| Primary Identifier | MGI:99829 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 12393 |
| 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 activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and bHLH transcription factor binding activity. Involved in several processes, including BMP signaling pathway; ligamentous ossification; and regulation of DNA-templated transcription. Acts upstream of with a positive effect on gene expression. Acts upstream of or within several processes, including positive regulation of cell population proliferation; positive regulation of macromolecule biosynthetic process; and skeletal system development. Located in chromatin; cytoplasm; and nucleus. Part of transcription regulator complex. Is expressed in several structures, including genitourinary system; jaw; limb mesenchyme; sensory organ; and skeleton. Used to study cleidocranial dysplasia and congenital hypothyroidism. Human ortholog(s) of this gene implicated in cleidocranial dysplasia; lung non-small cell carcinoma; and metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome. Orthologous to human RUNX2 (RUNX family transcription factor 2). PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, decreased body weight, abnormal hematopoiesis, and skeletal abnormalities. [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
