NUP93 Chromosome 16
Nucleoporin 93
Upload your DNA to see your personal genotypes for variants in NUP93.
What This Gene Does
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. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
16q13
Ensembl
ENSG00000102900
Associated Conditions (13)
Nephrotic syndrome
type 12
NUP93-related disorder
Sarcoma
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Cervical cancer
Gastric cancer
Uterine carcinosarcoma
Focal segmental glomerulosclerosis
Colon adenocarcinoma
Colorectal cancer
Melanoma
Key Variants
RS145146218
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 12, NUP93-related disorder
Health Risk
RS376379631
Conflicting classifications of pathogenicity
Health Risk
RS762403631
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 12, Nephrotic syndrome
Health Risk
RS1233809089
Likely pathogenic
Health Risk
RS1341511822
Likely pathogenic
NUP93-related disorder, NUP93-related disorder
Health Risk
RS1351580598
Likely pathogenic
Nephrotic syndrome, type 12, Nephrotic syndrome
Health Risk
RS1596861969
Likely pathogenic
Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
Health Risk
RS1963877282
Likely pathogenic
Health Risk
RS201617246
Likely pathogenic
Nephrotic syndrome, type 12, Nephrotic syndrome
Health Risk
RS201924382
Likely pathogenic
Nephrotic syndrome, Nephrotic syndrome
Health Risk
RS2144456685
Likely pathogenic
Nephrotic syndrome, type 12, Nephrotic syndrome
Health Risk
RS138909849
Pathogenic
Nephrotic syndrome, type 12, Colon adenocarcinoma
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145146218 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 12, NUP93-related disorder |
| RS376379631 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762403631 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 12, Nephrotic syndrome |
| RS1233809089 | Health Risk | Likely pathogenic | — |
| RS1341511822 | Health Risk | Likely pathogenic | NUP93-related disorder, NUP93-related disorder |
| RS1351580598 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 12, Nephrotic syndrome |
| RS1596861969 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis |
| RS1963877282 | Health Risk | Likely pathogenic | — |
| RS201617246 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 12, Nephrotic syndrome |
| RS201924382 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2144456685 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 12, Nephrotic syndrome |
| RS138909849 | Health Risk | Pathogenic | Nephrotic syndrome, type 12, Colon adenocarcinoma |
| RS1962069724 | Health Risk | Pathogenic | — |
| RS2144636587 | Health Risk | Pathogenic | — |
| RS758865966 | Health Risk | Pathogenic | Nephrotic syndrome, type 12, Nephrotic syndrome |
| RS869320695 | Health Risk | Pathogenic | Nephrotic syndrome, type 12, Nephrotic syndrome |
| RS145473779 | Health Risk | Pathogenic/Likely pathogenic | Nephrotic syndrome, type 12, Colorectal cancer |
| RS757674160 | Health Risk | Pathogenic/Likely pathogenic | Nephrotic syndrome, type 12, Nephrotic syndrome |