Gene
tnpo2b
- ID
- ZDB-GENE-211110-1
- Name
- transportin 2b
- Symbol
- tnpo2b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- 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 intracellular protein transport. Predicted to be active in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies. Orthologous to human TNPO2 (transportin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | Alliance | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 619556 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo-like helical | Armadillo-type fold | HEAT repeat | Importin beta family | Importin-beta, N-terminal domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PNK8 | InterPro | 889 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance