Version 5.4
Homo sapiens Gene: PAX6
Summary
InnateDB Gene IDBG-37434.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAX6
Gene Name paired box 6
Synonyms AN; AN2; D11S812E; FVH1; MGDA; WAGR
Species Homo sapiens
Ensembl Gene ENSG00000007372
Encoded Proteins
IDBP-37436
paired box 6
IDBP-37438
paired box 6
IDBP-37440
paired box 6
IDBP-37442
paired box 6
IDBP-37444
paired box 6
IDBP-37446
paired box 6
IDBP-37448
paired box 6
IDBP-37450
paired box 6
IDBP-370376
paired box 6
IDBP-370416
paired box 6
IDBP-370422
paired box 6
IDBP-370430
paired box 6
IDBP-595083
paired box 6
IDBP-598549
paired box 6
IDBP-808382
paired box 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter\'s anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:31784792-31817961
Strand Reverse strand
Band p13
Transcripts
ENST00000379129 ENSP00000368424
ENST00000379132 ENSP00000368427
ENST00000379123 ENSP00000368418
ENST00000241001 ENSP00000241001
ENST00000379115 ENSP00000368410
ENST00000379111 ENSP00000368406
ENST00000379109 ENSP00000368403
ENST00000379107 ENSP00000368401
ENST00000419022 ENSP00000404100
ENST00000455099 ENSP00000397384
ENST00000423822 ENSP00000388132
ENST00000438681 ENSP00000404356
ENST00000464174
ENST00000474783
ENST00000470027
ENST00000494377
ENST00000471303
ENST00000481563
ENST00000533333
ENST00000532916
ENST00000530373
ENST00000531910
ENST00000534390
ENST00000534353
ENST00000530714
ENST00000533156
ENST00000524853 ENSP00000431585
ENST00000527769
ENST00000532175
ENST00000525535 ENSP00000436365
ENST00000606377 ENSP00000480026
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.
Experimentally validated
Total 47 [view]
Protein-Protein 44 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 13 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003680 AT DNA binding
GO:0003682 chromatin binding
GO:0003690 double-stranded DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019901 protein kinase binding
GO:0031625 ubiquitin protein ligase binding
GO:0035035 histone acetyltransferase binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0070410 co-SMAD binding
GO:0070412 R-SMAD binding
GO:0071837 HMG box domain binding
Biological Process
GO:0001568 blood vessel development
GO:0001654 eye development
GO:0001709 cell fate determination
GO:0001755 neural crest cell migration
GO:0001764 neuron migration
GO:0002052 positive regulation of neuroblast proliferation
GO:0002064 epithelial cell development
GO:0002088 lens development in camera-type eye
GO:0003309 type B pancreatic cell differentiation
GO:0003310 pancreatic A cell differentiation
GO:0003322 pancreatic A cell development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007224 smoothened signaling pathway
GO:0007275 multicellular organismal development
GO:0007409 axonogenesis
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0007435 salivary gland morphogenesis
GO:0007601 visual perception
GO:0008285 negative regulation of cell proliferation
GO:0009611 response to wounding
GO:0009887 organ morphogenesis
GO:0009950 dorsal/ventral axis specification
GO:0009952 anterior/posterior pattern specification
GO:0009953 dorsal/ventral pattern formation
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0010975 regulation of neuron projection development
GO:0016567 protein ubiquitination
GO:0021510 spinal cord development
GO:0021543 pallium development
GO:0021549 cerebellum development
GO:0021593 rhombomere morphogenesis
GO:0021772 olfactory bulb development
GO:0021778 oligodendrocyte cell fate specification
GO:0021796 cerebral cortex regionalization
GO:0021797 forebrain anterior/posterior pattern specification
GO:0021798 forebrain dorsal/ventral pattern formation
GO:0021902 commitment of neuronal cell to specific neuron type in forebrain
GO:0021905 forebrain-midbrain boundary formation
GO:0021912 regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification
GO:0021913 regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification
GO:0021918 regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment
GO:0021978 telencephalon regionalization
GO:0021983 pituitary gland development
GO:0022027 interkinetic nuclear migration
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030154 cell differentiation
GO:0030216 keratinocyte differentiation
GO:0030334 regulation of cell migration
GO:0030858 positive regulation of epithelial cell differentiation
GO:0030900 forebrain development
GO:0030902 hindbrain development
GO:0032808 lacrimal gland development
GO:0032869 cellular response to insulin stimulus
GO:0033365 protein localization to organelle
GO:0035690 cellular response to drug
GO:0042462 eye photoreceptor cell development
GO:0042593 glucose homeostasis
GO:0042660 positive regulation of cell fate specification
GO:0043010 camera-type eye development
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0045165 cell fate commitment
GO:0045471 response to ethanol
GO:0045664 regulation of neuron differentiation
GO:0045665 negative regulation of neuron differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048505 regulation of timing of cell differentiation
GO:0048596 embryonic camera-type eye morphogenesis
GO:0048663 neuron fate commitment
GO:0048708 astrocyte differentiation
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050767 regulation of neurogenesis
GO:0050768 negative regulation of neurogenesis
GO:0060041 retina development in camera-type eye
GO:0061072 iris morphogenesis
GO:0061303 cornea development in camera-type eye
GO:0061351 neural precursor cell proliferation
GO:0070094 positive regulation of glucagon secretion
GO:0071333 cellular response to glucose stimulus
GO:0071380 cellular response to prostaglandin E stimulus
GO:1901142 insulin metabolic process
GO:2001224 positive regulation of neuron migration
Cellular Component
GO:0000790 nuclear chromatin
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000027168
View Gene Order
ENSBTAG00000004561
Not yet available
Pathways
NETPATH
REACTOME
REACT_23824
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) pathway
REACT_24019
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) pathway
REACT_13819
Regulation of gene expression in beta cells pathway
REACT_111045
Developmental Biology pathway
REACT_13698
Regulation of beta-cell development pathway
REACT_23974
Incretin synthesis, secretion, and inactivation pathway
REACT_17015
Metabolism of proteins pathway
REACT_160078
Peptide hormone metabolism pathway
KEGG
hsa04950
Maturity onset diabetes of the young pathway
INOH
PID NCI
cdc42_pathway
CDC42 signaling events
Cross-References
SwissProt P26367
TrEMBL B1B1I8 D3DQZ8 E5LBD7 E9PKM0 Q66SS1 Q6VMP0
UniProt Splice Variant
Entrez Gene 5080
UniGene Hs.270303 Hs.502235 Hs.611376 Hs.694375
RefSeq NM_000280 NM_001258464 NM_001127612 NM_001258462 NM_001258463 NM_001258465 NM_001604 XM_005252954 XM_005252955
HUGO HGNC:8620
OMIM 607108
CCDS CCDS31451 CCDS31452
HPRD 06167
IMGT
EMBL AY047583 AY337852 AY707088 BC011953 BX640762 CH471064 HQ397714 M77844 M93650 Z83307 Z95332
GenPept AAA36416 AAA59962 AAH11953 AAK95849 AAR10412 AAU12168 ADP65746 CAE45868 CAG38087 CAG38363 EAW68233 EAW68234
RNA Seq Atlas 5080

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca