| Primary Identifier | MGI:107755 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 18013 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific; E-box binding activity; and protein heterodimerization activity. Involved in several processes, including cellular response to electrical stimulus; regulation of DNA-templated transcription; and regulation of synapse maturation. Acts upstream of or within associative learning; behavioral fear response; and neuron development. Located in nucleus. Is expressed in several structures, including genitourinary system; limb; and nervous system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 72. Orthologous to human NEUROD2 (neuronal differentiation 2). PHENOTYPE: Homozygotes for a targeted null mutation show elevated neuronal apoptosis resulting in ataxia, incoordination, elevated seizure susceptibility, and death by 35 days. Heterozygotes are moderately affected, and adults are subject to unexplained death. [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
