XPO5

Chr 6

exportin 5

Also known as: exp5

NCBI Gene: 57510ENSG00000124571UniProt: Q9HAV4

This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.25
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.25LOEUF
pLI 1.000
Z-score 6.65
OE 0.15 (0.10–0.25)
Highly constrained

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

Missense Constraint?
3.11Z-score
OE missense 0.66 (0.60–0.71)
422 obs / 644.2 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.15 (0.10–0.25)
0≤0.351.4
Missense OE?0.66 (0.60–0.71)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 11 / 71.8Missense obs/exp: 422 / 644.2Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

XPO5 · protein map & ClinVar variants

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

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