Gene
tjp2b
- ID
- ZDB-GENE-040718-58
- Name
- tight junction protein 2b (zona occludens 2)
- Symbol
- tjp2b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to localize to bicellular tight junction. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 51; disease of metabolism; and progressive familial intrahepatic cholestasis 4. Is expressed in several structures, including digestive system; immature eye; nervous system; pronephros; and segmental plate. Orthologous to human TJP2 (tight junction protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92094 (16 images)
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 |
|---|---|---|---|
| progressive familial intrahepatic cholestasis 4 | Alliance | Cholestasis, progressive familial intrahepatic 4 | 615878 |
| Hypercholanemia, familial 1 | 607748 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | PDZ domain | PDZ superfamily |
|---|---|---|---|
|
UniProtKB:Q6DHS7
|
371 |
Interactions and Pathways
No data available
Plasmids
No data available