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 NCBI: 18505 Ensembl: ENSMUSG00000004872
Aliases paired box 3
Synonyms CDHS, HUP2, paired box 3, Sp, Splchl2, splotch, WS1, WS3
Species
Mouse, Mus musculus
OrthologiesHumanRat

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
regulated by
regulates
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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.