KDELR2 - KDEL endoplasmic reticulum protein retention receptor 2 Gene

Also Known as ELP1; OI21; ELP-1; ERD2.2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11014

About KDELR2

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:6,461,089-6,484,152 (from NCBI)

This gene has 6 transcripts (splice variants), 276 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 79.8), stomach (RPKM 78.5) and 25 other tissues.

Summary

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, usually 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

KDELR2 Products (2)

mRNA Protein Name
NM_001100603.2 NP_001094073.1 ER lumen protein-retaining receptor 2 isoform 2
NM_006854.4 NP_006845.1 ER lumen protein-retaining receptor 2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables KDEL sequence binding IDA
IDA: Inferred from direct assay
1325562 GOA
Biological Process GO Annotation Evidence References Source
involved in maintenance of protein localization in endoplasmic reticulum IMP
IMP: Inferred from mutant phenotype
33053334 GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IDA
IDA: Inferred from direct assay
1325562 GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
IMP: Inferred from mutant phenotype
33053334 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with COPI-coated vesicle membrane IDA
IDA: Inferred from direct assay
18086916 GOA
located in Golgi membrane IDA
IDA: Inferred from direct assay
1325562 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
1325562 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KDELR2 Protein Structure

ER_lumen_recept

ER_lumen_recept: ER lumen protein retaining receptor (28 - 169)

  • 0
  • 100
  • 200
  • 212 a.a.
Protein Preferred Names Protein Names

ER lumen protein-retaining receptor 2

  • (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2

Related Diseases

Diseases Alias
Osteogenesis Imperfecta, Type Xxi
  • OI21

  • Osteogenesis Imperfecta Type 21

  • Osteogenesis Imperfecta, Type 21

  • Osteogenesis Imperfecta Type Xxi

  • Osteogenesis Imperfecta 21

Dentinogenesis Imperfecta
  • Hereditary Opalescent Dentin

  • Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

  • Dgi

  • Capdepont Teeth

  • Dgi Without Oi

  • Di

  • Non-Syndromic Dgi

  • Non-Syndromic Dentinogenesis Imperfecta

  • Opalescent Teeth Without Oi

  • Opalescent Teeth Without Osteogenesis Imperfecta

  • Opalescent Dentin

Calvarial Doughnut Lesions With Bone Fragility
  • Calvarial Doughnut Lesions With Bone Fragility With Or Without Spondylometaphyseal Dysplasia

  • Calvarial Doughnut Lesions-Bone Fragility Syndrome

  • CDL

  • Doughnut Lesions Of Skull, Familial

  • Calvarial Doughnut Lesions With Bone Fragility And Spondylometaphyseal Dysplasia

  • Familial Doughnut Lesions Of Skull

  • CDLSMD

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KDELR2 RGD RGD:1304618
Mus musculus KDELR2 MGD MGI:1914163
Bos taurus KDELR2 VGNC VGNC:30519
Canis familiaris KDELR2 VGNC VGNC:42315
Felis catus KDELR2 VGNC VGNC:67934
Macaca mulatta KDELR2 VGNC VGNC:74011
Others KDELR2 NCBI