TNPO2 Chromosome 19
Transportin 2
Upload your DNA to see your personal genotypes for variants in TNPO2.
What This Gene Does
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 active in cytoplasm and nucleus. Implicated in intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Importins|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000105576
Associated Conditions (6)
Inborn genetic diseases
Intellectual developmental disorder with hypotonia
impaired speech
and dysmorphic facies
Neurodevelopmental disorder
TNPO2-related disorder
Key Variants
RS770722987
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2145464604
Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Health Risk
RS2145464965
Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Health Risk
RS2145492753
Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Health Risk
RS2145496104
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2145582779
Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Health Risk
RS2512612604
Likely pathogenic
Health Risk
RS2512652630
Likely pathogenic
TNPO2-related disorder, TNPO2-related disorder
Health Risk
RS2512705295
Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Health Risk
RS2512705615
Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Health Risk
RS2145492785
Pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Health Risk
RS2145550047
Pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS770722987 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2145464604 | Health Risk | Likely pathogenic | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
| RS2145464965 | Health Risk | Likely pathogenic | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
| RS2145492753 | Health Risk | Likely pathogenic | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
| RS2145496104 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2145582779 | Health Risk | Likely pathogenic | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
| RS2512612604 | Health Risk | Likely pathogenic | — |
| RS2512652630 | Health Risk | Likely pathogenic | TNPO2-related disorder, TNPO2-related disorder |
| RS2512705295 | Health Risk | Likely pathogenic | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
| RS2512705615 | Health Risk | Likely pathogenic | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
| RS2145492785 | Health Risk | Pathogenic | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
| RS2145550047 | Health Risk | Pathogenic | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
| RS2145550093 | Health Risk | Pathogenic | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |