Gene: NUP93

Alternate names for this Gene: NIC96

Gene Summary: 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 encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 16

Location in Chromosome : 16q13

Description of this Gene: nucleoporin 93

Type of Gene: protein-coding

rs10852553 in NUP93 gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

rs145473779 in NUP93 gene and NEPHROTIC SYNDROME, TYPE 12 PMID 26878725 2016 Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.

rs118070237 in NUP93 gene and Potassium measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs16962767 in NUP93 gene and Triglycerides measurement PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.