| Primary Identifier | MGI:104672 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 21419 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including artery morphogenesis; kidney development; and limb morphogenesis. Acts upstream of with a negative effect on negative regulation of apoptotic process. Acts upstream of or within several processes, including negative regulation of neuron apoptotic process; positive regulation of transcription by RNA polymerase II; and sympathetic nervous system development. Located in nucleus. Is expressed in several structures, including genitourinary system; jaw; nervous system; sensory organ; and skin. Used to study Char syndrome; angle-closure glaucoma; and patent ductus arteriosus. Human ortholog(s) of this gene implicated in Char syndrome and patent ductus arteriosus. Orthologous to human TFAP2B (transcription factor AP-2 beta). PHENOTYPE: Homozygotes have kidney cysts and show neonatal or postnatal lethality, depending on strain background. On a congenic 129P2 background, mice have tremors, polydactyly, defective tubular secretory function and ion homeostasis, hypocalcemia, hyperphosphatemia, hyperuremia, and terminal renal failure. [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
