NXF2

Chr X

nuclear RNA export factor 2

Also known as: CT39, TAPL-2

NCBI Gene: 56001ENSG00000269405UniProt: Q9GZY0

The protein facilitates the export of mRNA from the nucleus to the cytoplasm as part of the nuclear RNA export machinery. Mutations cause X-linked intellectual disability, often with delayed speech and language development. This follows X-linked inheritance with males more severely affected than carrier females.

Summary from RefSeq, UniProt
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0
Active trials
1
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.86
LOEUF
—
Mechanism
Clinical Summary— NXF2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.18) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.86LOEUF
pLI 0.446
Z-score 1.78
OE 0.18 (0.06–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.48Z-score
OE missense 0.37 (0.25–0.56)
16 obs / 43.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.18 (0.06–0.86)
0≤0.351.4
Missense OE0.37 (0.25–0.56)
0≤0.61.4
Synonymous OE0.50
0≤1.21.6
LoF obs/exp: 1 / 5.5Missense obs/exp: 16 / 43.4Syn Z: 1.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NXF2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients