| 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 7.1.0) 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. Heterozygosity for KO or specific intronic (splice) mutations affects sleep patterns. [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
