TNPO2

Chr 19

transportin 2

Also known as: IDDHISD, IPO3, KPNB2B, TRN2

NCBI Gene: 30000 ENSG00000105576 UniProt: O14787

TNPO2 encodes transportin-2, a nuclear import receptor that transports proteins containing nuclear localization signals from the cytoplasm into the nucleus through nuclear pores. Mutations cause intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.129), indicating that functional copies are critical for normal development.

ResearchSummary from RefSeq, OMIM, UniProt

Predicted to enable nuclear import signal receptor activity and nuclear localization sequence binding activity. Predicted to be involved in protein import into nucleus. Predicted to act upstream of or within negative regulation of muscle cell differentiation. Predicted to be located in nuclear lumen. Predicted to be active in cytoplasm and nucleus. Implicated in intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.13

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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