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Pax6 - paired box 6 Gene

Also Known as Dey; Sey; AEY11; Pax-6; Gsfaey11; 1500038E17Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 18508

Summary

This gene encodes a homeobox-containing protein that functions as a regulator of transcription. It plays a key role in the development of neural tissues, particularly the eye. Activity of this protein is also required for expression of glucagon in the pancreas. This gene is regulated by multiple enhancers located up to tens or hundreds of kilobases upstream and downstream of the transcription start sites. Mutations in this gene or deletion of these regulatory elements results in severe defects in eye development. Alternative splicing and the use of alternative promoters results in multiple transcript variants, some of which encode proteins that lack the N-terminal paired domain. [provided by RefSeq, Jul 2015]

Pax6 Products (8)

mRNA	Protein	Name
NM_001244198.2	NP_001231127.1	paired box protein Pax-6 isoform 1
NM_001244200.2	NP_001231129.1	paired box protein Pax-6 isoform 1
NM_001244201.2	NP_001231130.1	paired box protein Pax-6 isoform 2
NM_001244202.2	NP_001231131.1	paired box protein Pax-6 isoform 2
NM_001310144.1	NP_001297073.1	paired box protein Pax-6 isoform 2
NM_001310145.1	NP_001297074.1	paired box protein Pax-6 isoform 3
NM_001310146.1	NP_001297075.1	paired box protein Pax-6 isoform 3
NM_013627.6	NP_038655.1	paired box protein Pax-6 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	12756174	MGI
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	12756174	MGI
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	18287938	MGI
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	16407227	MGI
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	23622063	MGI
enables HMG box domain binding	IPI IPI: Inferred from physical interaction	16582099	MGI
enables R-SMAD binding	IDA IDA: Inferred from direct assay	17251190	MGI
enables RNA binding	IDA IDA: Inferred from direct assay	24488179	MGI
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	12756174	MGI
enables RNA polymerase II core promoter sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16407227	MGI
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	30186101	MGI
enables chromatin binding	IDA IDA: Inferred from direct assay	19146846	MGI
enables co-SMAD binding	IDA IDA: Inferred from direct assay	17251190	MGI
enables histone acetyltransferase binding	IDA IDA: Inferred from direct assay	16407227	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	16098226	MGI
enables protein kinase binding	IPI IPI: Inferred from physical interaction	16407227	MGI
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	23622063	MGI
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	19521500	MGI
enables transcription coregulator binding	IPI IPI: Inferred from physical interaction	16407227	MGI
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	18628401	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within anterior/posterior pattern specification	IGI IGI: Inferred from genetic interaction	15917450	MGI
acts upstream of or within anterior/posterior pattern specification	IMP IMP: Inferred from mutant phenotype	12196586	MGI
acts upstream of or within astrocyte differentiation	IMP IMP: Inferred from mutant phenotype	19258013	MGI
involved in astrocyte differentiation	IMP IMP: Inferred from mutant phenotype	30186101	MGI
acts upstream of or within axon guidance	IMP IMP: Inferred from mutant phenotype	11967891	MGI
acts upstream of or within axonogenesis	IMP IMP: Inferred from mutant phenotype	15514979	MGI
acts upstream of or within brain development	IMP IMP: Inferred from mutant phenotype	10409504	MGI
acts upstream of or within camera-type eye development	IGI IGI: Inferred from genetic interaction	12072567	MGI
acts upstream of or within camera-type eye development	IMP IMP: Inferred from mutant phenotype	11062307	MGI
acts upstream of or within cell differentiation	IMP IMP: Inferred from mutant phenotype	15031110	MGI
acts upstream of or within cell fate commitment	IGI IGI: Inferred from genetic interaction	15229646	MGI
acts upstream of or within cell fate commitment	IMP IMP: Inferred from mutant phenotype	15878992	MGI
acts upstream of or within cell fate determination	IMP IMP: Inferred from mutant phenotype	12756174	MGI
acts upstream of cell population proliferation	IMP IMP: Inferred from mutant phenotype	15548580	MGI
acts upstream of or within cellular response to leukemia inhibitory factor	IEP IEP: Inferred from expression pattern	20439489	MGI
involved in cerebral cortex development	IMP IMP: Inferred from mutant phenotype	30186101	MGI
acts upstream of or within cerebral cortex regionalization	IMP IMP: Inferred from mutant phenotype	12764040	MGI
involved in cerebral cortex regionalization	IMP IMP: Inferred from mutant phenotype	30186101	MGI
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	30186101	MGI
acts upstream of or within commitment of neuronal cell to specific neuron type in forebrain	IMP IMP: Inferred from mutant phenotype	11124115	MGI
acts upstream of or within dorsal/ventral axis specification	IMP IMP: Inferred from mutant phenotype	10588713	MGI
acts upstream of or within dorsal/ventral pattern formation	IMP IMP: Inferred from mutant phenotype	15548580	MGI
acts upstream of or within embryonic camera-type eye morphogenesis	IGI IGI: Inferred from genetic interaction	18653562	MGI
acts upstream of or within establishment of mitotic spindle orientation	IMP IMP: Inferred from mutant phenotype	22031545	MGI
acts upstream of or within eye photoreceptor cell development	IMP IMP: Inferred from mutant phenotype	12648492	MGI
acts upstream of or within forebrain development	IMP IMP: Inferred from mutant phenotype	15514979	MGI
acts upstream of or within forebrain dorsal/ventral pattern formation	IMP IMP: Inferred from mutant phenotype	11050125	MGI
