Gene
ddhd2
- ID
- ZDB-GENE-080519-4
- Name
- DDHD domain containing 2
- Symbol
- ddhd2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have phospholipase activity. Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Predicted to localize to COPII-coated ER to Golgi transport vesicle. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 54. Orthologous to human DDHD2 (DDHD domain containing 2).
- 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 |
|---|---|---|---|
| hereditary spastic paraplegia 54 | Alliance | Spastic paraplegia 54, autosomal recessive | 615033 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | DDHD domain | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily | WWE domain | WWE domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3B647
|
429 | |||||
|
UniProtKB:A0A8M9QCF2
|
670 |
Interactions and Pathways
No data available
Plasmids
No data available