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

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

rs73057397 in DAGLB;KDELR2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs73057397 in DAGLB;KDELR2 gene and Monocyte count procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs73057397 in DAGLB;KDELR2 gene and Monocyte count result PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs6964421 in DAGLB;KDELR2 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6964421 in DAGLB;KDELR2 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.