V3 here soon-try beta now


Gene Search (GeneCards Home)	\|	GeneCards Guide	\|	User Feedback	\|	Terms of Use	\|	Notice about third-party sites

PAX3 Gene

protein-coding GIFtS: 68

GC02M222772

paired box 3
(Previous names: Waardenburg syndrome 1, paired box gene 3 (Waardenburg syndrome 1) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: WS1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
CDHS ^², ⁵
HUP2 ^¹, ², ³, ⁵
MGC120381 ^²
MGC120382 ^²
MGC120383 ^²
MGC120384 ^²
MGC134778 ^²
WS1 ^², ⁵

Descriptions
Waardenburg syndrome 1 ^¹
paired box 3 ^²
paired box gene 3 (Waardenburg syndrome 1) ^¹
paired box homeotic gene 3 ^²
paired domain gene 3 ^²
paired domain gene HuP2 ^²

External Ids
HGNC: 8617¹
Entrez Gene: 5077²
UniProtKB: P23760³
Ensembl: ENSG00000135903⁷

Search outside databases for aliases for PAX3 gene

Previous GC identifers: GC02M221089 GC02M221788 GC02M223029 GC02M223267 GC02M222890

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for PAX3:

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX

family typically contain a paired box domain and a paired-type homeodomain. These genes play

critical roles during fetal development. Mutations in paired box gene 3 are associated with

Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The

translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a

frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts

encoding isoforms with different C-termini. [provided by RefSeq]

UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760

Function: Probable transcription factor associated with development of alveolar rhabdomyosarcoma

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the PAX3 gene

Entrez Gene cytogenetic band: 2q35-q37|2q35 Ensembl cytogenetic band: 2q36.1 HGNC cytogenetic band: 2q36.1

PAX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M222772: (about GC identifiers)

Start:	222,772,851 bp from pter
End:	222,871,944 bp from pter
Size:	99,094 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000002.10 NT_005403.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760 (See protein sequence)

Recommended Name: Paired box protein Pax-3

Size: 479 amino acids; 52968 Da

Subunit: Can bind to DNA as a heterodimer with PAX7. Interacts with DAXX

Subcellular location: Nucleus

PDB structures from and Proteopedia :

3CMY (3D)

Secondary accessions: Q16448

Alternative splicing: 3 isoforms: P23760-1 P23760-2 P23760-3

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (8 alternative transcripts):

NP_000429.2 NP_001120838.1 NP_039230.1 NP_852122.1 NP_852123.1 NP_852124.1 NP_852125.1 NP_852126.1

ENSEMBL proteins:

ENSP00000343052 ENSP00000338767 ENSP00000342092 ENSP00000375922 ENSP00000375921 ENSP00000386750

ENSP00000258387 ENSP00000386817

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (PAX3)
	Human Recombinant Proteins from Abnova (PAX3)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

About this table

Antibodies for PAX3:

	Invitrogen Antibodies for PAX3
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for PAX3
	R&D Systems Antibodies for PAX3
	Antibodies from Abcam (PAX3), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (PAX3)
	Novus Biologicals Antibodies for PAX3

Assays for PAX3:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P23760

ProtoNet protein and cluster: P23760

1 Blocks protein family: IPB001523 Paired box protein

UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760

Similarity: Belongs to the paired homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

Similarity: Contains 1 paired domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PAX3)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_001127366

Applied Biosystems Silencer® siRNAs for PAX3

Sigma-Aldrich siRNA for PAX3

Sigma-Aldrich shRNA for PAX3

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for PAX3
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 8): NM_000438
Myc/DDK tagged cDNA clones in CMV expression vector (see all 8): NM_000438
untagged cDNA clones in CMV expression vector (see all 8): NM_000438

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_181459

UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760

Function: Probable transcription factor associated with development of alveolar rhabdomyosarcoma

Genatlas biochemistry entry for PAX3:

paired box (DNA binding) containing protein 3 (HuP2),with an homeo domain,mouse Pax3,splotch

homolog,involved in neurogenesis and in melanogenesis through MITF transactivation ? and other

processes (see BARMS2,WS1,WS2,WS3),interacting with HIRA,activating MYOD1 gene

15/27 MGI mutant phenotypes (inferred from 26 alleles) (MGI details for Pax3) (see all 27 ):

	behavior/neurological	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	immune system	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	transcription factor activity	TAS	9500554
GO:0005515	protein binding	IPI	11029584 17474147
GO:0043565	sequence-specific DNA binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for PAX3 (Your Favorite Gene powered by Ingenuity)

