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
phenotypes
- abnormal optic disk morphology
- abnormal tooth morphology
- corneal opacity
- enlarged heart
- increased exploration in new environment
- increased grip strength
- irregularly shaped pupil
- prenatal lethality
- preweaning lethality complete penetrance
- small testis
- abnormal Rathke's pouch apoptosis
- abnormal Rathke's pouch development
- abnormal adenohypophysis development
- abnormal adenohypophysis morphology
- abnormal aorta morphology
- abnormal aortic arch morphology
- abnormal atrioventricular cushion morphology
- abnormal atrioventricular valve morphology
- abnormal azygos vein morphology
- abnormal cardiac outflow tract development
- abnormal cell migration
- abnormal cone electrophysiology
- abnormal cornea morphology
- abnormal developmental patterning
- abnormal digestive system development
- abnormal duodenum morphology
- abnormal embryo development
- abnormal embryo turning
- abnormal embryonic tissue morphology
- abnormal enamel morphology
- abnormal extraocular muscle morphology
- abnormal eye anterior chamber morphology
- abnormal eye development
- abnormal eye distance/ position
- abnormal eye electrophysiology
- abnormal eye morphology
- abnormal eye muscle development
- abnormal eye muscle morphology
- abnormal facial muscle morphology
- abnormal fetal atrioventricular canal morphology
- abnormal grip strength
- abnormal heart and great artery attachment
- abnormal heart atrium morphology
- abnormal heart development
- abnormal heart morphology
- abnormal heart position or orientation
- abnormal hepatic portal vein morphology
- abnormal interatrial septum morphology
- abnormal interventricular septum morphology
- abnormal intestine morphology
- abnormal iris pigmentation
- abnormal left-right axis patterning
- abnormal lens development
- abnormal lens morphology
- abnormal liver morphology
- abnormal mandible morphology
- abnormal maxilla morphology
- abnormal mesoderm development
- abnormal molar morphology
- abnormal nervous system tract morphology
- abnormal neuron differentiation
- abnormal neuronal migration
- abnormal optic fissure closure
- abnormal pancreas morphology
- abnormal periorbital region morphology
- abnormal pharyngeal arch artery morphology
- abnormal pituitary gland development
- abnormal placement of pupils
- abnormal pupil morphology
- abnormal retinal layer morphology
- abnormal rib development
- abnormal rod electrophysiology
- abnormal sixth pharyngeal arch artery morphology
- abnormal spleen morphology
- abnormal stomach position or orientation
- abnormal superior vena cava morphology
- abnormal thoracic cage morphology
- abnormal truncus arteriosus septation
- abnormal vein morphology
- abnormal vena cava morphology
- abnormal ventral body wall morphology
- absent corneal endothelium
- absent coronary sinus
- absent extraocular muscles
- absent gonadotrophs
- adenohypophysis hypoplasia
- anisocoria
- anomalous pulmonary venous connection
- anterior iris synechia
- arrest of tooth development
- atrial fibrillation
- atrial septal defect
- atrioventricular septal defect
- axial mesoderm hypoplasia
- cataract
- cleft palate
- common atrioventricular valve
- common atrium
- cyanosis
- decreased b wave amplitude
- decreased body size
- decreased embryo size
- decreased follicle stimulating hormone level
- decreased luteinizing hormone level
- decreased somatotroph cell number
- decreased thyrotroph cell number
- decreased total retina thickness
- delayed optic fissure closure
- dextrocardia
- double aortic arch
- double outlet right ventricle
- double outlet right ventricle with atrioventricular septal defect
- embryonic lethality during organogenesis incomplete penetrance
- embryonic lethality complete penetrance
- enlarged eye anterior chamber
- enlarged heart left atrium
- enophthalmos
- exencephaly
- failure of atrioventricular cushion closure
- heart right ventricle hypoplasia
- incomplete embryo turning
- increased corneal epithelium thickness
- irregular heartbeat
- lethality throughout fetal growth and development complete penetrance
- lethality throughout fetal growth and development incomplete penetrance
- lordosis
- macrophthalmia
- malocclusion
- microphthalmia
- misaligned incisors
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- ocular hypertension
- omphalocele
- optic nerve cupping
- pituitary gland hypoplasia
- postnatal lethality incomplete penetrance
- prolonged QRS complex duration
- right aortic arch
- right atrial isomerism
- right pulmonary isomerism
- situs inversus
- small Meckel's cartilage
- small Rathke's pouch
- small spleen
- splayed ribs
- spleen hypoplasia
- thoracoabdominoschisis
- transposition of great arteries
- ventricular hypoplasia
- ventricular septal defect
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