Gene
pax8
- ID
- ZDB-GENE-001030-3
- Name
- paired box 8
- Symbol
- pax8 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have DNA binding activity. Involved in anterior/posterior pattern specification involved in pronephros development; otic placode formation; and peripheral nervous system development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in congenital hypothyroidism and congenital nongoitrous hypothyroidism 2. Is expressed in several structures, including endocrine system; mesoderm; nervous system; neurogenic field; and pronephros. Orthologous to human PAX8 (paired box 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 58 figures from 41 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital nongoitrous hypothyroidism 2 | Alliance | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | 218700 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001523 | Paired domain |
| Domain | IPR022130 | Paired-box protein 2 C-terminal |
| Domain | IPR043182 | Paired DNA-binding domain |
| Family | IPR043565 | PAX family |
| Homologous_superfamily | IPR009057 | Homedomain-like superfamily |
| Homologous_superfamily | IPR036388 | Winged helix-like DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Paired-box protein 2 C-terminal | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M6Z787
|
368 | ||||||
|
UniProtKB:A0A8M9PZA2
|
431 | ||||||
|
UniProtKB:F1Q9Q9
|
448 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available