| Primary Identifier | MGI:2442184 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 216805 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable enzyme binding activity and enzyme inhibitor activity. Predicted to contribute to GTPase activator activity. Involved in several processes, including negative regulation of brown fat cell differentiation; negative regulation of cold-induced thermogenesis; and negative regulation of nitrogen compound metabolic process. Acts upstream of or within with a positive effect on negative regulation of cell population proliferation. Acts upstream of or within several processes, including negative regulation of cell population proliferation; positive regulation of transforming growth factor beta receptor signaling pathway; and regulation of intracellular signal transduction. Predicted to be located in several cellular components, including cilium; lysosomal membrane; and microtubule cytoskeleton. Predicted to be part of FNIP-folliculin RagC/D GAP. Predicted to be active in cytosol. Predicted to colocalize with cell-cell contact zone and midbody. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system gland; limb bud; and lung. Used to study Birt-Hogg-Dube syndrome and nonpapillary renal cell carcinoma. Human ortholog(s) of this gene implicated in Birt-Hogg-Dube syndrome; colorectal cancer; primary spontaneous pneumothorax; and renal cell carcinoma. Orthologous to human FLCN (folliculin). PHENOTYPE: Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
