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Pax6 paired box 6 [ Mus musculus (house mouse) ]

Gene ID: 18508, updated on 21-Mar-2015
Official Symbol
Pax6provided by MGI
Official Full Name
paired box 6provided by MGI
Primary source
MGI:MGI:97490
See related
Ensembl:ENSMUSG00000027168; Vega:OTTMUSG00000015006
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Dey; Sey; AEY11; Pax-6; Gsfaey11; 1500038E17Rik
Orthologs
See Pax6 in MapViewer
Location:
2 E3; 2 55.31 cM
Exon count:
17
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 2 NC_000068.7 (105667518..105697364)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (105516602..105537226)

Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene paired box 6 opposite strand 1 Neighboring gene predicted gene, 35946 Neighboring gene Pax6 upstream antisense RNA Neighboring gene elongation protein 4 homolog (S. cerevisiae) Neighboring gene predicted gene, 35885 Neighboring gene uncharacterized LOC105244260 Neighboring gene IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
AT DNA binding ISO
Inferred from Sequence Orthology
more info
 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
HMG box domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
R-SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
R-SMAD binding ISO
Inferred from Sequence Orthology
more info
 
RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
co-SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
histone acetyltransferase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
sequence-specific DNA binding RNA polymerase II transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding RNA polymerase II transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anterior/posterior pattern specification IGI
Inferred from Genetic Interaction
more info
PubMed 
anterior/posterior pattern specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
astrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
astrocyte differentiation ISO
Inferred from Sequence Orthology
more info
 
axon guidance IMP
Inferred from Mutant Phenotype
more info
PubMed 
axonogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood vessel development ISO
Inferred from Sequence Orthology
more info
 
brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
brain development ISO
Inferred from Sequence Orthology
more info
 
camera-type eye development IGI
Inferred from Genetic Interaction
more info
PubMed 
camera-type eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell fate commitment IGI
Inferred from Genetic Interaction
more info
PubMed 
cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell fate determination IMP
Inferred from Mutant Phenotype
more info
PubMed 
cerebral cortex regionalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
commitment of neuronal cell to specific neuron type in forebrain IMP
Inferred from Mutant Phenotype
more info
PubMed 
cornea development in camera-type eye ISO
Inferred from Sequence Orthology
more info
 
dorsal/ventral axis specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
dorsal/ventral pattern formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic camera-type eye morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
epithelial cell development ISO
Inferred from Sequence Orthology
more info
 
establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
eye photoreceptor cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
forebrain anterior/posterior pattern specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
forebrain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
forebrain dorsal/ventral pattern formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
forebrain-midbrain boundary formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose homeostasis ISO
Inferred from Sequence Orthology
more info
 
hindbrain development ISO
Inferred from Sequence Orthology
more info
 
insulin metabolic process ISO
Inferred from Sequence Orthology
more info
 
interkinetic nuclear migration ISO
Inferred from Sequence Orthology
more info
 
iris morphogenesis ISO
Inferred from Sequence Orthology
more info
 
keratinocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
lacrimal gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
lens development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organismal development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neural precursor cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neuron differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
neural crest cell migration ISO
Inferred from Sequence Orthology
more info
 
neural precursor cell proliferation ISO
Inferred from Sequence Orthology
more info
 
neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron migration ISO
Inferred from Sequence Orthology
more info
 
olfactory bulb development ISO
Inferred from Sequence Orthology
more info
 
oligodendrocyte cell fate specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
pallium development IMP
Inferred from Mutant Phenotype
more info
PubMed 
pancreatic A cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
pancreatic A cell development ISO
Inferred from Sequence Orthology
more info
 
pancreatic A cell differentiation ISO
Inferred from Sequence Orthology
more info
 
pituitary gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell fate specification ISO
Inferred from Sequence Orthology
more info
 
positive regulation of epithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
positive regulation of glucagon secretion ISO
Inferred from Sequence Orthology
more info
 
positive regulation of neuroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neuron migration ISO
Inferred from Sequence Orthology
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
protein localization to organelle IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of asymmetric cell division IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neurogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neurogenesis ISO
Inferred from Sequence Orthology
more info
 
regulation of neuron differentiation ISO
Inferred from Sequence Orthology
more info
 
regulation of neuron projection development ISO
Inferred from Sequence Orthology
more info
 
regulation of timing of cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription from RNA polymerase II promoter ISO
Inferred from Sequence Orthology
more info
 
regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
retina development in camera-type eye IGI
Inferred from Genetic Interaction
more info
PubMed 
rhombomere morphogenesis ISO
Inferred from Sequence Orthology
more info
 
salivary gland morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction involved in regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
smoothened signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
telencephalon regionalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription from RNA polymerase II promoter ISO
Inferred from Sequence Orthology
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
type B pancreatic cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
type B pancreatic cell differentiation ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISO
Inferred from Sequence Orthology
more info
 
nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISO
Inferred from Sequence Orthology
more info
 
transcription factor complex TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
paired box protein Pax-6
Names
paired box protein Pax-6
Dickie's small eye
oculorhombin
paired box gene 6
small eye

