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

Protein Classes

No PANTHER Classes or DTO Classes found

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: 1863.71   (req: < 5)

Gene RIFs: 314   (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: 1863.71   (req: >= 5)

Gene RIFs: 314   (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