KDELR2 Chromosome 7
KDEL endoplasmic reticulum protein retention receptor 2
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What This Gene Does
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]
Gene Info
Gene Group
KDEL endoplasmic reticulum protein retention receptors
Locus Type
gene with protein product
Location
7p22.1
Ensembl
ENSG00000136240
Associated Conditions (2)
Osteogenesis imperfecta
type 21
Key Variants
RS1785976222
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, type 21, Osteogenesis imperfecta
Health Risk
RS1265005474
Pathogenic
Osteogenesis imperfecta, type 21, Osteogenesis imperfecta
Health Risk
RS1785499146
Pathogenic
Osteogenesis imperfecta, type 21, Osteogenesis imperfecta
Health Risk
RS1785500333
Pathogenic
Osteogenesis imperfecta, type 21, Osteogenesis imperfecta
Health Risk
RS1785503102
Pathogenic
Osteogenesis imperfecta, type 21, Osteogenesis imperfecta
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1785976222 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, type 21, Osteogenesis imperfecta |
| RS1265005474 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 21, Osteogenesis imperfecta |
| RS1785499146 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 21, Osteogenesis imperfecta |
| RS1785500333 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 21, Osteogenesis imperfecta |
| RS1785503102 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 21, Osteogenesis imperfecta |