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  2. KDELR2 - KDEL endoplasmic reticulum protein retention receptor 2 Gene

KDELR2 - KDEL endoplasmic reticulum protein retention receptor 2 Gene

Homo sapiens

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

Gene ID: 11014 | Gene type: protein coding

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

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