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 be involved in regulation of synaptic plasticity. Predicted to be located in endoplasmic reticulum and membrane. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa12230 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24624 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38021 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44251 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Huntington's disease-like 2 | Alliance | Huntington disease-like 2 | 606438 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Junctophilin | MORN repeat |
|---|---|---|---|---|
| UniProtKB:A0A0R4IT36 | InterPro | 791 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-255L14 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-194F5 | ZFIN Curated Data | |
| Encodes | EST | fc26e06 | ||
| Has Artifact | EST | fk54g04 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001122702 (1) | 2376 nt | ||
| Genomic | GenBank:AL929464 (2) | 145688 nt | ||
| Polypeptide | UniProtKB:A0A0R4IT36 (1) | 791 aa |
No data available