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 tra... See more...

Aliases for PAX3 Gene

Aliases for PAX3 Gene

  • Paired Box 3 2 3 5
  • HUP2 2 3 4
  • Paired Box Protein Pax-3 3 4
  • Paired Box Gene 3 (Waardenburg Syndrome 1) 2
  • Transcriptional Factor PAX3 3
  • Paired Box Homeotic Gene 3 3
  • Paired Domain Gene HuP2 3
  • Waardenburg Syndrome 1 2
  • Paired Domain Gene 3 3
  • CDHS 3
  • PAX3 5
  • HuP2 4
  • WS1 3
  • WS3 3

External Ids for PAX3 Gene

Previous HGNC Symbols for PAX3 Gene

  • WS1

Previous GeneCards Identifiers for PAX3 Gene

  • GC02M221089
  • GC02M221788
  • GC02M223029
  • GC02M223267
  • GC02M222890
  • GC02M222772
  • GC02M214918
  • GC02M223064

Summaries for PAX3 Gene

Entrez Gene Summary for PAX3 Gene

  • 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, Jul 2008]

GeneCards Summary for PAX3 Gene

PAX3 (Paired Box 3) is a Protein Coding gene. Diseases associated with PAX3 include Craniofacial-Deafness-Hand Syndrome and Waardenburg Syndrome, Type 1. Among its related pathways are Chromatin organization and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is PAX7.

UniProtKB/Swiss-Prot Summary for PAX3 Gene

  • Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087).

Gene Wiki entry for PAX3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAX3 Gene

Genomics for PAX3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PAX3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J222293 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 600.7 +2.1 2052 5.9 PRDM10 KDM1A PRDM1 ZSCAN4 ZNF501 EZH2 ZNF600 SCRT2 POLR2A ZBTB20 CCDC140 PAX3 CT75 RF02543-032 EPHA4
GH02J222289 Enhancer 0.8 FANTOM5 ENCODE 11.9 +8.0 7972 3.4 KDM1A PRDM1 POLR2A EZH2 TCF7L2 OSR2 USF1 YY1 ZNF189 SIN3A PAX3 CCDC140 RF02543-032 EPHA4
GH02J222318 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 0.4 -20.5 -20537 3.9 PRDM10 KDM1A CTCF ZNF692 BACH1 LARP7 PRDM1 ZNF143 ZIC2 POLR2A CT75 ENSG00000267034 PAX3 RF00951-080 SGPP2
GH02J222269 Enhancer 0.9 UCNEbase Ensembl ENCODE 0.3 +29.8 29792 0.4 EZH2 NANOG HLF CCDC140 PAX3 RF02543-032 EPHA4
GH02J222272 Enhancer 0.8 UCNEbase Ensembl ENCODE 0.3 +26.2 26163 0.6 EZH2 CCDC140 PAX3 RF02543-032 EPHA4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAX3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAX3

Top Transcription factor binding sites by QIAGEN in the PAX3 gene promoter:
  • AP-2alpha isoform 2
  • AP-2alphaA

Genomic Locations for PAX3 Gene

Genomic Locations for PAX3 Gene
chr2:222,199,887-222,298,998
(GRCh38/hg38)
Size:
99,112 bases
Orientation:
Minus strand
chr2:223,064,606-223,163,715
(GRCh37/hg19)
Size:
99,110 bases
Orientation:
Minus strand

Genomic View for PAX3 Gene

Genes around PAX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX3 Gene

Proteins for PAX3 Gene

  • Protein details for PAX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23760-PAX3_HUMAN
    Recommended name:
    Paired box protein Pax-3
    Protein Accession:
    P23760
    Secondary Accessions:
    • G5E9C1
    • Q16448
    • Q494Z3
    • Q494Z4
    • Q53T90
    • Q6GSJ9
    • Q86UQ2
    • Q86UQ3

    Protein attributes for PAX3 Gene

    Size:
    479 amino acids
    Molecular mass:
    52968 Da
    Quaternary structure:
    • Can bind to DNA as a homodimer or a heterodimer with PAX7. Interacts with PAXBP1; the interaction links PAX3 to a WDR5-containing histone methyltransferase complex. Interacts with DAXX. Interacts with TBX18. Interacts with SOX10 (PubMed:21965087).

