KDELR2

KDELR2
Identifiers
Aliases	KDELR2 , ELP-1, ERD2.2, KDEL endoplasmic reticulum protein retention receptor 2, OI21, ELP1
External IDs	OMIM: 609024; MGI: 1914163; HomoloGene: 129146; GeneCards: KDELR2; OMA:KDELR2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7p22.1 Start 6,445,953 bp [1] End 6,484,190 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 G2 Start 143,389,593 bp [2] End 143,407,656 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium tibia mucosa of sigmoid colon Achilles tendon rectum pylorus smooth muscle tissue cartilage tissue jejunal mucosa pericardium Top expressed in ascending aorta aortic valve belly cord migratory enteric neural crest cell molar seminal vesicula Gonadal ridge vas deferens gallbladder gastrula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function KDEL sequence binding ER retention sequence binding Cellular component integral component of membrane cis-Golgi network Golgi apparatus endoplasmic reticulum membrane endoplasmic reticulum membrane Golgi membrane transport vesicle COPI-coated vesicle membrane cytoplasmic vesicle Biological process protein transport protein retention in ER lumen intracellular protein transport vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum endoplasmic reticulum to Golgi vesicle-mediated transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11014 66913 Ensembl ENSG00000136240 ENSMUSG00000079111 UniProt P33947 Q9CQM2 RefSeq (mRNA) NM_006854 NM_001100603 NM_025841 RefSeq (protein) NP_001094073 NP_006845 NP_080117 Location (UCSC) Chr 7: 6.45 – 6.48 Mb Chr 5: 143.39 – 143.41 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Pathogenic variants in KDELR2 have been linked to Osteogenesis imperfecta. ^[8]

See also

• KDELR1
• KDELR3

References

1. GRCh38: Ensembl release 89: ENSG00000136240 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000079111 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: KDELR2 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2".
8. 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.

Further reading

• Pelham HR (1997). "The dynamic organisation of the secretory pathway". Cell Struct. Funct. 21 (5): 413–9. doi: 10.1247/csf.21.413 . PMID   9118249.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi: 10.1038/nature01782 . PMID   12853948.
• Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC   2882961 . PMID   12690205.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• van der Vlies D, Pap EH, Post JA, et al. (2002). "Endoplasmic reticulum resident proteins of normal human dermal fibroblasts are the major targets for oxidative stress induced by hydrogen peroxide". Biochem. J. 366 (Pt 3): 825–30. doi:10.1042/BJ20020618. PMC   1222834 . PMID   12071860.
• Xu XR, Huang J, Xu ZG, et al. (2002). "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver". Proc. Natl. Acad. Sci. U.S.A. 98 (26): 15089–94. Bibcode:2001PNAS...9815089X. doi: 10.1073/pnas.241522398 . PMC   64988 . PMID   11752456.