Gene: KDELR2

Alternate names for this Gene: ELP-1|ERD2.2

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.1

Description of this Gene: KDEL endoplasmic reticulum protein retention receptor 2

Type of Gene: protein-coding

Gene: DAGLB

Alternate names for this Gene: DAGLBETA|KCCR13L

Gene Summary:

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.1

Description of this Gene: diacylglycerol lipase beta

Type of Gene: protein-coding

rs7797644 in KDELR2;DAGLB gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs6796 in KDELR2;DAGLB gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6796 in KDELR2;DAGLB gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6796 in KDELR2;DAGLB gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.