PAX3 (paired box 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5077
Gene name Paired box 3
Gene symbol PAX3
Synonyms (NCBI Gene)
CDHSHUP2PAX-3WS1WS3
Chromosome 2
Chromosome location 2q36.1
Summary 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.
25
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.
153
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT004670 hsa-miR-1-3p ChIP-seqImmunoblotLuciferase reporter assayqRT-PCRWestern blot 20956382
MIRT004670 hsa-miR-1-3p ChIP-seqImmunoblotLuciferase reporter assayqRT-PCRWestern blot 20956382
MIRT004671 hsa-miR-206 ChIP-seqImmunoblotLuciferase reporter assayqRT-PCRWestern blot 20956382
MIRT004671 hsa-miR-206 ChIP-seqImmunoblotLuciferase reporter assayqRT-PCRWestern blot 20956382
MIRT006521 hsa-miR-27a-3p Luciferase reporter assay 19666532
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
POU3F2 Unknown 22290434
STAT3 Repression 19074888
TEAD1 Unknown 21687713
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606597 8617 ENSG00000135903
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
277
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (10)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alveolar rhabdomyosarcoma Pathogenic rs774528745 RCV002500967
Craniofacial-deafness-hand syndrome Pathogenic; Likely pathogenic rs2106094950, rs104893652, rs774528745 RCV002250172
RCV000004434
RCV002500967
Intellectual disability Likely pathogenic; Pathogenic rs773327091, rs1695336858 RCV001526650
RCV001255326
Ocular albinism with congenital sensorineural hearing loss Pathogenic rs1574661904 RCV000856802
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital diaphragmatic hernia Conflicting classifications of pathogenicity rs2234675 RCV000203286
Hearing impairment Uncertain significance; Conflicting classifications of pathogenicity rs756229758, rs200701839 RCV001375358
RCV001375455
Usher syndrome Conflicting classifications of pathogenicity rs151199924 RCV003389463
Show/Hide Text Mining Associations (70)
Associations from Text MiningDisease 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