Primary Identifier | MGI:2429397 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 257632 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables muramyl dipeptide binding activity and pattern recognition receptor activity. Involved in several processes, including host-mediated regulation of intestinal microbiota composition; positive regulation of metabolic process; and positive regulation of signal transduction. Acts upstream of or within several processes, including positive regulation of MAPK cascade; regulation of gene expression; and response to bacterium. Predicted to be located in several cellular components, including Golgi apparatus; basolateral plasma membrane; and phagocytic vesicle. Predicted to be part of protein-containing complex. Predicted to be active in cytosol. Predicted to be extrinsic component of plasma membrane. Used to study inflammatory bowel disease 1. Human ortholog(s) of this gene implicated in several diseases, including Blau syndrome; autoimmune disease (multiple); familial Mediterranean fever; intestinal disease (multiple); and lung disease (multiple). Orthologous to human NOD2 (nucleotide binding oligomerization domain containing 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology and increased susceptibility to induced colitis. [provided by MGI curators] |