| 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 9.1.0) 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 circulatory system development; regulation of transcription by RNA polymerase II; and skeletal system development. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart and pericardium; and limb. 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
