PAX3

PAX3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3CMY
Identifiers
Aliases	PAX3, CDHS, HUP2, WS1, WS3, Pax3, paired box 3
External IDs	OMIM: 606597 MGI: 97487 HomoloGene: 22494 GeneCards: PAX3
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • HMG box domain binding • DNA binding • protein binding • sequence-specific DNA binding Cellular component • nucleus • nucleoplasm Biological process • animal organ morphogenesis • positive regulation of transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter • multicellular organism development • muscle organ development • regulation of transcription, DNA-templated • transcription from RNA polymerase II promoter • sensory perception of sound • transcription, DNA-templated • nervous system development • positive regulation of transcription from RNA polymerase II promoter • neural crest formation • apoptotic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5077	18505
Ensembl	ENSG00000135903	ENSMUSG00000004872
UniProt	P23760	P24610
RefSeq (mRNA)	NM_000438 NM_001127366 NM_013942 NM_181457 NM_181458 NM_181459 NM_181460 NM_181461	NM_001159520 NM_008781
RefSeq (protein)	NP_000429 NP_001120838 NP_039230 NP_852122 NP_852123 NP_852124 NP_852125 NP_852126 NP_852122.1	NP_001152992.1 NP_032807.3 NP_001152992 NP_032807
Location (UCSC)	Chr 2: 222.2 – 222.3 Mb	Chr 1: 78.1 – 78.2 Mb
PubMed search

3CMY

5077

18505

ENSG00000135903

ENSMUSG00000004872

P23760

P24610

NM_181459
NM_181460
NM_181461

NM_001159520
NM_008781

NP_852124
NP_852125
NP_852126
NP_852122.1

NP_001152992.1
NP_032807.3
NP_001152992
NP_032807

PAX3 is a gene that belongs to the paired box (PAX) family of transcription factors. This gene was formerly known as splotch. PAX3 has been identified with ear, eye and facial development. Mutations in it can cause Waardenburg syndrome types 1 and 3 . It is expressed in early embryonic phases in dermatomyotome of paraxial mesoderm which it helps to demarcate. In that way PAX3 contributes to early striated muscle development since all myoblasts are derived from dermatomyotome of paraxial mesoderm.

...
Wikipedia