| Primary Identifier | MGI:109337 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 12190 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable several functions, including gamma-tubulin binding activity; histone acetyltransferase activity; and identical protein binding activity. Involved in several processes, including establishment of protein localization to telomere; male meiosis I; and telomere maintenance via recombination. Acts upstream of or within several processes, including DNA metabolic process; hematopoietic stem cell proliferation; and signal transduction by p53 class mediator. Located in chromosome; cytoplasm; and nucleus. Is expressed in several structures, including alimentary system; central nervous system; early embryo; genitourinary system; and hemolymphoid system gland. Used to study Fanconi anemia complementation group D1 and breast cancer. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); esophagus squamous cell carcinoma; hereditary breast ovarian cancer syndrome; melanoma (multiple); and reproductive organ cancer (multiple). Orthologous to human BRCA2 (BRCA2 DNA repair associated). PHENOTYPE: Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA2 protein survive, are small, infertile, show improper tissue differentiation and develop lymphomas and carcinomas. [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
