Gene: KDELR3

Alternate names for this Gene: ERD2L3

Gene Summary: This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. 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. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.1

Description of this Gene: KDEL endoplasmic reticulum protein retention receptor 3

Type of Gene: protein-coding

rs12004 in KDELR3 gene and Biliary calculi PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.