Pitx3 Gene Summary [Mouse]
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in lens development in camera-type eye; nervous system development; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within locomotory behavior; neuron development; and regulation of gene expression. Located in nucleus. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and musculoskeletal system. Used to study Parkinson's disease and anterior segment dysgenesis. 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. Orthologous to human PITX3 (paired like homeodomain 3). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pitx3 |
| Official Name | paired-like homeodomain transcription factor 3 [Source:MGI Symbol;Acc:MGI:1100498] |
| Ensembl ID | ENSMUSG00000025229 |
| Bio databases IDs | |
| Aliases | paired-like homeodomain transcription factor 3 |
| Synonyms | ak, aphakia, ASGD1, ASMD, ASOD, CTPP4, CTRCT11, paired-like homeodomain 3, paired-like homeodomain transcription factor 3, PTX3 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pitx3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- OAR motif
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- posterior polar cataract type 4
- motor dysfunction
- posterior polar cataract type 11
- anterior segment mesenchymal dysgenesis
- sensorimotor impairment
- hypothyroidism
- congenital cataract
- autosomal recessive syndromic cataract 11
role in cell
- apoptosis
- expression in
- accumulation in
- density
- maturation
- development
- loss
- differentiation
- quantity
- action potential in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pitx3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of gliogenesis
- response to cocaine
- regulation of transcription, DNA-dependent
- anatomical structure morphogenesis
- lens development in camera-type eye
- lens morphogenesis in camera-type eye
- positive regulation of neuron apoptotic process
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
- midbrain development
- dopaminergic neuron differentiation
- positive regulation of transcription, DNA-dependent
- response to immobilization stress
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity