| Primary Identifier | MGI:103221 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 13506 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Involved in positive regulation of p38MAPK cascade. Acts upstream of or within cellular response to starvation. Located in adherens junction and desmosome. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and arrhythmogenic right ventricular dysplasia 11. Orthologous to human DSC2 (desmocollin 2). PHENOTYPE: Homozygous knockout increases the severity of cardiac pressure overload phenotypes (cardiac hypertrophy and fibrosis, decreased ventricular muscle contractility). Conditional homozygous KO in intestinal epithelial cells does not affect susceptibility to dextran sodium sulfate (DSS)-induced colitis. [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
