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Pax6
Gene Detail
 Symbol
Name
ID
Pax6
paired box 6
MGI:97490
Synonyms 1500038E17Rik, AEY11, Dey, Dickie's small eye, Gsfaey11, Pax-6
Feature Type protein coding gene
Genetic Map
Chromosome 2
55.31 cM
Detailed Genetic Map ± 1 cM


Mapping data(33)
Sequence Map
Chr2:105668900-105697364 bp, + strand
From VEGA annotation of GRCm38

  28465 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1212  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: paired box protein PAX
Gene Tree: Pax6

Human
homologs
Human Homolog PAX6, paired box 6
NCBI Gene ID 5080
neXtProt AC  NX_P26367
Human Synonyms  AN, AN2, D11S812E, FVH1, MGDA, WAGR
Human Chr (Location)  11p13; chr11:31784792-31817961 (-)  GRCh38
Disease Associations  (8) Diseases Associated with Human PAX6
Mutations,
alleles, and
phenotypes
All mutations/alleles(50) : Chemically and radiation induced(3) Chemically induced (ENU)(23) Chemically induced (other)(1) Gene trapped(7) Radiation induced(2) Spontaneous(2) Targeted(12)
Incidental mutations (data from Mutagenetix , APF )
 
Null and hypomorphic mutants show a range of phenotypes from viable with small eyes and lens/cornea fusion to microphthalmia and cataract to embryonic or perinatal lethality with anophthalmia and severe craniofacial and forebrain defects.
 
Human Diseases Modeled Using Mouse Pax6 (4)    Alleles Annotated to Human Diseases(10)    Phenotype Images(8)
Interactions
Pax6 interacts with 491 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (144 annotations)
Process anterior/posterior pattern specification, astrocyte differentiation, ...
Component cell, cytoplasm, ...
Function AT DNA binding, chromatin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (985 records)
Data Summary: Results (1732)    Tissues (549)    Images (582)
Theiler Stages: 2, 3, 4, 5, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 198
RNA in situ 1329
In situ reporter (knock in) 21
Northern blot 35
Western blot 10
RT-PCR 108
RNase protection 31
cDNA source data(42)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(92) Genomic(15) cDNA(54) Primer pair(22) Other(1)
Microarray probesets(8)
Other database
links
VEGA Gene ModelOTTMUSG00000015006 (Evidence)
Ensembl Gene ModelENSMUSG00000027168 (Evidence)
Entrez Gene18508 (Evidence)
DFCITC1580284, TC1587626, TC1595471, TC1619255, TC1633796, TC1635055, TC1637333, TC1714267, TC1718931
Consensus CDS ProjectCCDS16499.1, CCDS57181.1
International Mouse Knockout Project StatusPax6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015006 VEGA Gene Model | MGI Sequence Detail 28465 C57BL/6J ±  kb
transcript OTTMUST00000035640 VEGA | MGI Sequence Detail 2601 Not Applicable 
polypeptide OTTMUSP00000015972 VEGA | MGI Sequence Detail 436 Not Applicable 

For the selected sequences
All sequences(156) RefSeq(20) UniProt(16)
Polymorphisms All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(66 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017970 Homeobox, conserved site
InterPro IPR001356 Homeodomain
InterPro IPR009057 Homeodomain-like
InterPro IPR001523 Paired domain
InterPro IPR011991 Winged helix-turn-helix DNA-binding domain
Protein Ontology PR:000012318 paired box protein Pax-6
References (Earliest) J:12101 Roberts RC, Small-eyes, a new dominant mutant in the mouse. Genet Res. 1967;9:121-122
(Latest) J:209564 Karaca E, et al., Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24;157(3):636-50
All references(1244)
Disease annotation references (11)
Other
accession IDs
MGD-MRK-13149, MGD-MRK-13158, MGD-MRK-14366, MGD-MRK-8831, MGI:2442292, MGI:3529952

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory