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NUP62
nucleoporin 62
NUP62 is located on the long (q) arm of chromosome 19, at band 19q13.33. Arm ratio per GRCh38 - banding schematic.
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Overview
The NUP62 gene is located on chromosome 19 and encodes a member of the nucleoporin family. Nucleoporins are specialised proteins that form nuclear pore complexes (NPCs), the gateways controlling movement of proteins, RNA, and other molecules between the nucleus and cytoplasm. The NUP62 protein is particularly important for forming the central channel of the pore, where it helps create a selective barrier that permits passage of authorised cargo while excluding other molecules. This gene exemplifies the fundamental housekeeping machinery required for eukaryotic cell organisation, contributing to processes ranging from gene regulation to signal transduction.
What the gene does
The NUP62 protein functions as a central component of the nuclear pore complex, where it contributes to the formation of the permeability barrier. Nuclear pore complexes span the double membrane of the nuclear envelope and permit bidirectional transport: import of proteins needed for nuclear functions such as DNA replication and transcription, and export of messenger RNA and ribosomal subunits to the cytoplasm. NUP62 belongs to a subset of nucleoporins characterised by phenylalanine-glycine (FG) repeats-short amino acid motifs that create a gel-like meshwork in the pore channel. This meshwork acts as a molecular sieve, allowing small molecules to diffuse freely while restricting larger complexes unless they are chaperoned by specific transport receptors. By regulating nucleocytoplasmic exchange, NUP62 indirectly influences virtually all nuclear processes, including gene expression, cell cycle progression, and responses to cellular stress.
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Chromosome location
NUP62 is located at chromosomal band 19q13.33 on the long arm of chromosome 19. This region lies near the telomere and contains a cluster of genes with diverse cellular functions. The precise exon structure and transcript variants of NUP62 have been documented in genomic databases, though the gene itself is relatively compact compared to many nuclear-envelope-associated genes.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. The NUP62 protein is primarily defined by the presence of multiple phenylalanine-glycine (FG) repeat motifs distributed throughout its sequence. These intrinsically disordered regions lack stable three-dimensional structure in isolation but adopt functional conformations when assembled into the nuclear pore complex. The FG repeats mediate interactions with transport receptors and contribute to the selective permeability properties of the nuclear pore channel.
Key variants
Genetic variation in NUP62 has been documented in population databases, though the clinical significance of most variants remains uncertain. Because the gene encodes an essential component of nuclear transport machinery, severe loss-of-function changes would be expected to compromise cellular viability. Consequently, variants compatible with normal development are likely to have subtle or context-dependent effects. Research into nucleoporin variants is an emerging area, with ongoing efforts to characterise how changes in nuclear pore composition might influence disease susceptibility.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
NUP62 is not currently associated with specific Mendelian disorders in clinical databases. However, altered expression or dysfunction of nuclear pore components has been implicated in a range of cellular stress responses and may contribute to complex disease phenotypes. Research into nucleoporin biology suggests potential relevance to neurodegenerative conditions and cancer, though direct causal links to NUP62 variants have not been established. The gene's essential housekeeping role means that severe pathogenic variants are probably incompatible with development, while milder changes may modulate disease risk in ways not yet fully understood.
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 NUP62 gene do?
NUP62 provides instructions for making a protein that forms part of nuclear pore complexes, the channels controlling molecular movement between the cell nucleus and cytoplasm. It helps create the selective barrier that determines which molecules can pass through the pore.
Where is NUP62 located in the genome?
NUP62 is located on the long arm of chromosome 19 at position 19q13.33, near the end of the chromosome.
Are there diseases linked to NUP62 variants?
Currently, no specific inherited disorders are attributed to NUP62 variants in clinical databases. The gene's essential role in nuclear transport means severe variants are likely incompatible with normal development, while milder changes remain under investigation.