    Three dimensional structures from OCA and Proteopedia for PAX3 Gene

    Alternative splice isoforms for PAX3 Gene

neXtProt entry for PAX3 Gene

Post-translational modifications for PAX3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PAX3

No data available for DME Specific Peptides for PAX3 Gene

Domains & Families for PAX3 Gene

Gene Families for PAX3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PAX3 Gene

InterPro:
Blocks:
  • Paired box protein, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for PAX3 Gene

GenScript: Design optimal peptide antigens:
  • HuP2 (PAX3_HUMAN)
  • cDNA FLJ77133, highly similar to Homo sapiens paired box gene 3 (Waardenburg syndrome 1) (PAX3), transcript variant PAX3D, mRNA (Q494Z3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23760

UniProtKB/Swiss-Prot:

PAX3_HUMAN :
  • Belongs to the paired homeobox family.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PAX3: view

Function for PAX3 Gene

Molecular function for PAX3 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087).
GENATLAS Biochemistry:
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

Phenotypes From GWAS Catalog for PAX3 Gene

Gene Ontology (GO) - Molecular Function for PAX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 9500554
GO:0005515 protein binding IPI 11029584
GO:0043565 sequence-specific DNA binding IDA 11863357
genes like me logo Genes that share ontologies with PAX3: view
genes like me logo Genes that share phenotypes with PAX3: view

Human Phenotype Ontology for PAX3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAX3 Gene

MGI Knock Outs for PAX3:
  • Pax3 Pax3<tm1Buck>
  • Pax3 Pax3<tm4Buck>
  • Pax3 Pax3<tm6.1(Pax8)Buck>
  • Pax3 Pax3<tm6.2Buck>
  • Pax3 Pax3<tm6(Pax8)Buck>
  • Pax3 Pax3<tm1.2Sjc>
  • Pax3 Pax3<tm1.1(cre/ERT2)Lepr>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAX3

Clone Products

  • Addgene plasmids for PAX3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PAX3 Gene

Localization for PAX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAX3 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PAX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with PAX3: view

Pathways & Interactions for PAX3 Gene

genes like me logo Genes that share pathways with PAX3: view

Pathways by source for PAX3 Gene

1 R&D Systems pathway for PAX3 Gene
1 Qiagen pathway for PAX3 Gene
  • Melanocyte Development and Pigmentation
1 Cell Signaling Technology pathway for PAX3 Gene

SIGNOR curated interactions for PAX3 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PAX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS 9500554
GO:0006915 apoptotic process TAS 10871843
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with PAX3: view

Drugs & Compounds for PAX3 Gene

(4) Drugs for PAX3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PAX3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PAX3: view

Transcripts for PAX3 Gene

mRNA/cDNA for PAX3 Gene

8 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAX3

Clone Products

  • Addgene plasmids for PAX3

Alternative Splicing Database (ASD) splice patterns (SP) for PAX3 Gene

No ASD Table

Relevant External Links for PAX3 Gene

GeneLoc Exon Structure for
PAX3

Expression for PAX3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAX3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAX3 Gene

This gene is overexpressed in Minor Salivary Gland (x12.3), Brain - Cerebellum (x6.8), and Muscle - Skeletal (x4.0).

Protein differential expression in normal tissues from HIPED for PAX3 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAX3 Gene



Protein tissue co-expression partners for PAX3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAX3

SOURCE GeneReport for Unigene cluster for PAX3 Gene:

Hs.42146

Evidence on tissue expression from TISSUES for PAX3 Gene

  • Skin(4.6)
  • Muscle(3.2)
  • Nervous system(2.9)
  • Heart(2.5)
  • Blood(2.5)
  • Kidney(2.3)
  • Bone(2.2)
  • Intestine(2.1)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PAX3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lacrimal apparatus
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • lung
  • rib
  • rib cage
  • scapula
Abdomen:
  • intestine
  • large intestine
Pelvis:
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PAX3: view

