KDELR2

Protein-coding gene in the species Homo sapiens
KDELR2
Identifiers
AliasesKDELR2, ELP-1, ERD2.2, KDEL endoplasmic reticulum protein retention receptor 2, OI21, ELP1
External IDsOMIM: 609024; MGI: 1914163; HomoloGene: 129146; GeneCards: KDELR2; OMA:KDELR2 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for KDELR2
Genomic location for KDELR2
Band7p22.1Start6,445,953 bp[1]
End6,484,190 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for KDELR2
Genomic location for KDELR2
Band5|5 G2Start143,389,593 bp[2]
End143,407,656 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 5: 143.39 – 143.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136240 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. {{cite journal}}: |first19= has generic name (help)

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.


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