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 enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within anterior/posterior pattern specification involved in pronephros development; otic placode formation; and peripheral nervous system development. Predicted to be located in nucleus. Is expressed in several structures, including endocrine system; mesoderm; nervous system; neurogenic field; and pronephros. Human ortholog(s) of this gene implicated in congenital hypothyroidism and congenital nongoitrous hypothyroidism 2. 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