Gene
jph3b
- ID
- ZDB-GENE-060503-415
- Name
- junctophilin 3b
- Symbol
- jph3b Nomenclature History
- Previous Names
-
- jph3
- fc26e06
- si:ch211-255l14.9
- wu:fc26e06
- Type
- protein_coding_gene
- Location
- Chr: 25 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 Huntington's disease-like 2. Orthologous to human JPH3 (junctophilin 3).
- 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 |
|---|---|---|---|
| Huntington's disease-like 2 | Alliance | Huntington disease-like 2 | 606438 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Junctophilin | MORN repeat |
|---|---|---|---|
|
UniProtKB:A0A0R4IT36
|
791 |
Interactions and Pathways
No data available
Plasmids
No data available