Gene
jph3a
- ID
- ZDB-GENE-110408-64
- Name
- junctophilin 3a
- Symbol
- jph3a Nomenclature History
- Previous Names
-
- si:ch211-146m13.3
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to be involved in regulation of synaptic plasticity. Predicted to be located in endoplasmic reticulum; membrane; and sarcoplasm. Predicted to be part of junctional membrane complex. Predicted to be active in endoplasmic reticulum membrane and plasma membrane. 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 | Additional Resources | Length | Junctophilin | MORN repeat |
|---|---|---|---|---|
| UniProtKB:E7F2R3 | InterPro | 887 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch211-146m13.3-201
(1)
|
Ensembl | 4,176 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance