Aliases &
Descriptions
for PAX3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| paired box 31 2 | | MGC1203832 | | HUP21 2 3 5 | | paired box protein Pax-32 | | WS12 5 | | MGC1203842 | | CDHS2 5 | | paired box homeotic gene 32 | | WS32 5 | | MGC1347782 | | Waardenburg syndrome 11 | | MGC1203822 | | paired box gene 3 (Waardenburg syndrome 1)1 | | paired domain gene 32 | | MGC1203812 | | HuP23 | | paired domain gene HuP22 | | |
Export aliases for PAX3 gene to outside databasesPrevious GC identifers: GC02M221089 GC02M221788 GC02M223029 GC02M223267 GC02M222890 GC02M222772 |
Summaries
for PAX3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PAX3:
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typicallycontain 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, andalveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkheadgene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encodingisoforms with different C-termini. (provided by RefSeq)
UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760Function: Probable transcription factor associated with development of alveolar rhabdomyosarcoma
|
Genomic Views
for PAX3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PAX3 gene promoter:
MyoD FOXO1a E2F-5 E2F-4 E2F-3a E2F-2 E2F-1 E2F ATF6 CUTL1
Other transcription factors
Search SABiosciences Chromatin IP Primers for PAX3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PAX3  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q35-q37|2q35 Ensembl cytogenetic band: 2q36.1 HGNC cytogenetic band: 2q36.1PAX3 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 GC02M214918: view genomic region
(about GC identifiers)
Start:
|
214,918,697 bp from pter |
End:
|
215,017,780 bp from pter |
Size:
|
99,084 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr2- 223,064,607-223,163,715 |
RefSeq DNA sequence:- NC_000002.11 NT_005403.17
|
Proteins
for PAX3 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
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 Q53T90 Q6GSJ9Alternative splicing: 3 isoforms: P23760-1 P23760-2 P23760-3 Explore the universe of human proteins at neXtProt for PAX3: NX_P23760
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: ENSP00000375921 ENSP00000342092 ENSP00000343052 ENSP00000375922 ENSP00000338767 ENSP00000386750 ENSP00000386817 ENSP00000258387
Human Recombinant Proteins
1 Gene Ontology (GO) cellular component term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
About this table
PAX3 for ontologies About GeneDecksing
Antibodies for PAX3:
Assays for PAX3: |
Protein
Domains/
Families
for PAX3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PAX3 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P23760ProtoNet protein and cluster: P23760 1 Blocks protein family: IPB001523 Paired box protein
UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760Similarity: Belongs to the paired homeobox familySimilarity: Contains 1 homeobox DNA-binding domainSimilarity: Contains 1 paired domain |
Gene Function
for PAX3 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760Function: 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 inneurogenesis and in melanogenesis through MITF transactivation ? and other processes (seeBARMS2,WS1,WS2,WS3),interacting with HIRA,activating MYOD1 gene5/9 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 9): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003677 | DNA binding |
-- | -- | | GO:0003682 | chromatin binding |
-- | -- | | GO:0003700 | sequence-specific DNA binding transcription factor activity |
IEA | -- | | GO:0003705 | sequence-specific enhancer binding RNA polymerase II transcription factor activity |
-- | -- | | GO:0005515 | protein binding |
IPI | 11029584 |
About this table
PAX3 for ontologies About GeneDecksing
Animal Models: 15/27 MGI mutant phenotypes (inferred from 29 alleles ) (MGI details for Pax3) (see all 27):
PAX3 for phenotypes About GeneDecksing
|
Pathways & Interactions
for PAX3 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
PAX3 for pathways About GeneDecksing
1  Millipore Pathway for PAX3
1  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for PAX3
SABiosciences Pathway-Focused PCR Arrays including PAX3 (see all 3): PAHS-083A PAHS-099A
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PAX3
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAX3
5/9 Interacting proteins for PAX3 (P237601, 2 ENSP000003430523) via UniProtKB, MINT, and/or STRING (see all 9)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| SOX10 | P566931, ENSP000003541303 | EBI-1167564,EBI-1167533 STRING: ENSP00000354130 | | ABL1 | P005191, 2 | EBI-1167564,EBI-375543 MINT-7243666 | | FYN | P062411, 2 | EBI-1167564,EBI-515315 MINT-7246414 | | GRB2 | P629931, 2 | EBI-1167564,EBI-401755 MINT-7253794 | | NCK1 | P163331, 2 | EBI-1167564,EBI-389883 MINT-7249198 |
About this table
5/21 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 21): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter |
-- | -- | | GO:0001755 | neural crest cell migration |
-- | -- | | GO:0001843 | neural tube closure |
-- | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | | GO:0006366 | transcription from RNA polymerase II promoter |
TAS | 9500554 |
About this table
PAX3 for ontologies About GeneDecksing
|
Drugs & Compounds
for PAX3 gene(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
|
PAX3 for compounds About GeneDecksing
 Browse Tocris compounds for PAX3
6  Novoseek chemical compound relationships for PAX3 gene
About this table
|
Transcripts
for PAX3 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for PAX3 gene (8 alternative transcripts): NM_000438.5 NM_001127366.2 NM_013942.4 NM_181457.3 NM_181458.3 NM_181459.3 NM_181460.3 NM_181461.3 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): AI082656 NM_181457 N27673 N71677 AI382891 CA389778 NM_181460 BX108282 NM_013942 NM_181459 NM_181461 NM_000438 AI379568 NM_181458 N42304 N33148 L07483 N42834 AA258758 H97691 AI332917 S69370 AI804068 S69369
 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
9 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000392069(uc002vmt.1) ENST00000344493(uc002vmw.1 uc002vmx.1)
ENST00000350526(uc010fwo.2) ENST00000392070 ENST00000336840 ENST00000409551(uc002vmy.1 uc002vmv.1)
ENST00000464706 ENST00000409828(uc002vna.1) ENST00000258387(uc002vmz.1)
|
Expression
for PAX3 gene
(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 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| PAX3 expression in normal and diseased human tissues
1 / 2 / 3 13 probe-sets matching PAX3 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 45189_at2, 3
|
U95-B |
1 |
0.94 |
1.00 |
0.94 |
0.95 |
AA194167 |
0.60 |
1.00 |
0.82 |
1 |
| 1345_s_at2, 3
|
U95-A |
1 |
0.94 |
1.00 |
0.16 |
0.36 |
S69370 |
1.00 |
1.00 |
1.00 |
1 |
| 38900_at2, 3
|
U95-A |
1 |
0.88 |
1.00 |
0.65 |
1.48 |
U02309 |
0.80 |
1.00 |
0.91 |
1 |
| 61426_at2, 3
|
U95-C |
1 |
0.81 |
1.00 |
0.68 |
0.72 |
N99648 |
0.80 |
1.00 |
0.91 |
1 |
| 1344_at2, 3
|
U95-A |
1 |
0.81 |
1.00 |
0.11 |
0.52 |
S69369 |
1.00 |
1.00 |
1.00 |
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 |
1 |
1.00 |
1.00 |
-- |
-- |
NM_013942 |
0.60 |
1.00 |
0.82 |
1 |
| 231666_at2, 3
|
U133-B |
1 |
0.91 |
1.00 |
-- |
-- |
AA194168 |
0.60 |
1.00 |
0.82 |
1 |
| 207679_at2, 3
|
U133-A |
1 |
0.82 |
1.00 |
-- |
-- |
NM_000438 |
0.60 |
1.00 |
0.82 |
1 |
| 216059_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 207680_x_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 231666_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 207679_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
PAX3 for expression About GeneDecksing
Data from
Genenote
(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 SABiosciences Expression via Pathway-Focused PCR Arrays including PAX3 (see all 3): PAHS-083A PAHS-099A
|
Orthologs
for PAX3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
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)
About this table Species with no ortholog for PAX3
ENSEMBL Gene Tree for PAX3 (if available) |
Paralogs
for PAX3 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for PAX3 gene
- PAX72 PAX62 PAX42
PAX3 for paralogs About GeneDecksing
|
Genomic Variants
for PAX3 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 2 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for PAX3 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PAX3
2 CNVs: 50404 4328 | | QIAGEN SeqTarget long-range PCR primers for resequencing PAX3 |
|
Disorders & Mutations
for PAX3 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PAX3 for disorders About GeneDecksing
OMIM: 606597 disorders: 193500 148820 122880 268220 UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760
