Gene
kdelr2b
- ID
- ZDB-GENE-030131-4189
- Name
- KDEL endoplasmic reticulum protein retention receptor 2b
- Symbol
- kdelr2b Nomenclature History
- Previous Names
-
- kdelr2l
- wu:fa93g04
- wu:fc79e05
- zgc:66047
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable ER retention sequence binding activity. Predicted to be involved in protein retention in ER lumen. Predicted to act upstream of or within protein transport. Predicted to be located in COPI-coated vesicle membrane; Golgi membrane; and endoplasmic reticulum membrane. Predicted to be active in cis-Golgi network and endoplasmic reticulum. Is expressed in ectoderm; epidermis; notochord; otic vesicle; and splanchnocranium. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 21. Orthologous to human KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6908091 (7 images)
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 |
|---|---|---|---|
| osteogenesis imperfecta type 21 | Alliance | Osteogenesis imperfecta, type XXI | 619131 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR000133 | ER lumen protein retaining receptor |
Domain Details Per Protein
| Protein | Length | ER lumen protein retaining receptor |
|---|---|---|
|
UniProtKB:Q6PH70
|
212 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kdelr2b-201
(1)
|
Ensembl | 1,431 nt |
Interactions and Pathways
No data available
Plasmids
No data available