Gene
jph2
- ID
- ZDB-GENE-030131-9848
- Name
- junctophilin 2
- Symbol
- jph2 Nomenclature History
- Previous Names
-
- cb454 (1)
- im:7137591
- sb:cb454
- wu:fa07c08
- wu:fb74g06
- zgc:162172
- Type
- protein_coding_gene
- Location
- Chr: 23 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 hypertrophic cardiomyopathy 17. Is expressed in adaxial cell; cardiovascular system; musculature system; and somite. Orthologous to human JPH2 (junctophilin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb454 (15 images)
- IMAGE:7137591 (11 images)
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 |
|---|---|---|---|
| dilated cardiomyopathy 2E | Alliance | Cardiomyopathy, dilated, 2E | 619492 |
| hypertrophic cardiomyopathy 17 | Alliance | Cardiomyopathy, hypertrophic, 17 | 613873 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Junctophilin | MORN repeat |
|---|---|---|---|
|
UniProtKB:A4QNV2
|
781 |
Interactions and Pathways
No data available
Plasmids
No data available