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
phenotypes
- abnormal sleep behavior
- abnormal social/conspecific interaction
- decreased body weight
- decreased circulating amylase level
- decreased circulating triglyceride level
- decreased exploration in new environment
- decreased total body fat amount
- decreased vertical activity
- hyperactivity
- hypoactivity
- increased body weight
- increased bone mineral content
- increased circulating alkaline phosphatase level
- increased coping response
- increased exploration in new environment
- increased fasting circulating glucose level
- increased grip strength
- increased heart rate
- shortened QT interval
- shortened ST segment
- abnormal anterior eye segment morphology
- abnormal breathing pattern
- abnormal coping response
- abnormal cornea morphology
- abnormal dorsal striatum morphology
- abnormal eye distance/ position
- abnormal eye morphology
- abnormal food intake
- abnormal grip strength
- abnormal heart rate
- abnormal immunoglobulin level
- abnormal iris pigmentation
- abnormal lens development
- abnormal locomotor behavior
- abnormal midbrain morphology
- abnormal ocular fundus morphology
- abnormal posterior eye segment morphology
- abnormal respiratory function
- abnormal response to new environment
- abnormal retina morphology
- abnormal substantia nigra pars compacta morphology
- acoria
- aphakia
- decreased IgG3 level
- decreased IgM level
- decreased anxiety-related response
- decreased blood uric acid level
- decreased body length
- decreased body size
- decreased bone mass
- decreased chemical nociceptive threshold
- decreased circulating cholesterol level
- decreased circulating iron level
- decreased dopamine level
- decreased dopaminergic neuron number
- decreased grip strength
- decreased leukocyte cell number
- decreased substantia nigra size
- decreased thermal nociceptive threshold
- decreased tidal volume
- enlarged lacrimal gland
- eyelids fail to open
- fused cornea and lens
- hepatic steatosis
- hyperresponsive to tactile stimuli
- impaired coordination
- increased CD4-positive alpha beta T cell number
- increased CD8-positive alpha-beta T cell number
- increased anxiety-related response
- increased blood uric acid level
- increased body temperature
- increased circulating phosphate level
- increased energy expenditure
- increased granulocyte number
- increased lean body mass
- increased neuron apoptosis
- increased neuron number
- increased pulmonary respiratory rate
- loss of dopaminergic neurons
- microphthalmia
- reduced fertility
- thrombocytopenia
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