Aliases for NUP214 Gene
External Ids for NUP214 Gene
Previous GeneCards Identifiers for NUP214 Gene
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
GeneCards Summary for NUP214 Gene
NUP214 (Nucleoporin 214kDa) is a Protein Coding gene. Diseases associated with NUP214 include Acute Myeloid Leukemia With T(6;9)(P23;Q34) and Leukemia, Acute Lymphoblastic. Among its related pathways are Cellular response to heat stress and Glycosaminoglycan metabolism. GO annotations related to this gene include transporter activity and nucleocytoplasmic transporter activity.
UniProtKB/Swiss-Prot for NUP214 Gene
May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex.