The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from
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.
Protein SEC13 homolog (GATOR2 complex protein SEC13) (SEC13-like protein 1) (SEC13-related protein)
Protein function
Functions as a component of the nuclear pore complex (NPC) and the COPII coat (PubMed:8972206). At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles (PubMed:8972206). Required for the exit of adipsin (CFD/AD
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","mTOR signaling pathway","Regulation of HSF1-mediated heat shock response","Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins"]
["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins"]
["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins"]
["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins"]
["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to SEC13 (see Related Genes above), that are NOT already directly curated for SEC13 itself -- a lead worth checking, not a confirmed association.