KDELR2 Chromosome 7

KDEL endoplasmic reticulum protein retention receptor 2
5 variants 5 Health Risk

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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
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
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