NUP62
Chr 19ARnucleoporin 62
Also known as: IBSN, SNDI, p62
The protein is an essential component of the nuclear pore complex that regulates transport of macromolecules between the nucleus and cytoplasm, and also plays a role in mitotic cell cycle progression by regulating centrosome segregation and spindle orientation. Mutations cause infantile striatonigral degeneration with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.32), consistent with the severe early-onset neurodegeneration affecting the basal ganglia.
Disputed — evidence questions this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NUP62 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools