AlphaFold predicted structure
NUP62 · P37198
Mean pLDDT
57.9/ 100
Low
522 residues
Confidence breakdown
- Very high(≥ 90)23%
- Confident(70–90)11%
- Low(50–70)6%
- Very low(< 50)61%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NUP62
Chr 19q13.33nucleoporin 62
- Aliases:
- p62, DKFZp547L134, IBSN, SNDI, MGC841
- MANE:
- ENST00000352066.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalAdult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalStructural basal ganglia disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
infantile bilateral striatal necrosis
0.61familial infantile bilateral striatal necrosis
0.58influenza
0.54HIV infectious disease
0.54viral infectious disease
0.53COVID-19
0.37Histiocytosis
0.37Intellectual disability
0.18hypertensive disorder
0.15neurodegenerative disease
0.13
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Nuclear pore glycoprotein p62
Essential component of the nuclear pore complex (PubMed:1915414). The N-terminal is probably involved in nucleocytoplasmic transport (PubMed:1915414). The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex (PubMed:1915414, PubMed:24107630). Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation (PubMed:24107630). It might be involved in protein recruitment to the centrosome after nuclear breakdown (PubMed:24107630)
Diseases associated with NUP62
Curated MONDO disease pages that list NUP62 among their top associated genes.