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NUP188
nucleoporin 188
NUP188 is located on the long (q) arm of chromosome 9, at band 9q34.11. Arm ratio per GRCh38 - banding schematic.
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Overview
NUP188 (nucleoporin 188) is a gene located on chromosome 9 that encodes a structural component of the nuclear pore complex. Nuclear pore complexes are large protein assemblies that span the nuclear envelope, the double membrane surrounding the cell nucleus. These complexes create channels through which molecules such as proteins, RNA, and signalling factors must pass to move between the nucleus and the rest of the cell.
Nucleoporin 188 belongs to a family of approximately 30 different nucleoporin proteins that assemble together to form the nuclear pore structure. As a scaffold nucleoporin, NUP188 contributes to the stable framework of the pore rather than directly binding cargo molecules. The coordinated function of nucleoporins ensures that cells can regulate gene expression, respond to signals, and complete cell division properly.
What the gene does
The nucleoporin 188 protein functions primarily as a structural element within the nuclear pore complex. It forms part of the inner ring scaffold, which provides architectural support for the pore's overall three-dimensional structure. This stable framework allows other nucleoporins to assemble correctly and maintains the selective barrier that controls molecular transport.
Nuclear pore complexes permit small molecules to pass freely by diffusion, but larger molecules such as proteins and messenger RNA require active transport mechanisms. The structural integrity provided by proteins like nucleoporin 188 is essential for this selective permeability. Research suggests that scaffold nucleoporins also influence the assembly and disassembly of nuclear pores during cell division, when the nuclear envelope must break down and reform.
Beyond transport, nuclear pore components may participate in organising chromatin near the nuclear periphery and coordinating gene expression programmes, though the specific contributions of individual nucleoporins to these processes continue to be investigated.
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Chromosome location
The NUP188 gene is located on the long arm of chromosome 9 at position 34.11 (cytogenetic band 9q34.11). This region lies near the telomeric end of chromosome 9. Specific details regarding the number of exons and the gene's complete genomic structure have not been fully catalogued in public databases.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. As a member of the nucleoporin family, nucleoporin 188 is predicted to contain regions that mediate protein-protein interactions with other nuclear pore components, enabling its incorporation into the scaffold structure. The protein likely adopts conformations that allow it to integrate into the curved architecture of the nuclear pore ring, though high-resolution structural data for the full-length protein remain limited.
Key variants
Genetic variants in NUP188 have been reported in clinical variant databases, though the gene is not currently associated with a well-defined inherited disorder. Variants that affect protein function could theoretically disrupt nuclear pore assembly or stability, potentially influencing cellular processes that depend on nuclear-cytoplasmic transport. The clinical significance of most reported NUP188 variants remains uncertain, and further research is needed to clarify their impact on human health.
Sample of pathogenic variants
9 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.3377_3378del | p.Ser1126fs | Pathogenic/Likely pathogenic | ★★☆☆ | Sandestig-stefanova syndrome |
c.124C>T | p.Arg42Ter | Pathogenic | ★☆☆☆ | not provided |
c.2020C>T | p.Gln674Ter | Pathogenic | ★☆☆☆ | not provided |
c.873_879del | p.Arg291fs | Pathogenic | ★☆☆☆ | See cases |
c.904_907del | p.Ile302fs | Pathogenic | ★☆☆☆ | Sandestig-stefanova syndrome |
c.1890G>A | p.Trp630Ter | Pathogenic | - | Sandestig-stefanova syndrome |
c.3144C>G | p.Tyr1048Ter | Pathogenic | - | NUP188-related disorder |
c.4078C>T | p.Gln1360Ter | Pathogenic | - | Sandestig-stefanova syndrome |
c.5032dup | p.Arg1678fs | Pathogenic | - | Sandestig-stefanova syndrome |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
At present, NUP188 is not firmly linked to any specific inherited condition in medical literature. Mutations in other nucleoporin genes have been associated with developmental disorders and neurological conditions, suggesting that disruption of nuclear pore function can have clinical consequences. Whether pathogenic variants in NUP188 contribute to similar phenotypes is an area of ongoing investigation.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the NUP188 gene do?
The NUP188 gene provides instructions for making nucleoporin 188, a structural protein that forms part of the nuclear pore complex. This complex controls the movement of molecules between the cell nucleus and cytoplasm, which is essential for gene expression and normal cell function.
Where is the NUP188 gene located?
NUP188 is located on chromosome 9 at position 9q34.11, near the end of the long arm of the chromosome.
Is NUP188 associated with any inherited conditions?
Currently, NUP188 is not definitively linked to any specific inherited disorder. While variants in the gene have been reported, their clinical significance remains under investigation.