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Protein Coding Gene : Nup214 nucleoporin 214

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 7.0.0)

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 cytoplasmic side of nuclear pore. 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]
  • synonyms:
  • MGD-MRK-5812,
  • MGI:91943,
  • CAN,
  • nucleoporin 214,
  • cDNA sequence BC039282,
  • BC039282,
  • Nup214,
  • MGI:2446288,
  • D2H9S46E,
  • DNA segment, Chr 2, human D9S46E

Features --> Cross References

Genome

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0 Involved In Mutations

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0 UTRs

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

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

40 Pathways

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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