| Primary Identifier | MGI:1261819 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 13436 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates; DNA binding activity; and lncRNA binding activity. Involved in negative regulation of gene expression, epigenetic. Acts upstream of or within several processes, including cellular response to amino acid stimulus; epigenetic regulation of gene expression; and negative regulation of transcription by RNA polymerase II. Located in chromosome, centromeric region; heterochromatin; and nucleus. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and hemolymphoid system. Used to study immunodeficiency-centromeric instability-facial anomalies syndrome 1. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); facioscapulohumeral muscular dystrophy 4; immunodeficiency-centromeric instability-facial anomalies syndrome 1; and thymoma. Orthologous to human DNMT3B (DNA methyltransferase 3 beta). PHENOTYPE: Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. [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
