---|---|---|---|
|
UniProtKB:F1R2C3
|
683 |
Interactions and Pathways
No data available
Plasmids