This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear env
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.
Nuclear envelope pore membrane protein POM 121 (Nuclear envelope pore membrane protein POM 121A) (Nucleoporin Nup121) (Pore membrane protein of 121 kDa)
Protein function
Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamel
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.
["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"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to POM121 (see Related Genes above), that are NOT already directly curated for POM121 itself -- a lead worth checking, not a confirmed association.