IPO13

Chr 1

importin 13

Also known as: IMP13, KAP13, LGL2, RANBP13

NCBI Gene: 9670ENSG00000117408UniProt: O94829OMIM: 610411

This protein functions as a nuclear transport receptor that mediates the import of specific proteins from the cytoplasm to the nucleus, including transcription factors like PAX6 and other paired homeobox family members, as well as the nuclear export of eukaryotic translation initiation factor 1A. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and various neurological features. IPO13 is highly constrained against loss-of-function variants, indicating that proper dosage of this nuclear transport protein is critical for normal development.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.20
Clinical Summary— IPO13
⚡
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.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.20LOEUF
pLI 1.000
Z-score 6.11
OE 0.09 (0.05–0.20)
Highly constrained

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

Missense Constraint
3.49Z-score
OE missense 0.58 (0.53–0.63)
312 obs / 540.2 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.09 (0.05–0.20)
0≤0.351.4
Missense OE0.58 (0.53–0.63)
0≤0.61.4
Synonymous OE0.81
0≤1.21.6
LoF obs/exp: 5 / 53.0Missense obs/exp: 312 / 540.2Syn Z: 2.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IPO13 · 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

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
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Nuclear Transporter IPO13 Is Central to Efficient Neuronal Differentiation.
Gajewska KA et al.·Cells
2022Open Access
Transcriptomic profile dataset of embryonic stem cells (Wild-type and IPO13-Knock Out) with and without oxidative stress.
Gajewska KA et al.·Data Brief
2022Open Access
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.
Huang XF et al.·Exp Mol Med
2018Open Access
Respiratory Syncytial Virus Nonstructural Protein 1 Blocks Glucocorticoid Receptor Nuclear Translocation by Targeting IPO13 and May Account for Glucocorticoid Insensitivity.
Xie J et al.·J Infect Dis
2017
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.
Shoubridge C et al.·Pathogenetics
2010Open Access
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