Gene
pitx3
- ID
- ZDB-GENE-041229-4
- Name
- paired-like homeodomain 3
- Symbol
- pitx3 Nomenclature History
- Previous Names
-
- zgc:109716
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and RNA polymerase II transcription factor binding activity. Involved in adenohypophysis development; lens fiber cell differentiation; and positive regulation of transcription, DNA-templated. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in anterior segment dysgenesis; anterior segment dysgenesis 1; cataract; cataract 11 multiple types; and cataract 9 multiple types. Is expressed in several structures, including ectoderm; head; immature eye; nervous system; and neurogenic field. Orthologous to human PITX3 (paired like homeodomain 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 63 figures from 36 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:109716 (14 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| anterior segment dysgenesis 1 | Alliance | Anterior segment dysgenesis 1, multiple subtypes | 107250 |
| cataract 11 multiple types | Alliance | Cataract 11, multiple types | 610623 |
| cataract 11 multiple types | Alliance | Cataract 11, syndromic, autosomal recessive | 610623 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homeobox, conserved site | Homeobox domain | Homeobox-like domain superfamily | Homeobox protein Pitx/unc30 | OAR domain |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6QU75
|
293 | |||||
|
UniProtKB:A0A8M9QJL4
|
207 | |||||
|
UniProtKB:B2GRZ8
|
293 |
Interactions and Pathways
No data available
Plasmids
No data available