Gene: CALR

Alternate names for this Gene: CRT|HEL-S-99n|RO|SSA|cC1qR

Gene Summary: Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: calreticulin

Type of Gene: protein-coding

rs1010222 in CALR gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs1010222 in CALR gene and Finding of Mean Corpuscular Hemoglobin PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs2974751 in CALR gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs1010222 in CALR gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.