No data available for mRNA Expression by UniProt/SwissProt for PAX3 Gene

Orthologs for PAX3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PAX3 30 31
  • 99.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PAX3 31
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PAX3 31
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PAX3 30 31
  • 93.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pax3 30 17 31
  • 91.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pax3 30
  • 90.75 (n)
Dog
(Canis familiaris)
Mammalia PAX3 30 31
  • 90.64 (n)
OneToOne
Chicken
(Gallus gallus)
Aves PAX3 30 31
  • 85.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PAX3 31
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pax3 30
  • 81.34 (n)
Zebrafish
(Danio rerio)
Actinopterygii pax3a 30 31
  • 71.33 (n)
OneToMany
pax3b 31
  • 68 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Poxn 32
  • 67 (a)
gsb 31
  • 44 (a)
ManyToMany
gsb-n 31
  • 43 (a)
ManyToMany
prd 31
  • 34 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea K06B9.5 32
  • 69 (a)
K07C11.1 32
  • 61 (a)
egl-38 32
  • 59 (a)
pax-3 31
  • 45 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for PAX3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PAX3 Gene

ENSEMBL:
Gene Tree for PAX3 (if available)
TreeFam:
Gene Tree for PAX3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAX3: view image

Paralogs for PAX3 Gene

(10) SIMAP similar genes for PAX3 Gene using alignment to 1 proteins:

  • PAX3_HUMAN
genes like me logo Genes that share paralogs with PAX3: view

Variants for PAX3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAX3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
667018 Pathogenic: Rare genetic deafness 222,220,147(-) G/C NONSENSE
682675 Benign: not provided 222,296,887(-) C/A INTRON_VARIANT
694721 Pathogenic: Albinism, ocular, with sensorineural deafness 222,232,121(-) T/TC FRAMESHIFT_VARIANT
715840 Likely Benign: not provided 222,220,206(-) G/A SYNONYMOUS_VARIANT
720297 Likely Benign: not provided 222,232,243(-) A/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PAX3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PAX3 Gene

Variant ID Type Subtype PubMed ID
esv3584357 CNV loss 25503493
nsv516764 CNV loss 19592680
nsv834549 CNV gain 17160897
nsv834550 CNV gain 17160897

Variation tolerance for PAX3 Gene

Residual Variation Intolerance Score: 59.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAX3 Gene

Human Gene Mutation Database (HGMD)
PAX3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAX3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX3 Gene

Disorders for PAX3 Gene

MalaCards: The human disease database

(61) MalaCards diseases for PAX3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PAX3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PAX3_HUMAN
  • Waardenburg syndrome 1 (WS1) [MIM:193500]: WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients. {ECO:0000269 PubMed:10779847, ECO:0000269 PubMed:12949970, ECO:0000269 PubMed:1303193, ECO:0000269 PubMed:1347148, ECO:0000269 PubMed:1347149, ECO:0000269 PubMed:16971891, ECO:0000269 PubMed:20478267, ECO:0000269 PubMed:21965087, ECO:0000269 PubMed:7825605, ECO:0000269 PubMed:7833953, ECO:0000269 PubMed:7981674, ECO:0000269 PubMed:8447316, ECO:0000269 PubMed:8490648, ECO:0000269 PubMed:8533800, ECO:0000269 PubMed:8589691, ECO:0000269 PubMed:8845842, ECO:0000269 PubMed:9067759, ECO:0000269 PubMed:9452070, ECO:0000269 PubMed:9541113, ECO:0000269 Ref.35}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Waardenburg syndrome 3 (WS3) [MIM:148820]: WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies. {ECO:0000269 PubMed:12949970, ECO:0000269 PubMed:7726174, ECO:0000269 PubMed:8447316, ECO:0000269 Ref.36}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]: 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. {ECO:0000269 PubMed:8664898}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rhabdomyosarcoma 2 (RMS2) [MIM:268220]: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. {ECO:0000269 PubMed:8275086}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator. {ECO:0000269 PubMed:8275086}.
  • 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 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. {ECO:0000269 PubMed:15313887}.

Additional Disease Information for PAX3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PAX3: view

No data available for Genatlas for PAX3 Gene

Publications for PAX3 Gene

  1. Structural basis for DNA recognition by the human PAX3 homeodomain. (PMID: 19199574) Birrane G … Ladias JA (Biochemistry 2009) 3 4 23
  2. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PMID: 19320733) Fernandez LP … Ribas G (Experimental dermatology 2009) 3 23 41
  3. A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. (PMID: 16971891) Qin W … He L (Molecular vision 2006) 3 4 23
  4. Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. (PMID: 15313887) Wachtel M … Schäfer BW (Cancer research 2004) 3 4 23
  5. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. (PMID: 12949970) Wollnik B … Yuksel-Apak M (American journal of medical genetics. Part A 2003) 3 4 23

Products for PAX3 Gene

Sources for PAX3 Gene