Mus musculus Gene: Pax6
Summary
InnateDB Gene IDBG-194974.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Pax6
Gene Name paired box gene 6
Synonyms 1500038E17Rik; AEY11; Dey; Gsfaey11; Pax-6; Sey;
Species Mus musculus
Ensembl Gene ENSMUSG00000027168
Encoded Proteins
paired box gene 6
paired box gene 6
paired box gene 6
paired box gene 6
paired box gene 6
paired box gene 6
paired box gene 6
paired box gene 6
paired box 6
paired box gene 6
paired box gene 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000007372:
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 2:105668900-105697364
Strand Forward strand
Band E3
Transcripts
ENSMUST00000090397 ENSMUSP00000087878
ENSMUST00000090391 ENSMUSP00000087870
ENSMUST00000111088 ENSMUSP00000106717
ENSMUST00000111087 ENSMUSP00000106716
ENSMUST00000111086 ENSMUSP00000106715
ENSMUST00000111085 ENSMUSP00000106714
ENSMUST00000111083 ENSMUSP00000106712
ENSMUST00000111082 ENSMUSP00000106711
ENSMUST00000123063
ENSMUST00000142772 ENSMUSP00000139168
ENSMUST00000147923
ENSMUST00000153639
ENSMUST00000156216 ENSMUSP00000119375
ENSMUST00000153011
ENSMUST00000140173
ENSMUST00000135412
ENSMUST00000154643
ENSMUST00000138365
ENSMUST00000145744
ENSMUST00000155081
ENSMUST00000154302
ENSMUST00000123000
ENSMUST00000146803
ENSMUST00000147946
ENSMUST00000172990
ENSMUST00000167211 ENSMUSP00000129344
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 31 interaction(s) predicted by orthology.
Experimentally validated
Total 24 [view]
Protein-Protein 21 [view]
Protein-DNA 2 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 31 [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: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: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: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:0007409 axonogenesis
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0007435 salivary gland morphogenesis
GO:0008285 negative regulation of cell proliferation
GO:0009611 response to wounding
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: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:0048708 astrocyte differentiation
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050767 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:0005667 transcription factor complex
GO:0005737 cytoplasm
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Incretin synthesis, secretion, and inactivation pathway
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) pathway
Metabolism of proteins pathway
Peptide hormone metabolism pathway
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) pathway
KEGG
Maturity onset diabetes of the young pathway
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Developmental Biology pathway
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) pathway
Regulation of beta-cell development pathway
Incretin synthesis, secretion, and inactivation pathway
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) pathway
Metabolism of proteins pathway
Regulation of gene expression in beta cells pathway
Peptide hormone metabolism pathway
Peptide hormone metabolism pathway
Incretin synthesis, secretion, and inactivation pathway
Regulation of gene expression in early pancreatic precursor cells pathway
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) pathway
Regulation of gene expression in beta cells pathway
Regulation of beta-cell development pathway
Metabolism of proteins pathway
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) pathway
Developmental Biology pathway
KEGG
Maturity onset diabetes of the young pathway
INOH
PID BIOCARTA
PID NCI
CDC42 signaling events
Cross-References
SwissProt
TrEMBL A2A412
UniProt Splice Variant
Entrez Gene 18508
UniGene Mm.33870 Mm.3608 Mm.401814 Mm.412437 Mm.414199 Mm.415136 Mm.462598 Mm.487124
RefSeq NM_001244198 NM_001244200 NM_001244201 NM_001244202 NM_013627 XM_006498913 XM_006498914 XM_006498915 XM_006498916 XM_006498917
OMIM
CCDS CCDS16499 CCDS57181
HPRD
IMGT
MGI ID MGI:97490
MGI Symbol Pax6
EMBL AL512589
GenPept
RNA Seq Atlas 18508