KDELR2

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

ER lumen protein retaining receptor 2 is a protein that in humans is encoded by the KDELR2 gene.[5][6][7]

AliasesKDELR2, ELP-1, ERD2.2, KDEL endoplasmic reticulum protein retention receptor 2, OI21, ELP1
End6,484,190 bp[1]
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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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
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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]

Clinical significance

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

See also

References

Further reading

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