| Primary Identifier | MGI:95663 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14462 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; interleukin-2 receptor binding activity; and transcription coactivator binding activity. Involved in several processes, including epithelial tube formation; heart development; and intracellular signal transduction. Acts upstream of or within several processes, including hemopoiesis; regulation of gene expression; and ureter development. Located in nucleus. Is expressed in several structures, including branchial arch; early conceptus; genitourinary system; nervous system; and sensory organ. Used to study hypoparathyroidism-deafness-renal disease syndrome. Human ortholog(s) of this gene implicated in hypoparathyroidism; hypoparathyroidism-deafness-renal disease syndrome; nephrosis; and sensorineural hearing loss. Orthologous to human GATA3 (GATA binding protein 3). PHENOTYPE: Homozygous inactivation of this gene causes embryonic lethality and a variety of embryonic defects. Homozygotes for a spontaneous allele show partial hair loss and defects in hair structure and hair growth cycle regulation. Homozygotes for a null allele show severe cardiac outflow tract defects, such as ventricular septal defect, double outlet right ventricle, aortic arch anomalies and persistent truncus arteriosus. [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
