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 hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]

Uniprot Accession IDs

• P26367
• Q6N006
• Q99413

Gene Name

• PAX6

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

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

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GENEVA

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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)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
neuroticism measurement	EFO_0007660	4	5	3	6.2	93.7
worry measurement	EFO_0009589	2	2	1	5.9	83.8
depressive symptom measurement	EFO_0007006	1	1	1		79.2
wellbeing measurement	EFO_0007869	2	1	2		71.4
irritability measurement	EFO_0009594	1	1	0	6	24.8

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
neuroticism measurement	EFO_0007660	3	6.2	93.7
worry measurement	EFO_0009589	1	5.9	83.8
depressive symptom measurement	EFO_0007006	1		79.2
wellbeing measurement	EFO_0007869	2		71.4
irritability measurement	EFO_0009594	0	6	24.8

Reset Zoom  Beta Count   Odds Ratio

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	paired box 6	MGI:97490	18508
Rat	paired box 6	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	paired box 6
Rat	paired box 6
Horse	paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]

Protein Structure (2 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

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)

Reactome (10)

KEGG (2)

PathwayCommons (1)

WikiPathways (3)

Activation of HOX genes during differentiation (R-HSA-5619507)

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Find Similar Targets

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Activation of HOX genes during differentiation	90 targets	R-HSA-5619507
Reactome	Activation of anterior HOX genes in hindbrain development during early embryogenesis	90 targets	R-HSA-5617472
Reactome	Developmental Biology	1055 targets	R-HSA-1266738
Reactome	Incretin synthesis, secretion, and inactivation	23 targets	R-HSA-400508
Reactome	Metabolism of proteins	2050 targets	R-HSA-392499

Name	Explore in Pharos	Explore in Source
Activation of HOX genes during differentiation	90 targets	R-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesis	90 targets	R-HSA-5617472
Developmental Biology	1055 targets	R-HSA-1266738
Incretin synthesis, secretion, and inactivation	23 targets	R-HSA-400508
Metabolism of proteins	2050 targets	R-HSA-392499

Gene Ontology Terms (75)

Functions (16)

Components (5)

Processes (54)

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10

1 – 10 of 16

GO Term	Evidence	Assigned by
DNA-binding transcription factor activity, RNA polymerase II-specific	Inferred from Direct Assay (IDA)	BHF-UCL
RNA polymerase II proximal promoter sequence-specific DNA binding	Inferred from Direct Assay (IDA)	BHF-UCL
R-SMAD binding	Inferred from Physical Interaction (IPI)	BHF-UCL
histone acetyltransferase binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
protein kinase binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
transcription factor binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
ubiquitin-protein transferase activity	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
DNA binding	Traceable Author Statement (TAS)	ProtInc
DNA-binding transcription factor activity	Traceable Author Statement (TAS)	ProtInc
chromatin binding	Inferred from Electronic Annotation (IEA)	Ensembl

Protein-Protein Interactions (432)

Explore Interacting Targets

1 – 10 of 432

• See Interactions on String-DB

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

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PubTator Score  802.93

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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ProtVista Viewer

Find similar targets by:

UniProt Keyword Find Similar Targets

3D-structure
Alternative splicing
Complete proteome
Developmental protein
Differentiation
Disease mutation
DNA-binding
Homeobox
Nucleus
Paired box

GWAS Trait Find Similar Targets

body mass index
depressive symptom measurement
irritability measurement
neuroticism measurement
wellbeing measurement
worry measurement

MGI Phenotype Find Similar Targets

behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
craniofacial phenotype
digestive/alimentary phenotype
embryo phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
homeostasis/metabolism phenotype