| Primary Identifier | MGI:108092 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 30948 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables aspartic-type endopeptidase inhibitor activity; signaling adaptor activity; and tau protein binding activity. Involved in several processes, including T-tubule organization; negative regulation of cation transmembrane transport; and regulation of heart contraction. Acts upstream of or within muscle cell differentiation. Located in several cellular components, including T-tubule; dendrite; and nuclear envelope. Is active in glutamatergic synapse; postsynapse; and presynapse. Is expressed in several structures, including central nervous system; embryo mesenchyme; eye; heart; and musculature. Human ortholog(s) of this gene implicated in breast carcinoma; centronuclear myopathy 2; and prostate adenocarcinoma. Orthologous to human BIN1 (bridging integrator 1). PHENOTYPE: Homozygous mutation of this gene results in thickened ventricular walls, densely packed myocardiocytes, and disorganization of myofibrils. Mutant animals die shortly after birth. [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
