KDELR3
KDEL Endoplasmic Reticulum Protein Retention Receptor 3
Gene Information Card
| Symbol | KDELR3 |
|---|---|
| Full Name | KDEL Endoplasmic Reticulum Protein Retention Receptor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 11015 ncbi.nlm.nih.gov/gene/11015 |
| Ensembl ID | ENSG00000100197 |
| UniProt ID | O43731 |
| OMIM ID | 609196 |
| HGNC ID | 6305 |
| Aliases | ERD2L3, KDELR3, ERD2.3 |
Description
KDELR3 encodes a member of the KDEL receptor family, which is involved in the retrieval of endoplasmic reticulum (ER) resident proteins that contain a C-terminal KDEL motif. The receptor binds to KDEL-bearing proteins in the Golgi and facilitates their retrograde transport back to the ER, thereby maintaining ER homeostasis and protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Brain | 8.1 | Low |
| Heart | 7.4 | Low |
| Lung | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 11.8 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| A549 | 7.3 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • KDEL sequence binding | • Golgi to ER retrograde transport |
| • endoplasmic reticulum | • Golgi apparatus |
| • protein retention in ER lumen |
Pathways
• ER to Golgi anterograde transport
• Golgi-to-ER retrograde transport
Protein Summary
The KDELR3 protein is a multi-pass transmembrane receptor localized to the Golgi apparatus. It recognizes and binds proteins with a C-terminal KDEL sequence, facilitating their retrieval from the Golgi back to the ER. This function is critical for maintaining the proper composition of ER luminal proteins and preventing secretion of ER-resident chaperones.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDELR3 Knockout HEK293 Cell Line | EDJ-KQ6614 | Human | 11015 | Details Get a Quote |
| KDELR3 Knockout A-549 Cell Line | EDJ-KQ32232 | Human | 11015 | Details Get a Quote |
| KDELR3 Knockout HCT 116 Cell Line | EDJ-KQ32234 | Human | 11015 | Details Get a Quote |
| KDELR3 Knockout HeLa Cell Line | EDJ-KQ32235 | Human | 11015 | Details Get a Quote |
