full name
paired box 3

synonyms
CDHS, HUP2, WS1, WS3, PAX3, ENSG00000135903

HGNC
HGNC:8617

Entrez Gene
Gene:5077

ENSEMBL
ENSG00000135903

location
chr: 2
start: 223064606
stop: 223163715
strand: -

OMIM
OMIM:606597: PAX3 (Autosomal dominant inheritance)
OMIM:122880: Craniofacial-deafness-hand syndrome
OMIM:268220: Rhabdomyosarcoma 2, alveolar
OMIM:193500: Waardenburg syndrome, type 1
OMIM:148820: Waardenburg syndrome, type 3

transcripts
NM_001127366.2
NM_181460.3
NM_181461.3
NM_181459.3
NM_181458.3
NM_181457.3
NM_013942.4
NM_000438.5

pathways
Chromatin modifying enzymes [NCBI:1270434] [REACTOME:R-HSA-3247509]
Chromatin organization [NCBI:1270433] [REACTOME:R-HSA-4839726] [PUBMED:21342762] [PUBMED:15598472]
HATs acetylate histones [NCBI:1270435] [REACTOME:R-HSA-3214847] [PUBMED:18722564]
Regulation of retinoblastoma protein [NCBI:137916] [Pathway Interaction Database:rb_1pathway] [PUBMED:15469821] [PUBMED:11470869] [PUBMED:8493578] [PUBMED:7596417] [PUBMED:8449399] [PUBMED:9468140] [PUBMED:11596110] [PUBMED:9545246] [PUBMED:16360038] [PUBMED:14673169] [PUBMED:17991896] [PUBMED:8805225] [PUBMED:7926730] [PUBMED:10322110] [PUBMED:11533237] [PUBMED:1828393] [PUBMED:8657117] [PUBMED:9491888] [PUBMED:7877691] [PUBMED:14729964] [PUBMED:1710781] [PUBMED:10778858] [PUBMED:11566021] [PUBMED:8246996] [PUBMED:12450794] [PUBMED:16374512] [PUBMED:10783144] [PUBMED:15949438] [PUBMED:9468139] [PUBMED:8242749] [PUBMED:9464541] [PUBMED:1531329] [PUBMED:9819434] [PUBMED:12479814] [PUBMED:10888886] [PUBMED:10597288] [PUBMED:8626527] [PUBMED:7629134] [PUBMED:11545733] [PUBMED:17620057] [PUBMED:11433299] [PUBMED:9858607] [PUBMED:15716956] [PUBMED:10490602] [PUBMED:1828392] [PUBMED:15577944] [PUBMED:11484059] [PUBMED:11583618] [PUBMED:10499802]
Transcriptional misregulation in cancer [NCBI:523016] [KEGG:hsa05202] [PUBMED:17327229] [PUBMED:20190806] [PUBMED:20145147] [PUBMED:11313274] [PUBMED:11863357] [PUBMED:19472090] [PUBMED:18330902] [PUBMED:19738075] [PUBMED:15024077] [PUBMED:12032780] [PUBMED:14630078] [PUBMED:21765642] [PUBMED:19564705] [PUBMED:17101797] [PUBMED:15160934] [PUBMED:15688424] [PUBMED:15985538] [PUBMED:12527902] [PUBMED:12511414] [PUBMED:11607818] [PUBMED:17222504] [PUBMED:15826838] [PUBMED:21747944] [PUBMED:19406209] [PUBMED:10350329] [PUBMED:21779514] [PUBMED:18563191] [PUBMED:16946003] [PUBMED:17250957] [PUBMED:12670461] [PUBMED:12529654] [PUBMED:18855877] [PUBMED:17505060] [PUBMED:20153925] [PUBMED:20490326] [PUBMED:12130514] [PUBMED:18648544] [PUBMED:19855079] [PUBMED:10717473] [PUBMED:20478527] [PUBMED:11340171] [PUBMED:16169901] [PUBMED:14998494] [PUBMED:19233641] [PUBMED:19133982] [PUBMED:12393465] [PUBMED:19059936] [PUBMED:18172298] [PUBMED:10500199] [PUBMED:19141473] [PUBMED:10537274] [PUBMED:15156184] [PUBMED:14701735] [PUBMED:19422821] [PUBMED:21518926] [PUBMED:18850010] [PUBMED:19075677] [PUBMED:18457914] [PUBMED:12527906] [PUBMED:15644444] [PUBMED:10784387] [PUBMED:17024155] [PUBMED:19075268] [PUBMED:15826834] [PUBMED:21849159] [PUBMED:21123453] [PUBMED:20974671] [PUBMED:20863376]