Pitx2 Gene Summary [Mouse]
Enables DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin DNA binding activity; and sequence-specific DNA binding activity. Involved in several processes, including cardiac neural crest cell migration involved in outflow tract morphogenesis; deltoid tuberosity development; and left/right pattern formation. Acts upstream of or within several processes, including circulatory system development; diencephalon development; and digestive tract morphogenesis. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and musculature. Used to study Axenfeld-Rieger syndrome type 1 and glaucoma. Human ortholog(s) of this gene implicated in Arts syndrome; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1; anterior segment dysgenesis 4; and ring dermoid of cornea. Orthologous to human PITX2 (paired like homeodomain 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pitx2 |
| Official Name | paired-like homeodomain transcription factor 2 [Source:MGI Symbol;Acc:MGI:109340] |
| Ensembl ID | ENSMUSG00000028023 |
| Bio databases IDs | |
| Aliases | paired-like homeodomain transcription factor 2 |
| Synonyms | 9430085M16Rik, ARP1, ASGD4, Brx1, Brx1b, IDG2, IGDS, IGDS2, IHG2, IRID2, Munc30, Otlx2, paired-like homeodomain 2, paired-like homeodomain transcription factor 2, Pitx2c, PTX2, RGS, RIEG, RIEG1, RS |
| 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 Pitx2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- OAR motif
- transcription regulator
- nucleic acid binding
- phosphoprotein binding
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- ribonucleoprotein binding
- protein homodimerization
- homeodomain
- transcription factor activity
Pathways
Biological processes and signaling networks where the Pitx2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atrial fibrillation
- atrial flutter
- Axenfeld-Rieger syndrome type 1
- omphalocele
- anterior segment dysgenesis
- Axenfeld-Rieger syndrome
- microphthalmia
- right pulmonary isomerism
- double outlet right ventricle
- cataract disease
role in cell
- proliferation
- expression in
- apoptosis
- transcription in
- cell viability
- activation in
- adhesion
- binding in
- cell spreading
- quantity
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
- Cytoplasm
- nucleoplasm
- Cajal bodies
- myonuclei
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pitx2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic heart tube left/right pattern formation
- deltoid tuberosity development
- positive regulation of cell proliferation
- outflow tract morphogenesis
- spleen development
- anatomical structure morphogenesis
- odontogenesis
- cardiac neural crest cell migration involved in outflow tract morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- somatotropin secreting cell differentiation
- determination of left/right symmetry
- prolactin secreting cell differentiation
- regulation of transcription from RNA polymerase II promoter
- camera-type eye development
- iris morphogenesis
- left/right axis specification
- hair cell differentiation
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- cytoplasm
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity