NXF2B

Chr X

nuclear RNA export factor 2B

Also known as: bA353J17.1

The protein facilitates the export of mRNA from the nucleus to the cytoplasm as part of the nuclear RNA export machinery. Mutations cause intellectual disability and developmental delay with X-linked inheritance. The gene shows significant constraint against loss-of-function variants, suggesting intolerance to reduced protein function.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.56
LOEUF
Mechanism
Clinical SummaryNXF2B
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.71) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.56LOEUF
pLI 0.713
Z-score 2.37
OE 0.12 (0.040.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.38Z-score
OE missense 0.54 (0.420.71)
39 obs / 72.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.12 (0.040.56)
00.351.4
Missense OE0.54 (0.420.71)
00.61.4
Synonymous OE1.08
01.21.6
LoF obs/exp: 1 / 8.4Missense obs/exp: 39 / 72.0Syn Z: -0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NXF2B · 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

No active trials found for this gene.

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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found