IPO13

Chr 1

importin 13

Also known as: IMP13, KAP13, LGL2, RANBP13

NCBI Gene: 9670 ENSG00000117408 UniProt: O94829

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.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009]

ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.20

Clinical Summary— IPO13

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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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ClinVar Variants

93 VUS of 118 total submissions

Explore recent and relevant literature in Research Assistant →

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?

0.20LOEUF

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 OE?0.09 (0.05–0.20)

0≤0.351.4

Missense OE?0.58 (0.53–0.63)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 5 / 53.0Missense obs/exp: 312 / 540.2Syn Z: 2.15

ClinVar Variant Classifications

118 submitted variants in ClinVar

ClinVar

Classification Summary

VUS93

Likely Benign4

Benign2

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	93	0	93
Likely Benign	2	2	4
Benign	0	2	2
Total	95	4	99

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

10 pathogenic / likely-pathogenic (of 18) ClinVar copy-number / structural variants overlap IPO13 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →