| Primary Identifier | MGI:1095411 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 227720 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of nuclear pore. Acts upstream of or within mRNA export from nucleus; protein import into nucleus; and regulation of cell cycle. Predicted to be located in nuclear envelope. Predicted to be part of nuclear pore. Is expressed in future spinal cord; lung; and nervous system. Human ortholog(s) of this gene implicated in acute lymphoblastic leukemia; acute myeloid leukemia; and brain disease. Orthologous to human NUP214 (nucleoporin 214). PHENOTYPE: Embryos homozygous for a null mutation die between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product. In vitro, cultured 3.5-dpc mutant embryos arrest in the G2 phase, and show blastocoel contraction with defects in NLS-mediated protein import and polyadenylated RNA export. [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
