PAX3 (paired box 3)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5077
Gene name Gene Name - the full gene name approved by the HGNC.
Paired box 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PAX3
Synonyms (NCBI Gene) Gene synonyms aliases
CDHS, HUP2, PAX-3, WS1, WS3
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q36.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
SNP ID Visualize variation Clinical significance Consequence
rs116473352 C>G Conflicting-interpretations-of-pathogenicity, benign, likely-benign Coding sequence variant, missense variant
rs147111779 G>A,C Likely-benign, pathogenic Synonymous variant, coding sequence variant, genic downstream transcript variant, stop gained, intron variant
rs369886550 G>A,C,T Likely-pathogenic Stop gained, missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs772241382 G>A Pathogenic Genic downstream transcript variant, coding sequence variant, stop gained
rs876657717 C>T Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(153)
miRTarBase ID miRNA Experiments Reference
MIRT004670 hsa-miR-1-3p ChIP-seq, Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 20956382
MIRT004670 hsa-miR-1-3p ChIP-seq, Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 20956382
MIRT004671 hsa-miR-206 ChIP-seq, Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 20956382
MIRT004671 hsa-miR-206 ChIP-seq, Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 20956382
MIRT006521 hsa-miR-27a-3p Luciferase reporter assay 19666532
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
POU3F2 Unknown 22290434
STAT3 Repression 19074888
TEAD1 Unknown 21687713
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606597 8617 ENSG00000135903
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P23760
Protein name Paired box protein Pax-3 (HuP2)
Protein 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). {ECO:0000269|PubMed:169511
PDB 3CMY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00292 PAX 34 → 159 Domain
PF00046 Homeodomain 220 → 276 Homeodomain Domain
PF12360 Pax7 347 → 391 Paired box protein 7 Family
Sequence 
MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIV
EMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEE
YKRENPGMFSWEIRDKLLKDAVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEES
EKKAKHSIDGILSERASAPQSDEGSDIDSEPDLPLKRKQRRSRTTFTAEQLEELERAFER
THYPDIYTREELAQRAKLTEARVQVWFSNRRARWRKQAGANQLMAFNHLIPGGFPPTAMP
TLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDSSSAYCLPSTR
HGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQVMGLLTNHGGVPHQPQTDYALSPLTGGLE
PTTTVSASCSQRLDHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQSKPWTF
Sequence length 479
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Transcriptional misregulation in cancer   HATs acetylate histones
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Craniofacial-Deafness-Hand Syndrome craniofacial-deafness-hand syndrome rs104893652 N/A
Waardenburg Syndrome waardenburg syndrome type 1, waardenburg syndrome type 3, waardenburg syndrome rs1553572946, rs104893651, rs777297575, rs876661317, rs773327091, rs1380858784, rs1553593917, rs886041319, rs772241382, rs1553593928, rs774528745, rs1228590199, rs104893653, rs1553575159, rs1553572967
View all (34 more)		 N/A
Mental retardation intellectual disability rs773327091 N/A
Ocular Albinism With Congenital Sensorineural Deafness Ocular albinism with congenital sensorineural hearing loss rs1574661904 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital diaphragmatic hernia congenital diaphragmatic hernia N/A N/A ClinVar
hearing impairment Hearing impairment N/A N/A ClinVar
Insomnia Insomnia N/A N/A GWAS
Usher Syndrome usher syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (70)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 25114068
Arm Injuries Associate 34389744
Astrocytoma Associate 26497896
Ataxia Telangiectasia Associate 35879366
Autistic Disorder Associate 12070244
Breast Neoplasms Associate 28747748
Calcinosis Cutis Associate 22089931
Carcinogenesis Associate 15184910, 26355893, 33627785
Carcinoma Ovarian Epithelial Associate 31823759
Chromosome Aberrations Associate 7942851