Primary Identifier | MGI:1100518 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 17131 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables collagen binding activity. Involved in several processes, including circulatory system development; negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains; and regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Acts upstream of or within cellular response to leukemia inhibitory factor; negative regulation of BMP signaling pathway; and transforming growth factor beta receptor signaling pathway. Located in nucleus. Part of protein-containing complex. Is expressed in several structures, including cardiovascular system; central nervous system; early conceptus; genitourinary system; and inner ear. Human ortholog(s) of this gene implicated in colorectal cancer and pancreatic adenocarcinoma. Orthologous to human SMAD7 (SMAD family member 7). PHENOTYPE: Mice homozygous for a hypomorphic allele display partial penetrance of prenatal lethality, reduced body size and weight, smaller litter size and B cell abnormalities. [provided by MGI curators] |