Gene
dnajc30b
- ID
- ZDB-GENE-131121-532
- Name
- DnaJ (Hsp40) homolog, subfamily C, member 30b
- Symbol
- dnajc30b Nomenclature History
- Previous Names
-
- si:ch211-235m3.11
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Orthologous to human DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30).
- 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 |
|---|---|---|---|
| Leber-like hereditary optic neuropathy, autosomal recessive 1 | 619382 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Chaperone J-domain superfamily | DnaJ domain | Mitochondrial ATP Synthase-Associated |
|---|---|---|---|---|
|
UniProtKB:E7F8P1
|
269 | |||
|
UniProtKB:A0A8M9QHB5
|
261 | |||
|
UniProtKB:A0A8M3AI79
|
172 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
dnajc30b-201
(1)
|
Ensembl | 1,682 nt |
Interactions and Pathways
No data available
Plasmids
No data available