Primary Identifier | MGI:88252 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 12317 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium ion binding activity; carbohydrate binding activity; and mRNA binding activity. Involved in several processes, including peptide antigen assembly with MHC class I protein complex; positive regulation of phagocytosis; and protein stabilization. Acts upstream of or within cortical actin cytoskeleton organization; positive regulation of non-canonical NF-kappaB signal transduction; and regulation of meiotic nuclear division. Located in endoplasmic reticulum; external side of plasma membrane; and extracellular space. Part of MHC class I peptide loading complex. Is expressed in several structures, including central nervous system; extraembryonic component; gut; placenta; and white fat. Used to study congestive heart failure. Human ortholog(s) of this gene implicated in several diseases, including endocrine gland cancer (multiple); gastrointestinal system cancer (multiple); hematologic cancer (multiple); lung cancer (multiple); and thrombocytosis. Orthologous to human CALR (calreticulin). PHENOTYPE: Homozygotes for targeted null mutations exhibit decreased cardiac cell mass, increased apoptosis of cardiac myocytes, neural tube defects (sometimes associated with exencephaly), omphalocele, and mid- to late-gestational lethality. [provided by MGI curators] |