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, PAX-3
External IDs	OMIM: 606597; MGI: 97487; HomoloGene: 22494; GeneCards: PAX3; OMA:PAX3 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q36.1 Start 222,199,887 bp[1] End 222,298,998 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 C4|1 39.79 cM Start 78,077,904 bp[2] End 78,173,771 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in olfactory zone of nasal mucosa testicle muscle of thigh minor salivary glands skin of thigh Achilles tendon gastrocnemius muscle deltoid muscle skin of abdomen right hemisphere of cerebellum Top expressed in pelvic ganglion maxillary prominence tail of embryo pretectal area female urethra pineal gland neural groove iris neural fold lower lip More reference expression data BioGPS More reference expression data
Gene ontology Molecular function HMG box domain binding DNA binding protein binding sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm Biological process animal organ morphogenesis positive regulation of transcription, DNA-templated multicellular organism development muscle organ development regulation of transcription, DNA-templated transcription by RNA polymerase II hearing transcription, DNA-templated nervous system development positive regulation of transcription by RNA polymerase II apoptotic process Sources:Amigo / QuickGO
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 NP_032807 Location (UCSC) Chr 2: 222.2 – 222.3 Mb Chr 1: 78.08 – 78.17 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

The PAX3 (paired box gene 3) gene encodes a member of the paired box or PAX family of transcription factors.^[5] The PAX family consists of nine human (PAX1-PAX9) and nine mouse (Pax1-Pax9) members arranged into four subfamilies. Human PAX3 and mouse Pax3 are present in a subfamily along with the highly homologous human PAX7 and mouse Pax7 genes. The human PAX3 gene is located in the 2q36.1 chromosomal region, and contains 10 exons within a 100 kb region.