Pax3 Gene Summary [Mouse]
Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin binding activity; and transcription coregulator binding activity. Acts upstream of or within several processes, including nervous system development; regulation of somitogenesis; and regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; embryo mesenchyme; nose; and urinary system. Used to study Waardenburg syndrome; Waardenburg syndrome type 1; alveolar rhabdomyosarcoma; and neural tube defect. Human ortholog(s) of this gene implicated in Waardenburg syndrome; Waardenburg syndrome type 1; Waardenburg syndrome type 3; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Orthologous to human PAX3 (paired box 3). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pax3 |
| Official Name | paired box 3 [Source:MGI Symbol;Acc:MGI:97487] |
| Ensembl ID | ENSMUSG00000004872 |
| Bio databases IDs | |
| Aliases | paired box 3 |
| Synonyms | CDHS, HUP2, paired box 3, Sp, Splchl2, splotch, WS1, WS3 |
| 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 Pax3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Paired box protein 7
- transcription regulator
- DNA binding domain
- alpha helix
- HTH_ARSR
- octapeptide domain
- transcription activation domain
- transcription factor binding
- chromatin binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- HTH_CRP
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- 'Paired box' domain
- homeodomain
- transcription factor activity
- Paired Box domain
Pathways
Biological processes and signaling networks where the Pax3 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
- diabetes mellitus
- alveolar rhabdomyosarcoma
- Waardenburg syndrome type 1
- Waardenburg syndrome type 3
- tumorigenesis
- Waardenburg syndrome
- alopecia
- soft tissue sarcoma cancer
- cholesteatoma
- idiopathic scoliosis
phenotypes
- abnormal bony labyrinth
- abnormal brain ventricle morphology
- abnormal cardiac outflow tract development
- abnormal coat/hair pigmentation
- abnormal common carotid artery morphology
- abnormal dermomyotome development
- abnormal diaphragm development
- abnormal dorsal root ganglion morphology
- abnormal embryo morphology
- abnormal endolymphatic duct morphology
- abnormal hind foot hair pigmentation
- abnormal hindbrain morphology
- abnormal hindlimb morphology
- abnormal hypoglossal cord morphology
- abnormal interventricular septum morphology
- abnormal lateral ventricle morphology
- abnormal limb morphology
- abnormal mammary line morphology
- abnormal mammary placode morphology
- abnormal midbrain development
- abnormal muscle development
- abnormal muscle precursor cell migration
- abnormal myocardial fiber physiology
- abnormal myogenesis
- abnormal myotome development
- abnormal neural crest cell migration
- abnormal neural fold elevation formation
- abnormal neural tube morphology
- abnormal otic vesicle development
- abnormal pharyngeal arch artery morphology
- abnormal pulmonary alveolus morphology
- abnormal semicircular canal morphology
- abnormal sixth pharyngeal arch artery morphology
- abnormal skeletal muscle morphology
- abnormal somite development
- abnormal spinal cord morphology
- abnormal tail hair pigmentation
- abnormal tail morphology
- abnormal thymus lobule morphology
- abnormal thymus morphology
- abnormal thyroid gland morphology
- abnormal tongue muscle morphology
- abnormal utricle morphology
- abnormal vena cava morphology
- abnormal ventral coat pigmentation
- abnormal vestibular saccule morphology
- absent coat pigmentation
- absent dorsal root ganglion
- absent hypaxial muscle
- absent skeletal muscle
- absent skin pigmentation
- absent thyroid gland
- absent ultimobranchial body
- belly spot
- caudal rachischisis
- common truncal valve
- congestive heart failure
- curly tail
- cyanosis
- decreased body size
- decreased cell proliferation
- decreased cochlear coiling
- decreased embryo size
- decreased tail pigmentation
- decreased ventricle muscle contractility
- delayed neural tube closure
- dilated heart left ventricle
- dilated heart right ventricle
- dilated pulmonary trunk
- diluted coat color
- disorganized dorsal root ganglion
- double outlet right ventricle
- ectopic thymus
- embryonic lethality
- embryonic lethality between implantation and somite formation complete penetrance
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality during organogenesis incomplete penetrance
- embryonic lethality incomplete penetrance
- exencephaly
- failure to gastrulate
- head spot
- hypopigmentation
- incomplete rostral neuropore closure
- increased embryonic neuroepithelium apoptosis
- increased mitotic index
- kinked tail
- lethality throughout fetal growth and development complete penetrance
- lethality throughout fetal growth and development incomplete penetrance
- muscular ventricular septal defect
- neonatal lethality incomplete penetrance
- no abnormal phenotype detected
- open neural tube
- patent tricuspid valve
- perinatal lethality complete penetrance
- persistent right dorsal aorta
- persistent truncus arteriosis
- postnatal lethality complete penetrance
- prenatal lethality complete penetrance
- prenatal lethality incomplete penetrance
- respiratory distress
- retroesophageal right subclavian artery
- short endolymphatic duct
- small embryonic telencephalon
- small thyroid gland
- spina bifida
- spina bifida cystica
- thick interventricular septum
- thin diaphragm muscle
- thin ventricular wall
- transverse fur striping
- variable body spotting
- variable depigmentation
- ventricular septal defect
- white spotting
role in cell
- apoptosis
- growth
- proliferation
- migration
- expression in
- binding in
- colony formation
- invasion by
- quantity
- morphology
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pax3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- sensory perception of sound
- positive regulation of transcription, DNA-dependent
- apoptotic process
- nervous system development
- anatomical structure development
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- HMG box domain binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity