| Primary Identifier | MGI:1100882 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 18935 |
| 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 and sequence-specific double-stranded DNA binding activity. Involved in several processes, including nervous system development; positive regulation of metabolic process; and regulation of respiratory gaseous exchange by nervous system process. Acts upstream of or within several processes, including negative regulation of type B pancreatic cell proliferation; nervous system development; and regulation of neuron differentiation. Located in nucleus. Is expressed in several structures, including adrenal gland; epibranchial placode; genitourinary system; gut; and nervous system. Used to study congenital central hypoventilation syndrome. Human ortholog(s) of this gene implicated in colorectal cancer; congenital central hypoventilation syndrome; and neuroblastoma. Orthologous to human PHOX2B (paired like homeobox 2B). PHENOTYPE: Heterozygotes for an ethylnitrosourea-induced mutation exhibit dilated pupils and reduced preweaning viability. Other mice heterozygous for mutations in this gene exhibit respiratory failure and specific loss of parafacial interneurons. Homozygotes are inviable. [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
