Gene: NUP205

Alternate names for this Gene: C7orf14|NPHS13

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q33

Description of this Gene: nucleoporin 205

Type of Gene: protein-coding

rs4732134 in NUP205 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12530845 in NUP205 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs12530845 in NUP205 gene and Finding of Mean Corpuscular Hemoglobin PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs869312984 in NUP205 gene and NEPHROTIC SYNDROME, TYPE 13 PMID 26878725 2016 Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.

rs4294134 in NUP205 gene and Osteitis Deformans PMID 21623375 2011 Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

rs4294134 in NUP205 gene and Paget Disease PMID 21623375 2011 Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

rs12530805 in NUP205 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs150498874 in NUP205 gene and Venous Thromboembolism PMID 28203683 2017 Identification of unique venous thromboembolism-susceptibility variants in African-Americans.

rs4728358 in NUP205 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.