Melanocyte Development and Pigmentation Signaling

GeneDecks PAX3 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for PAX3

5/67 Interacting proteins for PAX3 (P23760^{1, 2} ENSP00000343052³) via UniProtKB, MINT, and/or STRING (see all 67 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SOX10	P56693¹, ENSP00000354130³	EBI-1167564, EBI-1167533 STRING (score=.998)
ABL1	P00519¹	EBI-1167564, EBI-375543
FYN	P06241¹	EBI-1167564, EBI-515315
GRB2	P62993¹	EBI-1167564, EBI-401755
NCK1	P16333¹	EBI-1167564, EBI-389883

About this table

5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0006366	transcription from RNA polymerase II promoter	TAS	9500554
GO:0006915	apoptosis	TAS	10871843
GO:0007275	multicellular organismal development	IEA	--
GO:0007605	sensory perception of sound	TAS	9500554

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for PAX3
2 Novoseek chemical compound relationships for PAX3 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
oligonucleotide	0.00	2	11590174 (1), 10063718 (1)
tyrosine	0.00	2	10508520 (1), 18573711 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PAX3)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_001127366

Sigma-Aldrich siRNA for PAX3

Sigma-Aldrich shRNA for PAX3

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000438 NM_001127366 NM_013942 NM_181457 NM_181458 NM_181459 NM_181460 NM_181461

REFSEQ mRNAs for PAX3 gene (8 alternative transcripts):

NM_000438.4 NM_001127366.1 NM_013942.3 NM_181457.2 NM_181458.2 NM_181459.2 NM_181460.2 NM_181461.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000438 NM_001127366 NM_013942 NM_181457 NM_181458 NM_181459 NM_181460 NM_181461

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 8): NM_000438
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 8): NM_000438
                                 untagged cDNA clones in CMV expression vector (see all 8): NM_000438

Additional cDNA sequence:

AK291278.1 AY251279.1 AY251280.1 BC063547.1 BC101299.3 BC101300.2 BC101301.2 BC101302.2

BC114363.2 L07483.1 S69369.1 S69370.1 U02309.1

7 DOTS entries:

DT.452351 DT.100754940 DT.308173 DT.92454308 DT.100754939 DT.121028236 DT.100754941

24/56 AceView cDNA sequences (see all 56 ):

NM_181460 NM_000438 N27673 N71677 NM_013942 AI382891 NM_181457 NM_181461

AI379568 AI082656 CA389778 NM_181459 NM_181458 BX108282 BG739787 BI829617

S69370 AI805971 U02309 AI804068 H97691 AI332917 S69369 AA258758

highest scoring ESTs for PAX3:

S69369 S69370 AU127982 AY251279 AY251280 BC063547 BG739787 N99648 U02309 AA194167

Unigene Cluster for PAX3:

Paired box 3

Hs.42146 [show with all ESTs]

Unigene Representative Sequence: NM_181458

GeneLoc Exon Structure

8 Ensembl transcripts including schematic representations:

ENST00000350526 ENST00000336840 ENST00000344493 ENST00000392070 ENST00000392069 ENST00000409551

ENST00000258387 ENST00000409828

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

PAX3 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for PAX3

¹ / ² / ³

13 probe-sets matching PAX3 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
45189_at²^{, 3}	U95-B	1	1.00	1.00	0.94	0.95	AA194167	0.60	1.00	0.82	1
61426_at²^{, 3}	U95-C	1	1.00	1.00	0.68	0.72	N99648	0.80	1.00	0.91	1
38900_at²^{, 3}	U95-A	1	1.00	1.00	0.65	1.48	U02309	0.80	1.00	0.91	1
1344_at²^{, 3}	U95-A	1	1.00	1.00	0.11	0.52	S69369	1.00	1.00	1.00	1
1345_s_at²^{, 3}	U95-A	6	1.00	0.92	0.16	0.36	S69370	1.00	1.00	1.00	1
207679_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000438	0.60	1.00	0.82	1
231666_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AA194168	0.60	1.00	0.82	1
216059_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U02309	0.80	1.00	0.91	1
207680_x_at²^{, 3}	U133-A	2	1.00	0.95	--	--	NM_013942	0.60	1.00	0.82	1
207679_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
231666_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216059_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
207680_x_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TAAAAAGTGC

