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Tbio
PAX3
Paired box protein Pax-3

Protein Summary
Description
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). 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000258387
  • ENSP00000258387
  • ENSG00000135903
  • ENST00000336840
  • ENSP00000338767
  • ENST00000344493
  • ENSP00000342092
  • ENST00000350526
  • ENSP00000343052
  • ENST00000392069
  • ENSP00000375921
  • ENST00000392070
  • ENSP00000375922
  • ENST00000409551
  • ENSP00000386750
  • ENST00000409828
  • ENSP00000386817

Symbol
  • HUP2
  • WS1
  • WS3
  • CDHS
  • HUP2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.88
protein domain
0.85
microRNA
0.83
cell type or tissue
0.8
PubMedID
0.8


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 729.03   (req: < 5)
Gene RIFs: 140   (req: <= 3)
Antibodies: 500   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 729.03   (req: >= 5)
Gene RIFs: 140   (req: > 3)
Antibodies: 500   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (6)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
facial morphology
1
1
1
91.6
balding measurement
1
2
2
88.5
synophrys measurement
1
1
1
73.4
nose morphology measurement
1
1
1
58
hair color
1
3
0
1.1
52.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
facial morphology
1
91.6
balding measurement
2
88.5
synophrys measurement
1
73.4
nose morphology measurement
1
58
hair color
0
1.1
52.5
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
paired box 3
VGNC:2747
459971
Macaque
paired box 3
705315
Mouse
MGI:97487
18505
Rat
RGD:620431
114502
Dog
paired box 3
VGNC:44277
488544
Species
Name
OMA
EggNOG
Inparanoid
Chimp
paired box 3
Macaque
paired box 3
Mouse
Rat
Dog
paired box 3
Protein Data Bank (1)
1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (9)
Chromatin modifying enzymes (R-HSA-3247509)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Chromatin modifying enzymes
Reactome
Chromatin organization
Reactome
HATs acetylate histones
Name
Explore in Pharos
Explore in Source
Chromatin modifying enzymes
Chromatin organization
HATs acetylate histones
Protein-Protein Interactions (189)
1 – 10 of 189
SKAP1
Tbio
Family: Enzyme
Novelty: 0.03753848
p_int: 0.999995642
p_ni: 9.3e-8
p_wrong: 0.000004265
Score: 0.173
Data Source: BioPlex,STRINGDB
NELL2
Tbio
Family: Enzyme
Novelty: 0.03760438
p_int: 0.999858175
p_ni: 0.000003908
p_wrong: 0.000137917
Score: 0.237
Data Source: BioPlex,STRINGDB
SPIN1
Tbio
Novelty: 0.00889909
p_int: 0.952767386
p_ni: 8.06e-7
p_wrong: 0.047231809
Score: 0.356
Data Source: BioPlex,STRINGDB
MITF
Tbio
Family: TF
Novelty: 0.00094044
Score: 0.966
Data Source: STRINGDB
SOX10
Tbio
Family: TF
Novelty: 0.00130552
Score: 0.938
Data Source: STRINGDB
NCOA1
Tchem
Family: Epigenetic
Novelty: 0.00344663
Score: 0.929
Data Source: Reactome,STRINGDB
MYOD1
Tbio
Family: TF
Novelty: 0.00053412
Score: 0.911
Data Source: STRINGDB
MYF5
Tbio
Family: TF
Novelty: 0.00229001
Score: 0.889
Data Source: STRINGDB
FOXD3
Tbio
Family: TF
Novelty: 0.00550321
Score: 0.835
Data Source: STRINGDB
MYOG
Tbio
Family: TF
Novelty: 0.00074867
Score: 0.815
Data Source: STRINGDB
Publication Statistics
PubMed Score  729.03

PubMed score by year
PubTator Score  467.43

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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