KDELR2
KDEL Endoplasmic Reticulum Protein Retention Receptor 2
Gene Information Card
| Symbol | KDELR2 |
|---|---|
| Full Name | KDEL Endoplasmic Reticulum Protein Retention Receptor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 11014 ncbi.nlm.nih.gov/gene/11014 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | P33947 |
| OMIM ID | 609024 |
| HGNC ID | 6304 |
| Aliases | ERD2.2, ELP-1, KDEL receptor 2 |
Description
KDELR2 encodes a member of the KDEL receptor family, which is localized to the Golgi apparatus and retrieves endoplasmic reticulum (ER) resident proteins that contain a C-terminal KDEL motif. This retrieval process is essential for maintaining ER homeostasis and proper protein folding. The protein is a seven-transmembrane domain receptor that cycles between the Golgi and ER.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis Imperfecta | Mutations in KDELR2 disrupt ER protein retrieval, leading to defective collagen processing and bone fragility. | ClinVar, OMIM |
| Congenital Disorder of Glycosylation | Impaired KDEL receptor function may affect glycoprotein quality control in the ER. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Low |
| Brain | 8.3 | Low |
| Liver | 15.7 | Medium |
| Pancreas | 10.1 | Low |
| Testis | 20.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.2 | Embryonic kidney cells |
| HeLa | 14.6 | Cervical carcinoma cells |
| HepG2 | 22.1 | Hepatocellular carcinoma cells |
| K562 | 9.8 | Chronic myelogenous leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.200C>T (p.Pro67Leu) | missense | Rare | Alters transmembrane domain, reduces receptor activity |
| c.500G>A (p.Arg167Gln) | missense | Rare | Impairs KDEL binding and retrieval |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or critical transmembrane domains lead to reduced or absent KDEL receptor activity, impairing ER protein retrieval.
Gain of Function (GOF)
No gain-of-function mutations have been reported for KDELR2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for KDELR2.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport | • KDEL receptor activity |
| • Golgi membrane | • protein retention in ER lumen |
| • intracellular protein transport |
Pathways
• ER to Golgi anterograde transport
• KDEL receptor-mediated retrograde transport
Protein Summary
KDELR2 is a seven-transmembrane domain receptor that localizes to the Golgi apparatus and retrieves ER-resident proteins bearing a C-terminal KDEL motif. It cycles between the Golgi and ER, ensuring proper retention of chaperones and folding enzymes. Mutations in KDELR2 are associated with osteogenesis imperfecta and congenital disorders of glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDELR2 Knockout HEK293 Cell Line | EDJ-KQ7245 | Human | 11014 | Details Get a Quote |
| KDELR2 Knockout A-549 Cell Line | EDJ-KQ32229 | Human | 11014 | Details Get a Quote |
| KDELR2 Knockout HCT 116 Cell Line | EDJ-KQ32230 | Human | 11014 | Details Get a Quote |
| KDELR2 Knockout HeLa Cell Line | EDJ-KQ32231 | Human | 11014 | Details Get a Quote |
