Gene
eif2b5
- ID
- ZDB-GENE-030131-5364
- Name
- eukaryotic translation initiation factor 2B, subunit 5 epsilon
- Symbol
- eif2b5 Nomenclature History
- Previous Names
-
- fd14g07
- wu:fd14g07
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have guanyl-nucleotide exchange factor activity; translation initiation factor activity; and translation initiation factor binding activity. Predicted to be involved in biosynthetic process. Predicted to localize to eukaryotic translation initiation factor 2B complex. Human ortholog(s) of this gene implicated in leukoencephalopathy with vanishing white matter. Is expressed in midbrain; myotome; optic vesicle; pharyngeal arch; and retina. Orthologous to human EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7150951 (13 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| leukoencephalopathy with vanishing white matter 5 | Alliance | Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure | 620315 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| leukoencephalopathy with vanishing white matter | eif2b5zc102/zc102 | standard conditions | Keefe et al., 2020 |
| leukoencephalopathy with vanishing white matter | eif2b5zc103/zc103 | standard conditions | (2) |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003307 | W2 domain |
| Domain | IPR005835 | Nucleotidyl transferase domain |
| Domain | IPR035543 | Translation initiation factor eIF-2B subunit epsilon, N-terminal |
| Domain | IPR044123 | Translation initiation factor eIF-2B subunit epsilon, W2 domain |
| Family | IPR051956 | eIF2B Complex Subunit Epsilon |
| Homologous_superfamily | IPR011004 | Trimeric LpxA-like superfamily |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR029044 | Nucleotide-diphospho-sugar transferases |
| Repeat | IPR001451 | Hexapeptide repeat |
Domain Details Per Protein
| Protein | Length | Armadillo-type fold | eIF2B Complex Subunit Epsilon | Hexapeptide repeat | Nucleotide-diphospho-sugar transferases | Nucleotidyl transferase domain | Translation initiation factor eIF-2B subunit epsilon, N-terminal | Translation initiation factor eIF-2B subunit epsilon, W2 domain | Trimeric LpxA-like superfamily | W2 domain |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A8WG65
|
703 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available