| Primary Identifier | MGI:104671 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 21418 |
| 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 factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and transcription coregulator activity. Involved in several processes, including cranial nerve development; embryonic morphogenesis; and regulation of gene expression. Acts upstream of or within several processes, including camera-type eye development; face morphogenesis; and nervous system development. Located in clathrin-coated pit and nucleus. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; jaw; and sensory organ. Used to study orofacial cleft. Human ortholog(s) of this gene implicated in branchiooculofacial syndrome. Orthologous to human TFAP2A (transcription factor AP-2 alpha). PHENOTYPE: Homozygous null mutants die perinatally with anencephaly, craniofacial and neural tube defects, thoraco-abdominoschisis and defects in sensory organs, cranial ganglia, skeleton, and heart. On some genetic backgrounds, heterozygotes may exhibit exencephaly. [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