SOURCE GeneReport for Unigene cluster: Hs.42146
Expression variation in blood from EXPOLDB for PAX3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PAX3 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PAX3¹	--	paired box 3	91.32(n) 98.47(a)	488544 XM_545664.2 XP_545664.2
chimpanzee (Pan troglodytes)	PAX3¹	--	paired box 3	99.74(n) 100(a)	459971 XM_001165390.1 XP_001165390.1
cow (Bos taurus)	PAX3¹	--	paired box 3	93.69(n) 99.23(a)	540951 XM_871932.2 XP_877025.2
rat (Rattus norvegicus)	Pax3¹	--	paired box 3	90.55(n) 98.29(a)	114502 XM_343601.3 XP_343602.3
mouse (Mus musculus)	Pax3^{1, 5}	1 (44.00 cM)⁵	paired box gene 3^{1, 5}	91.7(n)¹ 98.52(a)¹	18505¹ NM_008781.3¹ NP_032807.2¹ AK012493⁵ AK014337⁵ (see all 19)

About this table Species with no ortholog for PAX3

ENSEMBL Gene Tree for PAX3

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PAX3 gene

PAX7² PAX6² PAX4²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/691 NCBI SNPs in PAX3 are shown (see all 691 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 241)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs12620338^1,2	C,F,H	222773012(+)	`AATTCG/AGTACT`	5	--	ut3¹ ese³		16	EU EA WA NA NS	1122
	rs3731858^1,2	C,F,H	222774114(-)	`TTAAGG/CCAATG`	5	--	ut3¹ ese³		18	EA EU WA NS	2888
	rs2276630^1,2	C,F,H	222866283(-)	`TGAACC/TAGGAA`	7	--	int¹ ng5¹		21	EA NA EU WA NS	3064
	rs28945096^1,2	C,F	222866629(-)	`CCACAT/CTGGCT`	7	--	int¹ ut3¹		7	NA NS	336
	rs2234675^1,2	C,F	222794199(-)	`GCCCAC/AATCTA`	6	K/T	mis¹		9	EU EA WA NS	600
--	rs45466693^1,2	F	222866401(-)	`AAAAAA/-TCTCC`	7	--	int¹ ng5¹		5	NS	186
--	rs45604842^1,2	F	222773020(-)	`CTAGAC/TATAGT`	5	--	ut3¹		5	NS	170
--	rs45533737^1,2	F	222866252(-)	`CGGCAG/AGGGGG`	7	--	int¹ ng5¹		5	NS	188
	rs28945095^1,2	F	222866696(-)	`AGTTTC/TCTCGC`	7	S/F	mis¹ int¹ ut3¹ ese³		1	NA	57
--	rs45624434^1,2	F	222774687(-)	`TGAGAC/TGTGAA`	5	--	int¹ ut3¹		5	NS	170

About this table

HapMap Linkage Disequilibrium images for PAX3 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 606597 disorders: 193500 148820 268220 122880

UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760

Defects in PAX3 are the cause of Waardenburg syndrome type 1 (WS1) [MIM:193500]. WS1 is an

autosomal dominant disorder characterized by wide bridge of nose owing to lateral displacement of

the inner canthus of each eye (dystopia canthorum), pigmentary disturbances such as frontal white

blaze of hair, heterochromia of irides, white eyelashes, leukoderma and sensorineural deafness.

The syndrome shows variable clinical expression and some affected individuals do not manifest

hearing impairment

Defects in PAX3 are the cause of Waardenburg syndrome type 3 (WS3) [MIM:148820]; also

known as Klein-Waardenburg syndrome or Waardenburg syndrome with upper limb anomalies or white

forelock with malformations. WS3 is a very rare autosomal dominant disorder, which shares many of

the characteristics of WS1. Patients additionally present with musculoskeletal abnormalities

Defects in PAX3 are the cause of craniofacial-deafness-hand syndrome (CDHS) [MIM:122880].

CDHS is thought to be an autosomal dominant disease which comprises absence or hypoplasia of the

nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the

wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound

sensory-neural deafness

A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma 2 (RMS2)

[MIM:268220]; also known as alveolar rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1.

The resulting protein is a transcriptional activator

A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation

t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of

PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator.

Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all

malignancies in children

10/33 Novoseek disease relationships for PAX3 gene (see all 33 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
waardenburgs syndrome	97.13	57	7897628 (2), 9302254 (2), 10982026 (2), 10521655 (2) (see all 45)
rhabdomyosarcoma alveolar	94.55	36	9973247 (2), 8098985 (2), 11171995 (2), 8275086 (1) (see all 29)
waardenburg syndrome, type i	94.44	13	10779847 (2), 8486353 (2), 8533800 (1), 17254487 (1) (see all 9)
craniofacial-deafness-hand syndrome	93.43	4	18627422 (1), 8664898 (1), 10521655 (1), 18553554 (1)
klein-waardenburg syndrome	91.67	1	11683776 (1)
muscle cancer	83.86	1	16140913 (1)
rhabdomyosarcoma	80.16	22	15602708 (4), 9546061 (2), 15688409 (2), 17350164 (2) (see all 13)
rhabdomyosarcoma embryonal	78.33	7	19215790 (2), 10554014 (1), 12647804 (1), 15602708 (1)
musculoskeletal abnormalities	73.30	1	18553554 (1)
piebaldism	67.41	1	11041370 (1)

