KDELR2

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

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]

Clinical significance

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 (May 1992). "A brefeldin A-like phenotype is induced by the overexpression of a human ERD-2-like protein, ELP-1". Cell. 69 (4): 625–635. doi:10.1016/0092-8674(92)90226-3. PMC 7133352. PMID 1316805.
  6. ^ Lewis MJ, Pelham HR (August 1992). "Sequence of a second human KDEL receptor". Journal of Molecular Biology. 226 (4): 913–916. 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, et al. (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


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