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001244198.1NP_001231127.1  paired box protein Pax-6 isoform 1

    See proteins identical to NP_001231127.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK032616, BC036957, X63963
    Consensus CDS
    CCDS16499.1
    UniProtKB/Swiss-Prot
    P63015
    Related
    ENSMUSP00000106715, OTTMUSP00000015972, ENSMUST00000111086, OTTMUST00000035640
    Conserved Domains (2) summary
    cd00086
    Location:226283
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    cd00131
    Location:5145
    PAX; Paired Box domain
  2. NM_001244200.1NP_001231129.1  paired box protein Pax-6 isoform 1

    See proteins identical to NP_001231129.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AK047243, AY064175, BC036957, CF725212, X63963
    Consensus CDS
    CCDS16499.1
    UniProtKB/Swiss-Prot
    P63015
    UniProtKB/TrEMBL
    Q8VBX9
    Related
    ENSMUSP00000129344, ENSMUST00000167211
    Conserved Domains (2) summary
    cd00086
    Location:226283
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    cd00131
    Location:5145
    PAX; Paired Box domain
  3. NM_001244201.1NP_001231130.1  paired box protein Pax-6 isoform 2

    See proteins identical to NP_001231130.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame coding exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK032616, BC036957
    Consensus CDS
    CCDS57181.1
    UniProtKB/Swiss-Prot
    P63015
    Related
    ENSMUSP00000106716, OTTMUSP00000015973, ENSMUST00000111087, OTTMUST00000035641
    Conserved Domains (3) summary
    cd00086
    Location:212269
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    cd00131
    Location:5131
    PAX; Paired Box domain
    pfam13551
    Location:26128
    HTH_29; Winged helix-turn helix
  4. NM_001244202.1NP_001231131.1  paired box protein Pax-6 isoform 2

    See proteins identical to NP_001231131.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame coding exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK045805, BC036957, BF466986
    Consensus CDS
    CCDS57181.1
    UniProtKB/Swiss-Prot
    P63015
    Related
    ENSMUSP00000106711, OTTMUSP00000015979, ENSMUST00000111082, OTTMUST00000035649
    Conserved Domains (3) summary
    cd00086
    Location:212269
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    cd00131
    Location:5131
    PAX; Paired Box domain
    pfam13551
    Location:26128
    HTH_29; Winged helix-turn helix
  5. NM_013627.5NP_038655.1  paired box protein Pax-6 isoform 1

    See proteins identical to NP_038655.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AK045805, BC036957, BF466986, X63963
    Consensus CDS
    CCDS16499.1
    UniProtKB/Swiss-Prot
    P63015
    Related
    ENSMUSP00000087870, OTTMUSP00000015980, ENSMUST00000090391, OTTMUST00000035650
    Conserved Domains (2) summary
    cd00086
    Location:226283
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    cd00131
    Location:5145
    PAX; Paired Box domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000068.7 Reference GRCm38.p3 C57BL/6J

    Range
    105667518..105697364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006498913.2XP_006498976.1  

    See proteins identical to XP_006498976.1

    UniProtKB/Swiss-Prot
    P63015
    Conserved Domains (2) summary
    cd00086
    Location:226283
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    cd00131
    Location:5145
    PAX; Paired Box domain
  2. XM_006498914.2XP_006498977.1  

    See proteins identical to XP_006498977.1

    UniProtKB/Swiss-Prot
    P63015
    Conserved Domains (2) summary
    cd00086
    Location:226283
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    cd00131
    Location:5145
    PAX; Paired Box domain
  3. XM_011239354.1XP_011237656.1  

    See proteins identical to XP_011237656.1

    Conserved Domains (2) summary
    cd00086
    Location:226283
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    cd00131
    Location:5145
    PAX; Paired Box domain
  4. XM_006498915.2XP_006498978.1  

    See proteins identical to XP_006498978.1

    UniProtKB/Swiss-Prot
    P63015
    Related
    ENSMUSP00000087878, OTTMUSP00000015978, ENSMUST00000090397, OTTMUST00000035648
    Conserved Domains (3) summary
    cd00086
    Location:212269
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    cd00131
    Location:5131
    PAX; Paired Box domain
    pfam13551
    Location:26128
    HTH_29; Winged helix-turn helix

Alternate Mm_Celera

Genomic

  1. AC_000024.1 Alternate Mm_Celera

    Range
    106890276..106918747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)