| Primary Identifier | MGI:109344 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 14048 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables RNA binding activity and protein tyrosine phosphatase activity. Involved in mesodermal cell fate specification; positive regulation of DNA-templated transcription; and protein sumoylation. Acts upstream of or within several processes, including embryonic organ morphogenesis; epithelial cell differentiation; and positive regulation of cell population proliferation. Located in cytoplasm and nucleus. Part of protein-DNA complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study branchiootorenal syndrome. Human ortholog(s) of this gene implicated in branchiootorenal syndrome and branchiootorenal syndrome 1. Orthologous to human EYA1 (EYA transcriptional coactivator and phosphatase 1). PHENOTYPE: Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia. [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
