| Primary Identifier | MGI:99458 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 17260 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; HMG box domain binding activity; and histone deacetylase binding activity. Involved in several processes, including heart development; modulation of chemical synaptic transmission; and positive regulation of cell differentiation. Acts upstream of with a negative effect on AMPA selective glutamate receptor signaling pathway and NMDA selective glutamate receptor signaling pathway. Acts upstream of or within several processes, including cardiac muscle hypertrophy in response to stress; circulatory system development; and skeletal system development. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; heart and pericardium; limb; and urinary system. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language. Orthologous to human MEF2C (myocyte enhancer factor 2C). PHENOTYPE: Mice homozygous for disruptions in this gene have cardiovascular abnormalities and die as embryos. [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
