| Primary Identifier | MGI:1916192 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 68942 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable protein domain specific binding activity. Predicted to be involved in several processes, including regulation of cell cycle process; regulation of synapse organization; and vacuolar transport. Predicted to be located in several cellular components, including bounding membrane of organelle; kinetochore microtubule; and midbody. Predicted to be part of ESCRT III complex and nuclear pore. Predicted to be active in glutamatergic synapse; multivesicular body; and postsynaptic density. Predicted to colocalize with late endosome and lysosome. Is expressed in several structures, including central nervous system; fronto-nasal process; genitourinary system; spleen; and vibrissa. Used to study frontotemporal dementia. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis; chromosome 3-linked frontotemporal dementia; and frontotemporal dementia. Orthologous to human CHMP2B (charged multivesicular body protein 2B). PHENOTYPE: Mice homozygous for a hypomorphic gene trapped allele display reduced dendritic spine and excitatory synapse density in the hippocampus. Heterozygosity for p.Q165* mutation affects neural stem cells and leads to neurological defects. [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
