NUP107 Chromosome 12
Nucleoporin 107
Upload your DNA to see your personal genotypes for variants in NUP107.
What This Gene Does
This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
12q15
Ensembl
ENSG00000111581
Associated Conditions (9)
Inborn genetic diseases
Galloway-Mowat syndrome 7
NUP107-related disorder
Nephrotic syndrome
type 11
Ovarian dysgenesis 6
Early onset focal segmental glomerulosclerosis
Global developmental delay
Light complexion
Key Variants
RS139326798
Conflicting classifications of pathogenicity
Health Risk
RS2499213337
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS539628480
Conflicting classifications of pathogenicity
Health Risk
RS1165860389
Likely pathogenic
Galloway-Mowat syndrome 7, Galloway-Mowat syndrome 7
Health Risk
RS1391838663
Likely pathogenic
NUP107-related disorder, NUP107-related disorder
Health Risk
RS1565707103
Likely pathogenic
Nephrotic syndrome, type 11, Nephrotic syndrome
Health Risk
RS1876288355
Likely pathogenic
Health Risk
RS2136056550
Likely pathogenic
Nephrotic syndrome, type 11, Nephrotic syndrome
Health Risk
RS2498970944
Likely pathogenic
NUP107-related disorder, NUP107-related disorder
Health Risk
RS768060090
Likely pathogenic
NUP107-related disorder, NUP107-related disorder
Health Risk
RS774346160
Likely pathogenic
Nephrotic syndrome, type 11, Nephrotic syndrome
Health Risk
RS864321633
Likely pathogenic
Nephrotic syndrome, type 11, Nephrotic syndrome
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139326798 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2499213337 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS539628480 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1165860389 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 7, Galloway-Mowat syndrome 7 |
| RS1391838663 | Health Risk | Likely pathogenic | NUP107-related disorder, NUP107-related disorder |
| RS1565707103 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 11, Nephrotic syndrome |
| RS1876288355 | Health Risk | Likely pathogenic | — |
| RS2136056550 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 11, Nephrotic syndrome |
| RS2498970944 | Health Risk | Likely pathogenic | NUP107-related disorder, NUP107-related disorder |
| RS768060090 | Health Risk | Likely pathogenic | NUP107-related disorder, NUP107-related disorder |
| RS774346160 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 11, Nephrotic syndrome |
| RS864321633 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 11, Nephrotic syndrome |
| RS918323808 | Health Risk | Likely pathogenic | — |
| RS942432213 | Health Risk | Likely pathogenic | — |
| RS1430547081 | Health Risk | Pathogenic | — |
| RS1473034869 | Health Risk | Pathogenic | — |
| RS1555178358 | Health Risk | Pathogenic | Ovarian dysgenesis 6, Ovarian dysgenesis 6 |
| RS745342141 | Health Risk | Pathogenic | Galloway-Mowat syndrome 7, Galloway-Mowat syndrome 7 |
| RS754567507 | Health Risk | Pathogenic | — |
| RS864321632 | Health Risk | Pathogenic | Nephrotic syndrome, type 11, Nephrotic syndrome |
| RS864321687 | Health Risk | Pathogenic | Nephrotic syndrome, type 11, NUP107-related disorder |
| RS864321688 | Health Risk | Pathogenic | Nephrotic syndrome, type 11, Nephrotic syndrome |
| RS730882216 | Health Risk | Pathogenic/Likely pathogenic | Early onset focal segmental glomerulosclerosis, Global developmental delay, Light complexion |