Aliases for NUP205 Gene
External Ids for NUP205 Gene
Previous HGNC Symbols for NUP205 Gene
Previous GeneCards Identifiers for NUP205 Gene
This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]
GeneCards Summary for NUP205 Gene
NUP205 (Nucleoporin 205) is a Protein Coding gene. Diseases associated with NUP205 include Nephrotic Syndrome 13 and Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis. Among its related pathways are Transport of Mature Transcript to Cytoplasm and Regulation of Glucokinase by Glucokinase Regulatory Protein. GO annotations related to this gene include structural constituent of nuclear pore.
UniProtKB/Swiss-Prot for NUP205 Gene
Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC.