NCBP3

Chr 17

nuclear 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.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.22
Clinical SummaryNCBP3
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.22LOEUF
pLI 0.999
Z-score 5.02
OE 0.09 (0.040.22)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.32Z-score
OE missense 0.65 (0.590.73)
232 obs / 354.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.09 (0.040.22)
00.351.4
Missense OE0.65 (0.590.73)
00.61.4
Synonymous OE1.01
01.21.6
LoF obs/exp: 3 / 35.0Missense obs/exp: 232 / 354.8Syn Z: -0.11

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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