KDELR2 - KDEL endoplasmic reticulum protein retention receptor 2 Gene
Also Known as ELP1; OI21; ELP-1; ERD2.2
Species: Homo sapiens
About KDELR2
This gene has 6 transcripts (splice variants), 276 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 79.8), stomach (RPKM 78.5) and 25 other tissues.
Summary
Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
KDELR2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001100603.2 | NP_001094073.1 | ER lumen protein-retaining receptor 2 isoform 2 |
| NM_006854.4 | NP_006845.1 | ER lumen protein-retaining receptor 2 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables KDEL sequence binding |
IDA
IDA: Inferred from direct assay
|
1325562 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in maintenance of protein localization in endoplasmic reticulum |
IMP
IMP: Inferred from mutant phenotype
|
33053334 | GOA |
| involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
1325562 | GOA |
| involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum |
IMP
IMP: Inferred from mutant phenotype
|
33053334 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| colocalizes with COPI-coated vesicle membrane |
IDA
IDA: Inferred from direct assay
|
18086916 | GOA |
| located in Golgi membrane |
IDA
IDA: Inferred from direct assay
|
1325562 | GOA |
| located in endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
1325562 | GOA |
KDELR2 Protein Structure
ER_lumen_recept: ER lumen protein retaining receptor (28 - 169)
- 0
- 100
- 200
- 212 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ER lumen protein-retaining receptor 2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Osteogenesis Imperfecta, Type Xxi |
|
|
| Dentinogenesis Imperfecta |
|
|
| Calvarial Doughnut Lesions With Bone Fragility |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | KDELR2 | RGD | RGD:1304618 |
| Mus musculus | KDELR2 | MGD | MGI:1914163 |
| Bos taurus | KDELR2 | VGNC | VGNC:30519 |
| Canis familiaris | KDELR2 | VGNC | VGNC:42315 |
| Felis catus | KDELR2 | VGNC | VGNC:67934 |
| Macaca mulatta | KDELR2 | VGNC | VGNC:74011 |
| Others | KDELR2 | NCBI |