acts upstream of or within forebrain-midbrain boundary formation	IMP IMP: Inferred from mutant phenotype	9169845	MGI
acts upstream of or within gene expression	IMP IMP: Inferred from mutant phenotype	24488179	MGI
involved in gene expression	IMP IMP: Inferred from mutant phenotype	30186101	MGI
acts upstream of glandular epithelial cell differentiation	IMP IMP: Inferred from mutant phenotype	16080917	MGI
acts upstream of or within habenula development	IMP IMP: Inferred from mutant phenotype	24528677	MGI
acts upstream of or within keratinocyte differentiation	IMP IMP: Inferred from mutant phenotype	16080917	MGI
acts upstream of or within lacrimal gland development	IMP IMP: Inferred from mutant phenotype	10821755	MGI
acts upstream of or within lens development in camera-type eye	IMP IMP: Inferred from mutant phenotype	6877261	MGI
acts upstream of or within negative regulation of epithelial cell proliferation	IMP IMP: Inferred from mutant phenotype	16080917	MGI
acts upstream of or within negative regulation of neural precursor cell proliferation	IMP IMP: Inferred from mutant phenotype	23622063	MGI
acts upstream of or within negative regulation of neuroblast proliferation	IMP IMP: Inferred from mutant phenotype	15548580	MGI
acts upstream of or within negative regulation of neuron differentiation	IGI IGI: Inferred from genetic interaction	16950124	MGI
acts upstream of or within negative regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	16497297	MGI
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	23990468	MGI
involved in nervous system development	IMP IMP: Inferred from mutant phenotype	24802670	MGI
acts upstream of neural precursor cell proliferation	IMP IMP: Inferred from mutant phenotype	23622063	MGI
acts upstream of neuroblast proliferation	IMP IMP: Inferred from mutant phenotype	15548580	MGI
acts upstream of neuron differentiation	IGI IGI: Inferred from genetic interaction	16950124	MGI
involved in neuron differentiation	IMP IMP: Inferred from mutant phenotype	30186101	MGI
acts upstream of or within neuron migration	IMP IMP: Inferred from mutant phenotype	15758185	MGI
involved in neuron migration	IMP IMP: Inferred from mutant phenotype	30186101	MGI
acts upstream of or within oligodendrocyte cell fate specification	IMP IMP: Inferred from mutant phenotype	9828088	MGI
acts upstream of or within pallium development	IMP IMP: Inferred from mutant phenotype	11124115	MGI
involved in pancreatic A cell development	IMP IMP: Inferred from mutant phenotype	20592023	MGI
acts upstream of or within pituitary gland development	IMP IMP: Inferred from mutant phenotype	10588713	MGI
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	20592023	MGI
acts upstream of or within positive regulation of epithelial cell differentiation	IMP IMP: Inferred from mutant phenotype	16080917	MGI
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	20592023	MGI
acts upstream of or within positive regulation of neuroblast proliferation	IMP IMP: Inferred from mutant phenotype	18287938	MGI
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15905411	MGI
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12756174	MGI
acts upstream of or within positive regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	19146846	MGI
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20592023	MGI
acts upstream of or within protein localization to organelle	IMP IMP: Inferred from mutant phenotype	16024294	MGI
acts upstream of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	16497297	MGI
acts upstream of or within regionalization	IMP IMP: Inferred from mutant phenotype	9169845	MGI
acts upstream of or within regulation of asymmetric cell division	IMP IMP: Inferred from mutant phenotype	22031545	MGI
acts upstream of or within regulation of cell migration	IMP IMP: Inferred from mutant phenotype	10409504	MGI
acts upstream of or within regulation of gene expression	IMP IMP: Inferred from mutant phenotype	12764040	MGI
acts upstream of or within regulation of neurogenesis	IMP IMP: Inferred from mutant phenotype	15548580	MGI
acts upstream of or within regulation of neuron differentiation	IMP IMP: Inferred from mutant phenotype	15548580	MGI
acts upstream of or within regulation of timing of cell differentiation	IMP IMP: Inferred from mutant phenotype	9828088	MGI
acts upstream of or within regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	9230312	MGI
acts upstream of or within retina development in camera-type eye	IGI IGI: Inferred from genetic interaction	19146846	MGI
acts upstream of or within salivary gland morphogenesis	IMP IMP: Inferred from mutant phenotype	11731698	MGI
acts upstream of or within signal transduction involved in regulation of gene expression	IDA IDA: Inferred from direct assay	18462699	MGI
acts upstream of or within smoothened signaling pathway	IDA IDA: Inferred from direct assay	18590716	MGI
acts upstream of or within telencephalon regionalization	IMP IMP: Inferred from mutant phenotype	18701439	MGI
acts upstream of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	23643363	MGI
acts upstream of or within type B pancreatic cell differentiation	IMP IMP: Inferred from mutant phenotype	22764048	MGI
involved in ventral spinal cord development	IMP IMP: Inferred from mutant phenotype	20844123	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	20592023	MGI
located in intracellular anatomical structure	IDA IDA: Inferred from direct assay	15793245	MGI
located in nucleus	IDA IDA: Inferred from direct assay	9230312	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
paired box protein Pax-6	Dickie's small eye oculorhombin paired box gene 6

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10093	PAX6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174557	Human PAX6 mRNA		/	Unkown
HY-RS20319	Pax6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26827	Pax6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Pax6	NCBI	NCBI:5080