NUP160 Chromosome 11
Nucleoporin 160
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What This Gene Does
A structural constituent of nuclear pore. Involved in mRNA export from nucleus and nephron development. Located in kinetochore and nuclear envelope. Part of nuclear pore outer ring. Implicated in nephrotic syndrome type 19. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000030066
Associated Conditions (4)
NUP160-related disorder
Osteopetrosis
Nephrotic syndrome
type 19
Key Variants
RS137886182
Conflicting classifications of pathogenicity
Health Risk
RS144811467
Conflicting classifications of pathogenicity
Health Risk
RS148589426
Conflicting classifications of pathogenicity
NUP160-related disorder, NUP160-related disorder
Health Risk
RS202237054
Conflicting classifications of pathogenicity
Health Risk
RS755721902
Conflicting classifications of pathogenicity
Osteopetrosis, Osteopetrosis
Health Risk
RS1475321521
Pathogenic
Health Risk
RS2135334498
Pathogenic
Nephrotic syndrome, type 19, Nephrotic syndrome
Health Risk
RS2135385033
Pathogenic
Nephrotic syndrome, type 19, Nephrotic syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137886182 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144811467 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148589426 | Health Risk | Conflicting classifications of pathogenicity | NUP160-related disorder, NUP160-related disorder |
| RS202237054 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755721902 | Health Risk | Conflicting classifications of pathogenicity | Osteopetrosis, Osteopetrosis |
| RS1475321521 | Health Risk | Pathogenic | — |
| RS2135334498 | Health Risk | Pathogenic | Nephrotic syndrome, type 19, Nephrotic syndrome |
| RS2135385033 | Health Risk | Pathogenic | Nephrotic syndrome, type 19, Nephrotic syndrome |