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Tbio
PAX6
Paired box protein Pax-6

Protein Summary
Description
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes. This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundred ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000241001
  • ENSP00000241001
  • ENSG00000007372
  • ENST00000379107
  • ENSP00000368401
  • ENST00000379109
  • ENSP00000368403
  • ENST00000379129
  • ENSP00000368424
  • ENST00000379132
  • ENSP00000368427
  • ENST00000419022
  • ENSP00000404100
  • ENST00000606377
  • ENSP00000480026
  • ENST00000638903
  • ENSP00000492296
  • ENST00000638914
  • ENSP00000492315
  • ENST00000639409
  • ENSP00000492476
  • ENST00000639916
  • ENSP00000490963
  • ENST00000640287
  • ENSP00000492822
  • ENST00000640368
  • ENSP00000492024
  • ENST00000640610
  • ENSP00000491295
  • ENST00000640975
  • ENSP00000491872
  • ENST00000643871
  • ENSP00000495109
  • ENST00000645710
  • ENSP00000494722

Symbol
  • AN2
  • AN
  • AN2
  • FVH1
  • MGDA
  • WAGR
  • ASGD5
  • D11S812E
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
1
molecular function
1
co-expressed gene
0.97
kinase perturbation
0.96
PubMedID
0.88


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: 1624.06   (req: < 5)
Gene RIFs: 243   (req: <= 3)
Antibodies: 851   (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: 1624.06   (req: >= 5)
Gene RIFs: 243   (req: > 3)
Antibodies: 851   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 70
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
neuroticism measurement
4
5
3
6.2
93.7
worry measurement
2
2
1
5.9
83.8
depressive symptom measurement
1
1
1
79.2
wellbeing measurement
2
1
2
71.4
irritability measurement
1
1
0
6
24.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
neuroticism measurement
3
6.2
93.7
worry measurement
1
5.9
83.8
depressive symptom measurement
1
79.2
wellbeing measurement
2
71.4
irritability measurement
0
6
24.8
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
paired box 6
VGNC:1088
737387
Macaque
paired box 6
695746
Mouse
MGI:97490
18508
Rat
RGD:3258
25509
Horse
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]
Species
Name
OMA
EggNOG
Inparanoid
Chimp
paired box 6
Macaque
paired box 6
Mouse
Rat
Horse
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]
Protein Structure (2 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P26367-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (16)
Activation of HOX genes during differentiation (R-HSA-5619507)

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

Items per page:
1 – 5 of 10
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Activation of HOX genes during differentiation
Reactome
Activation of anterior HOX genes in hindbrain development during early embryogenesis
Reactome
Developmental Biology
Reactome
Incretin synthesis, secretion, and inactivation
Reactome
Metabolism of proteins
Name
Explore in Pharos
Explore in Source
Activation of HOX genes during differentiation
Activation of anterior HOX genes in hindbrain development during early embryogenesis
Developmental Biology
Incretin synthesis, secretion, and inactivation
Metabolism of proteins
Gene Ontology Terms (75)
Items per page:
10
1 – 10 of 16
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Sequence or structural Similarity (ISS)
BHF-UCL
Inferred from Sequence or structural Similarity (ISS)
BHF-UCL
Inferred from Sequence or structural Similarity (ISS)
BHF-UCL
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Traceable Author Statement (TAS)
ProtInc
Traceable Author Statement (TAS)
ProtInc
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (432)
1 – 10 of 432
TNNC2
Tbio
Novelty: 0.07759506
p_int: 0.901915057
p_ni: 0.000098434
p_wrong: 0.097986509
Data Source: BioPlex
INS
Tbio
Novelty: 0.00000499
Score: 0.974
Data Source: STRINGDB
GCG
Tchem
Novelty: 0.00004879
Score: 0.973
Data Source: STRINGDB
SIX3
Tbio
Family: TF
Novelty: 0.00599946
Score: 0.969
Data Source: STRINGDB
SOX2
Tbio
Family: TF
Novelty: 0.00037089
Score: 0.969
Data Source: STRINGDB
EP300
Tchem
Family: Epigenetic
Novelty: 0.00055009
Score: 0.951
Data Source: STRINGDB
NEUROG2
Tbio
Family: TF
Novelty: 0.00489481
Score: 0.95
Data Source: STRINGDB
SUZ12
Tbio
Novelty: 0.00402353
Score: 0.933
Data Source: STRINGDB
EZH2
Tclin
Family: Epigenetic
Novelty: 0.00052816
Score: 0.93
Data Source: STRINGDB
RARB
Tclin
Family: NR
Novelty: 0.00257427
Score: 0.929
Data Source: STRINGDB
Publication Statistics
PubMed Score  1624.06

PubMed score by year
PubTator Score  802.93

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