Gene
tjp2a
- ID
- ZDB-GENE-070925-2
- Name
- tight junction protein 2a (zona occludens 2)
- Symbol
- tjp2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 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; epidermis; nervous system; pronephros; and vasculature. Orthologous to human TJP2 (tight junction protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- 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 |
|---|---|---|---|
| progressive familial intrahepatic cholestasis 4 | Alliance | Cholestasis, progressive familial intrahepatic 4 | 615878 |
| Hypercholanemia, familial 1 | 607748 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001452 | SH3 domain |
| Domain | IPR001478 | PDZ domain |
| Domain | IPR008144 | Guanylate kinase-like domain |
| Domain | IPR008145 | Guanylate kinase/L-type calcium channel beta subunit |
| Family | IPR005417 | Tight junction protein ZO |
| Family | IPR005419 | Tight junction protein ZO-2 |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
| Homologous_superfamily | IPR036034 | PDZ superfamily |
Domain Details Per Protein
| Protein | Length | Guanylate kinase-like domain | Guanylate kinase/L-type calcium channel beta subunit | PDZ domain | PDZ superfamily | P-loop containing nucleoside triphosphate hydrolase | SH3 domain | SH3-like domain superfamily | Tight junction protein ZO | Tight junction protein ZO-2 |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8QB05
|
1225 | |||||||||
|
UniProtKB:A0A8M3B637
|
1280 | |||||||||
|
UniProtKB:F6PEN0
|
1198 | |||||||||
|
UniProtKB:E7FBB9
|
1221 |
Interactions and Pathways
No data available
Plasmids
No data available