| Primary Identifier | MGI:107252 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 28114 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables mRNA (cytidine-5-)-methyltransferase activity and tRNA (cytidine-5-)-methyltransferase activity. Involved in several processes, including hair follicle maturation; meiotic cell cycle checkpoint signaling; and tRNA stabilization. Acts upstream of or within in utero embryonic development. Located in chromatoid body. Is expressed in several structures, including branchial arch; cardiovascular system; central nervous system; extraembryonic component; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 5. Orthologous to human NSUN2 (NOP2/Sun RNA methyltransferase 2). PHENOTYPE: Homozygous inactivation of this gene leads to decreased body size, male sterility, and hair cycle anomalies. Additional phenotypes may include reduced body fat, skeletal, craniofacial and eye defects, abnormal erythropoiesis, and altered energy expenditure and gas, glucose, and lipid homeostasis. [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
