Gene

pax3b

ID
ZDB-GENE-080917-53
Name
paired box 3b
Symbol
pax3b Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 15 Mapping Details/Browsers
Description
Predicted to have sequence-specific DNA binding activity. Involved in branchiomeric skeletal muscle development. Predicted to localize to nucleus. Is expressed in several structures, including dermomyotome; hindbrain neural keel; midbrain neural rod; neural crest; and trunk. Human ortholog(s) of this gene implicated in 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
4 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Minchin et al., 2013
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pax3b 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 pax3b 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
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 domain PAX family Winged helix-like DNA-binding domain superfamily
UniProtKB:C0M006 286
UniProtKB:F1Q9S0 469
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations