| Primary Identifier | MGI:98506 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 21413 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; E-box binding activity; and TFIIB-class transcription factor binding activity. Involved in positive regulation of neuron differentiation; positive regulation of transcription by RNA polymerase II; and protein-DNA complex assembly. Acts upstream of or within several processes, including endothelial cell activation; negative regulation of macromolecule biosynthetic process; and regulation of vascular endothelial growth factor signaling pathway. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study Pitt-Hopkins syndrome. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; Lynch syndrome; and Pitt-Hopkins syndrome. Orthologous to human TCF4 (transcription factor 4). PHENOTYPE: Homozygotes for a null allele show a partial block in early thymopoiesis, increased double-negative T cell count, and increased sensitivity to anti-CD3 induced apoptosis. Homozygotes for another null allele show neonatal or postnatal lethality, reduced pro-B cell number, and abnormal pontine nuclei. [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
