NUP188 Chromosome 9
Nucleoporin 188
Upload your DNA to see your personal genotypes for variants in NUP188.
What This Gene Does
The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
"Nucleoporins|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000095319
Associated Conditions (4)
Sandestig-stefanova syndrome
NUP188-related disorder
Inborn genetic diseases
Microcephaly
Key Variants
RS147521699
Conflicting classifications of pathogenicity
Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
Health Risk
RS200712113
Conflicting classifications of pathogenicity
NUP188-related disorder, NUP188-related disorder
Health Risk
RS745598716
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1455161894
Likely pathogenic
Health Risk
RS1588270041
Likely pathogenic
Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
Health Risk
RS2131167421
Likely pathogenic
Microcephaly, Sandestig-stefanova syndrome, Microcephaly
Health Risk
RS2131186551
Likely pathogenic
Microcephaly, Sandestig-stefanova syndrome, Microcephaly
Health Risk
RS1366326755
Pathogenic
Health Risk
RS1452146532
Pathogenic
Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
Health Risk
RS1842286098
Pathogenic
Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
Health Risk
RS1842678057
Pathogenic
Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
Health Risk
RS2492070130
Pathogenic
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147521699 | Health Risk | Conflicting classifications of pathogenicity | Sandestig-stefanova syndrome, Sandestig-stefanova syndrome |
| RS200712113 | Health Risk | Conflicting classifications of pathogenicity | NUP188-related disorder, NUP188-related disorder |
| RS745598716 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1455161894 | Health Risk | Likely pathogenic | — |
| RS1588270041 | Health Risk | Likely pathogenic | Sandestig-stefanova syndrome, Sandestig-stefanova syndrome |
| RS2131167421 | Health Risk | Likely pathogenic | Microcephaly, Sandestig-stefanova syndrome, Microcephaly |
| RS2131186551 | Health Risk | Likely pathogenic | Microcephaly, Sandestig-stefanova syndrome, Microcephaly |
| RS1366326755 | Health Risk | Pathogenic | — |
| RS1452146532 | Health Risk | Pathogenic | Sandestig-stefanova syndrome, Sandestig-stefanova syndrome |
| RS1842286098 | Health Risk | Pathogenic | Sandestig-stefanova syndrome, Sandestig-stefanova syndrome |
| RS1842678057 | Health Risk | Pathogenic | Sandestig-stefanova syndrome, Sandestig-stefanova syndrome |
| RS2492070130 | Health Risk | Pathogenic | — |
| RS780228848 | Health Risk | Pathogenic | Sandestig-stefanova syndrome, NUP188-related disorder, Sandestig-stefanova syndrome |
| RS780594725 | Health Risk | Pathogenic | Sandestig-stefanova syndrome, Sandestig-stefanova syndrome |
| RS2492120046 | Health Risk | Pathogenic/Likely pathogenic | Sandestig-stefanova syndrome, Sandestig-stefanova syndrome |