NCBP3
Chr 17nuclear cap binding subunit 3
NCBP3 encodes a protein that binds to the 7-methylguanosine cap of mRNAs and forms an alternative cap-binding complex with NCBP1, specifically facilitating mRNA export from the nucleus to the cytoplasm and playing a critical role in antiviral defense responses. Mutations in NCBP3 cause autosomal recessive intellectual developmental disorder with severe speech delay and behavioral abnormalities. This gene shows high constraint against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NCBP3 · 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