Defects in PAX3 are the cause of Waardenburg syndrome type 1 (WS1) [MIM:193500]. WS1 is an autosomal dominantdisorder characterized by wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopiacanthorum), 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 individualsdo not manifest hearing impairment Defects in PAX3 are the cause of Waardenburg syndrome type 3 (WS3) [MIM:148820]; also known asKlein-Waardenburg syndrome or Waardenburg syndrome with upper limb anomalies or white forelock with malformations. WS3is a very rare autosomal dominant disorder, which shares many of the characteristics of WS1. Patients additionallypresent with musculoskeletal abnormalities Defects in PAX3 are the cause of craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]. CDHS is thought tobe an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, smalland short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of thefingers, hypertelorism and profound sensory-neural deafness Defects in PAX3 are a cause of rhabdomyosarcoma type 2 (RMS2) [MIM:268220]. It is a form of rhabdomyosarcoma,a highly malignant tumor of striated muscle derived from primitive mesenchimal cells and exhibiting differentiationalong rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and themost common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.Note=A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1.The resulting protein is a transcriptional activator Note=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 ofNCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissuecarcinoma in childhood, representing 5-8% of all malignancies in children
10/33 Novoseek disease relationships for PAX3 gene (see all 33)
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| waardenburgs syndrome |
97.1 |
59 |
7897628 (2), 9302254 (2), 10982026 (2), 10521655 (2) (see all 47) |
| waardenburg syndrome, type i |
94.8 |
14 |
10779847 (2), 8486353 (2), 8533800 (1), 17254487 (1) (see all 10) |
| rhabdomyosarcoma alveolar |
94.5 |
37 |
9973247 (2), 8098985 (2), 11171995 (2), 8275086 (1) (see all 30) |
| craniofacial-deafness-hand syndrome |
93.1 |
4 |
18627422 (1), 8664898 (1), 10521655 (1), 18553554 (1) |
| klein-waardenburg syndrome |
91.3 |
1 |
11683776 (1) |
| muscle cancer |
86.1 |
1 |
16140913 (1) |
| rhabdomyosarcoma embryonal |
80.5 |
8 |
19215790 (2), 10554014 (1), 19953635 (1), 12647804 (1) (see all 5) |
| rhabdomyosarcoma |
79.4 |
24 |
15602708 (4), 9546061 (2), 15688409 (2), 17350164 (2) (see all 14) |
| musculoskeletal abnormalities |
74.9 |
1 |
18553554 (1) |
| piebaldism |
66 |
1 |
11041370 (1) |
About this table
GeneTests: PAX3
Waardenburg Syndrome Type I
Locus Specific Mutation Databases (LSDB): PAX3
Human Gene Mutation Database (HGMD): PAX3
Human Genome Epidemiology (HuGE) Navigator: PAX3 (8 documents)
Export disorders and mutations for PAX3 gene to outside databases
|
Medical News
for PAX3 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications
for PAX3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/310 PubMed articles for PAX3 gene, integrated from 7 sources (see all 310):
(articles sorted by number of sources associating them with PAX3)- An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (PubMed id 1347149)1, 2, 3 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, 2, 7 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, 2, 7 Lalwani A.K.... Wilcox E.R. (1995)
- Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. (PubMed id 12949970)1, 2, 7 Wollnik B.... Yuksel-Apak M. (2003)
- The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx. (PubMed id 10393185)1, 2, 7 Hollenbach A.D.... Grosveld G. (1999)
- PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. (PubMed id 7981674)1, 2, 7 Tassabehji M.... Read A.P. (1994)
- 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, 2, 7 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, 2, 7 Tsukamoto K.... Niikawa N. (1994)
- Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. (PubMed id 8490648)1, 2, 7 Tassabehji M....Strachan T. (1993)
- Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I. (PubMed id 10779847)1, 2, 7 Sotirova V.N.... Sarfarazi M. (2000)
|
External Searches for PAX3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing PAX3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PAX3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PAX3 gene(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
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About This Section
| Patent Information for PAX3 gene:
Search GeneIP for patents involving PAX3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for PAX3 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
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| |  | Search Tocris compounds for PAX3 |
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 | | | ELISAs and CLIAs for PAX3 |
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