This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleu
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name
Clinical Significance
Source
Reference
Evidence Score
Clear cell carcinoma of kidney
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through text mining
["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]
["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]
["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]
["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]
["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to NUP58 (see Related Genes above), that are NOT already directly curated for NUP58 itself -- a lead worth checking, not a confirmed association.