About this table

GeneTests: PAX3

Waardenburg Syndrome Type I

Human Gene Mutation Database: PAX3
Human Genome Epidemiology Navigator: PAX3 (3 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

High Blood Glucose Levels in Early Pregnancy May Deprive Embryo of Oxygen and Lead to Birth Defects, Joslin Diabetes Center Study Shows

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/268 PubMed articles for PAX3 gene (see all 268 ):

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (PubMed id 1347149)^{2, 3, 4} Baldwin C.T.... Milunsky A. (1992)
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. (PubMed id 8533800)^{1, 3, 4} Baldwin C.T.... Milunsky A. (1995)
Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. (PubMed id 7825605)^{1, 3, 4} Lalwani A.K.... Wilcox E.R. (1995)
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. (PubMed id 12949970)^{1, 3, 4} Wollnik B.... Yuksel-Apak M. (2003)
The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx. (PubMed id 10393185)^{1, 3, 4} Hollenbach A.D.... Grosveld G. (1999)
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. (PubMed id 7981674)^{1, 3, 4} Tassabehji M.... Read A.P. (1994)
Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I. (PubMed id 10779847)^{1, 3, 4} Sotirova V.N.... Sarfarazi M. (2000)
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. (PubMed id 9541113)^{1, 3, 4} Carey M.L.... Innis J.W. (1998)
Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues. (PubMed id 7545913)^{1, 3, 4} Tsukamoto K.... Niikawa N. (1994)
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. (PubMed id 8490648)^{1, 3, 4} Tassabehji M....Strachan T. (1993)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 5077	HGNC: 8617	AceView: PAX3	Ensembl:ENSG00000135903	euGenes: HUgn5077
ECgene: PAX3	H-InvDB: PAX3

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for PAX3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=PAX3

Licensable Technologies for PAX3
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for PAX3:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for PAX3-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for PAX3		Antibodies for PAX3
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for PAX3		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (PAX3)
	Antibodies (PAX3)
	Chimera RNAi (PAX3)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (PAX3)
	Antibodies (PAX3)

Search OriGene for PAX3

Search Tocris compounds for PAX3

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for PAX3

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
PAX3 Gene at Home site.
Version 2.41.1
server5.xennexinc.com

PAX3 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for PAX3

Summaries
for PAX3

Genomic Location
for PAX3

Proteins
for PAX3

Protein Domains/
Families
for PAX3

Gene Function
for PAX3

Pathways & Interactions
for PAX3

Drugs & Compounds
for PAX3

Transcripts
for PAX3

Expression
for PAX3

Orthologs
for PAX3

Paralogs
for PAX3

SNPs/Variants
for PAX3

Disorders & Mutations
for PAX3

Medical News
for PAX3

Publications
for PAX3

Search for PAX3

Genome Databases showing PAX3

Other Databases showing PAX3

Specialized Databases showing PAX3

Licensable Technologies
for PAX3

Services
for PAX3

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PAX3 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor PAX3

Summariesfor PAX3

Genomic Locationfor PAX3

Proteinsfor PAX3

Protein Domains/Familiesfor PAX3

Gene Functionfor PAX3

Pathways & Interactionsfor PAX3

Drugs & Compoundsfor PAX3

Transcriptsfor PAX3

Expression for PAX3

Orthologsfor PAX3

Paralogsfor PAX3

SNPs/Variantsfor PAX3

Disorders & Mutationsfor PAX3

Medical Newsfor PAX3

Publicationsfor PAX3

Search for PAX3

Genome Databases showing PAX3

Other Databases showing PAX3

Specialized Databases showing PAX3

Licensable Technologiesfor PAX3

Servicesfor PAX3

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for PAX3

Summaries
for PAX3

Genomic Location
for PAX3

Proteins
for PAX3

Protein Domains/
Families
for PAX3

Gene Function
for PAX3

Pathways & Interactions
for PAX3

Drugs & Compounds
for PAX3

Transcripts
for PAX3

Expression
for PAX3

Orthologs
for PAX3

Paralogs
for PAX3

SNPs/Variants
for PAX3

Disorders & Mutations
for PAX3

Medical News
for PAX3

Publications
for PAX3

Licensable Technologies
for PAX3

Services
for PAX3