AlphaFold predicted structure
TNPO2 · O14787
Mean pLDDT
91.2/ 100
Very high
897 residues
Confidence breakdown
- Very high(≥ 90)78%
- Confident(70–90)18%
- Low(50–70)1%
- Very low(< 50)4%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TNPO2
Chr 19p13.13transportin 2
- Aliases:
- IPO3, KPNB2B, FLJ12155, TRN2
- MANE:
- ENST00000425528.6
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
0.68Intellectual disability
0.50microcephaly
0.50Hypotonia
0.50Seizure
0.50hereditary disease
0.34neurodevelopmental disorder
0.27retinitis pigmentosa
0.10early-onset non-syndromic cataract
0.08Cone rod dystrophy
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Transportin-2
Probably functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity)
Diseases associated with TNPO2
Curated MONDO disease pages that list TNPO2 among their top associated genes.