Scientific Research

The literature on TNPO2 and the biology around it, gathered in one place. It runs from the paper that first tied TNPO2 variants to developmental delay out to the transport biology, the disease mechanisms under investigation, and the datasets a researcher can query directly.

TNPO2 disorder

The 2021 paper establishing pathogenic missense variants in TNPO2 as a cause of global developmental delay and CNS neurodevelopmental disease.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaThe founding clinical description: missense variants in TNPO2 causing global developmental delay and CNS neurodevelopmental disease.

Nuclear–cytoplasmic transport

TNPO2 is a nuclear import receptor. Its cargo repertoire, and the consequences of disrupted import, are the biology underlying the disorder.

The nuclear pore complex

The pore complexes through which nucleocytoplasmic traffic passes, and the selectivity that governs what crosses.

Structure and cargo recognition

How transportins recognise and bind cargo via the PY-NLS. Several entries concern TNPO1, the closely related paralogue, which is far better characterised.

Proposed disease mechanism

Altered mRNA translation as a putative common pathway for the observed phenotypes, with supporting yeast work on KAP104.

FUS, a confirmed TNPO2 cargo

FUS is a confirmed TNPO2 cargo. Its mislocalisation in ALS is well characterised, which makes that literature directly informative here.

Stress granules and neurodevelopmental disorders

Stress-granule–essential genes are enriched among neurodevelopmental disorders; TNPO2 is among them.

Stress granule essential genes and neurodevelopmental disordersScience AdvancesTNPO2 is among the stress-granule genes this work implicates in neurodevelopmental disorders.

Datasets and resources

Queryable data rather than literature: expression, interactions, and subcellular localisation.