Gene
retreg1
- ID
- ZDB-GENE-130221-1
- Name
- reticulophagy regulator 1
- Symbol
- retreg1 Nomenclature History
- Previous Names
-
- fam134b
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to be involved in negative regulation of neuron apoptotic process and reticulophagy. Predicted to localize to integral component of endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in hereditary sensory and autonomic neuropathy type 2B. Orthologous to human RETREG1 (reticulophagy regulator 1).
- 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 sensory and autonomic neuropathy type 2B | Alliance | Neuropathy, hereditary sensory and autonomic, type IIB | 613115 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR043384 | Reticulophagy receptor 1/3 |
Domain Details Per Protein
| Protein | Length | Reticulophagy receptor 1/3 |
|---|---|---|
|
UniProtKB:A0A8M9PLU7
|
332 | |
|
UniProtKB:A0A8M1Q245
|
460 | |
|
UniProtKB:A0A2R8QB28
|
347 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
retreg1-201
(1)
|
Ensembl | 1,174 nt | ||
| mRNA |
retreg1-202
(1)
|
Ensembl | 1,243 nt | ||
| mRNA |
retreg1-203
(1)
|
Ensembl | 1,579 nt |
Interactions and Pathways
No data available
Plasmids
No data available