ER lumen protein retaining receptor 2 is a protein that in humans is encoded by the KDELR2 gene .[ 5] [ 6] [ 7]
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, 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.[ 7]
Implications in Disease
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^ a b c GRCh38: Ensembl release 89: ENSG00000136240 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000079111 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Hsu VW, Shah N, Klausner RD (Jun 1992). "A brefeldin A-like phenotype is induced by the overexpression of a human ERD-2-like protein, ELP-1" . Cell . 69 (4): 625–35. doi :10.1016/0092-8674(92)90226-3 . PMC 7133352 . PMID 1316805 .
^ Lewis MJ, Pelham HR (Oct 1992). "Sequence of a second human KDEL receptor". J Mol Biol . 226 (4): 913–6. doi :10.1016/0022-2836(92)91039-R . PMID 1325562 .
^ a b "Entrez Gene: KDELR2 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2" .
^ Efthymiou, S; Herman, I; Rahman, F; Anwar, N; Maroofian, R; Yip, J; Mitani, T; Calame, DG; Hunter, JV; Sutton, VR; Yilmaz Gulec, E; Duan, R; Fatih, JM; Marafi, D; Pehlivan, D; Jhangiani, SN; Gibbs, RA; Posey, JE; SYNAPS Study, Group; Maqbool, S; Lupski, JR; Houlden, H (July 2021). "Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features" . American Journal of Medical Genetics. Part A . 185 (7): 2241–2249. doi :10.1002/ajmg.a.62221 . PMC 8436746 . PMID 33964184 .
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