Identity
HGNC
LOCATION
7p22.1
LOCUSID
ALIAS
ELP-1,ELP1,ERD2.2,OI21
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11014
MIM: 609024
HGNC: 6305
Ensembl: ENSG00000136240
Variants:
dbSNP: 11014
ClinVar: 11014
TCGA: ENSG00000136240
COSMIC: KDELR2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000136240 | ENST00000258739 | P33947 |
| ENSG00000136240 | ENST00000258739 | A0A024QZT7 |
| ENSG00000136240 | ENST00000382267 | H7BYF7 |
| ENSG00000136240 | ENST00000490996 | P33947 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33964184 | 2021 | Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. | 4 |
| 34146461 | 2021 | KDELR2 promotes breast cancer proliferation via HDAC3-mediated cell cycle progression. | 16 |
| 33964184 | 2021 | Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. | 4 |
| 34146461 | 2021 | KDELR2 promotes breast cancer proliferation via HDAC3-mediated cell cycle progression. | 16 |
| 32534703 | 2020 | KDELR2 is an unfavorable prognostic biomarker and regulates CCND1 to promote tumor progression in glioma. | 12 |
| 32645101 | 2020 | Cell-type-specific differences in KDEL receptor clustering in mammalian cells. | 6 |
| 33053334 | 2020 | Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. | 25 |
| 32534703 | 2020 | KDELR2 is an unfavorable prognostic biomarker and regulates CCND1 to promote tumor progression in glioma. | 12 |
| 32645101 | 2020 | Cell-type-specific differences in KDEL receptor clustering in mammalian cells. | 6 |
| 33053334 | 2020 | Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. | 25 |
| 30621148 | 2019 | KDELR2 Competes with Measles Virus Envelope Proteins for Cellular Chaperones Reducing Their Chaperone-Mediated Cell Surface Transport. | 3 |
| 30760704 | 2019 | KDEL receptor regulates secretion by lysosome relocation- and autophagy-dependent modulation of lipid-droplet turnover. | 24 |
| 31342232 | 2019 | KDELR2 Promotes Glioblastoma Tumorigenesis Targeted by HIF1a via mTOR Signaling Pathway. | 15 |
| 30621148 | 2019 | KDELR2 Competes with Measles Virus Envelope Proteins for Cellular Chaperones Reducing Their Chaperone-Mediated Cell Surface Transport. | 3 |
| 30760704 | 2019 | KDEL receptor regulates secretion by lysosome relocation- and autophagy-dependent modulation of lipid-droplet turnover. | 24 |
Citation
Dessen P
KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54402/haematological-explorer/
