Gene
dph2
- ID
- ZDB-GENE-030219-100
- Name
- diphthamide biosynthesis 2
- Symbol
- dph2 Nomenclature History
- Previous Names
-
- id:ibd5058
- zgc:162269 (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable 4 iron, 4 sulfur cluster binding activity. Predicted to contribute to 2-(3-amino-3-carboxypropyl)histidine synthase activity. Predicted to be involved in protein histidyl modification to diphthamide. Predicted to be part of 2-(3-amino-3-carboxypropyl)histidine synthase complex. Is expressed in brain; immature eye; somite; and tail bud. Human ortholog(s) of this gene implicated in diphthamide deficiency syndrome 2. Orthologous to human DPH2 (diphthamide biosynthesis 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Kudoh et al., 2001
- 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 |
|---|---|---|---|
| diphthamide deficiency syndrome 2 | Alliance | Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | 620062 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Diphthamide synthesis DHP2 | Diphthamide synthesis DPH1/DPH2 | Diphthamide synthesis DPH1/DPH2, domain 1 | Diphthamide synthesis DPH1/DPH2, domain 3 |
|---|---|---|---|---|---|
|
UniProtKB:A4QN59
|
498 |
Interactions and Pathways
No data available
Plasmids
No data available