Gene
pax4
- ID
- ZDB-GENE-041210-244
- Name
- paired box 4
- Symbol
- pax4 Nomenclature History
- Previous Names
-
- DKEY-146J3.4 (1)
- si:dkey-146j3.3
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to have sequence-specific DNA binding activity. Involved in endocrine pancreas development; glucose homeostasis; and pancreas regeneration. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in diabetic ketoacidosis; maturity-onset diabetes of the young type 9; type 1 diabetes mellitus; and type 2 diabetes mellitus. Is expressed in endocrine system and stomodeum. Orthologous to human PAX4 (paired box 4).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 14 figures from 7 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 |
---|---|---|---|
diabetic ketoacidosis | Alliance | {Diabetes mellitus, ketosis-prone, susceptibility to} | 612227 |
maturity-onset diabetes of the young type 9 | Alliance | Maturity-onset diabetes of the young, type IX | 612225 |
type 2 diabetes mellitus | Alliance | Diabetes mellitus, type 2 | 125853 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR017970 | Homeobox, conserved site |
Domain | IPR001356 | Homeodomain |
Domain | IPR001523 | Paired domain |
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 | Homeobox, conserved site | Homeodomain | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
---|---|---|---|---|---|---|---|---|
UniProtKB:G2ZGB0
|
360 | |||||||
UniProtKB:A0A8M9PHB0
|
227 |
Interactions and Pathways
No data available
Plasmids
No data available