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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

HCOP human homology predictions: PAX6
Protein SuperFamily: paired box protein PAX
Gene Tree: Pax6

Human
homologs
PAX6, paired box 6
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 5080
neXtProt AC: NX_P26367

Human Synonyms: AN, AN2, D11S812E, FVH1, MGDA, WAGR

Human Chr (Location): 11p13; chr11:31784792-31817961 (-)  GRCh38.p2

Disease Associations: (8) Diseases Associated with Human PAX6

Mutations,
alleles, and
phenotypes
All mutations/alleles(52) : Chemically and radiation induced(3) Chemically induced (ENU)(23) Chemically induced (other)(1) Gene trapped(7) Radiation induced(2) Spontaneous(4) Targeted(12)
Genomic Mutations involving Pax6 (2)
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 in Mice Using Pax6 (4)    Mutations Annotated to Human Diseases (10)    Phenotype Images(10)
Interactions
Pax6 interacts with 490 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (146 annotations)
Process anterior/posterior pattern specification, astrocyte differentiation, ...
Component cell, cytoplasm, ...
Function AT DNA binding, chromatin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1054 records)
Data Summary: Results (1802)    Tissues (556)    Images (666)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 266
RNA in situ 1331
In situ reporter (knock in) 21
Northern blot 35
Western blot 10
RT-PCR 108
RNase protection 31
cDNA source data(42)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA PAX6 ; Xenbase pax6 ; ZFIN pax6a, pax6b    NEW 
Molecular
reagents
All nucleic(92) Genomic(15) cDNA(54) Primer pair(22) Other(1)
Microarray probesets(8)
Other database
links
VEGA Gene Model OTTMUSG00000015006 (Evidence)
Ensembl Gene Model ENSMUSG00000027168 (Evidence)
Entrez Gene 18508 (Evidence)
DFCI TC1580284, TC1587626, TC1595471, TC1619255, TC1633796, TC1635055, TC1637333, TC1714267, TC1718931
Consensus CDS Project CCDS16499.1, CCDS57181.1
International Mouse Phenotyping Consortium Status Pax6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015006 VEGA Gene Model | MGI Sequence Detail 28465 C57BL/6J ±  kb
transcript OTTMUST00000035645 VEGA | MGI Sequence Detail 2779 Not Applicable 
polypeptide OTTMUSP00000015975 VEGA | MGI Sequence Detail 436 Not Applicable 

For the selected sequences
All sequences(142) RefSeq(18) UniProt(10)
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:219823 Rosin JM, et al., Mice lacking the transcription factor SHOX2 display impaired cerebellar development and deficits in motor coordination. Dev Biol. 2015 Mar 1;399(1):54-67
All references(1315)
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
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory