Aliases for KDELR2 Gene
External Ids for KDELR2 Gene
Previous GeneCards Identifiers for KDELR2 Gene
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]
GeneCards Summary for KDELR2 Gene
KDELR2 (KDEL Endoplasmic Reticulum Protein Retention Receptor 2) is a Protein Coding gene. Diseases associated with KDELR2 include Osteogenesis Imperfecta, Type Xxi and Sucrase-Isomaltase Deficiency, Congenital. Among its related pathways are Insulin receptor recycling and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include ER retention sequence binding and KDEL sequence binding. An important paralog of this gene is KDELR3.
UniProtKB/Swiss-Prot Summary for KDELR2 Gene
Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum (PubMed:1325562, PubMed:18086916). Binding is pH dependent, and is optimal at pH 5-5.4 (By similarity).