NUP205 gene

nucleoporin 205

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Nephrotic syndrome, type 13

From UniProt:

Nephrotic syndrome 13 (NPHS13): A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. [MIM:616893]

Cytogenetic Location: 7q33, which is the long (q) arm of chromosome 7 at position 33

Molecular Location: base pairs 135,557,914 to 135,648,753 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q33, which is the long (q) arm of chromosome 7 at position 33
  • C7orf14
  • NPHS13