Gene

pax3a

ID
ZDB-GENE-980526-52
Name
paired box 3a
Symbol
pax3a Nomenclature History
Previous Names
  • pax3 (1)
  • etID309899.2 (1)
  • zgc:92547
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in enteric nervous system development; neural crest cell migration; and xanthophore differentiation. Localizes to nucleus. Is expressed in several structures, including muscle; nervous system; neural crest; neural tube; and paraxial mesoderm. Human ortholog(s) of this gene implicated in Waardenburg syndrome type 1; Waardenburg syndrome type 3; Waardenburg's syndrome; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Orthologous to human PAX3 (paired box 3).
Genome Resources
Note
None
Expression
All Expression Data
69 figures from 43 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pax3a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
alveolar rhabdomyosarcoma Alliance Rhabdomyosarcoma 2, alveolar 268220
craniofacial-deafness-hand syndrome Alliance Craniofacial-deafness-hand syndrome 122880
Waardenburg syndrome type 1 Alliance Waardenburg syndrome, type 1 193500
Waardenburg syndrome type 3 Alliance Waardenburg syndrome, type 3 148820
Associated With pax3a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017970 Homeobox, conserved site
Domain IPR001356 Homeobox domain
Domain IPR001523 Paired domain
Domain IPR022106 Paired box protein 7, C-terminal
Domain IPR043182 Paired DNA-binding domain
Family IPR043565 PAX family
Homologous_superfamily IPR009057 Homeobox-like domain superfamily
Homologous_superfamily IPR036388 Winged helix-like DNA-binding domain superfamily
Domain Details Per Protein
Protein Length Homeobox, conserved site Homeobox domain Homeobox-like domain superfamily Paired box protein 7, C-terminal Paired DNA-binding domain Paired domain PAX family Winged helix-like DNA-binding domain superfamily
UniProtKB:O57416 509
UniProtKB:F1R7Y4 445
UniProtKB:Q6DHA7 445
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations