| Primary Identifier | MGI:1098280 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 12914 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables several functions, including DNA-binding transcription factor binding activity; TFIIB-class transcription factor binding activity; and disordered domain specific binding activity. Involved in several processes, including cellular response to virus; face morphogenesis; and regulation of gene expression. Acts upstream of or within cellular response to hepatocyte growth factor stimulus; germ-line stem cell population maintenance; and positive regulation of macromolecule biosynthetic process. Located in nucleus. Part of RNA polymerase II transcription regulator complex; histone acetyltransferase complex; and outer kinetochore. Is expressed in several structures, including embryo ectoderm; eye; genitourinary system; heart; and skin. Used to study Rubinstein-Taybi syndrome; acute myeloid leukemia; autism spectrum disorder; and myelodysplastic syndrome. Human ortholog(s) of this gene implicated in Rubinstein-Taybi syndrome; acute lymphoblastic leukemia; and acute myeloid leukemia. Orthologous to human CREBBP (CREB binding protein). PHENOTYPE: Homozygotes for null or altered alleles die around midgestation with defects in hemopoiesis, blood vessel formation, and neural tube closure. Heterozygotes may exhibit skeletal, cardiac, and hematopoietic defects, retarded growth, and hematologic tumors. [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
