Pax6
Gene Detail

Symbol Name ID

Pax6 paired box gene 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

Chr2:105668896-105703160 bp, + strand From VEGA annotation of GRCm38   34265 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 rhesus macaque; 1 cattle; 1 chicken; 2 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, MGDA, WAGR
Human Chr (Location)		11p13; chr11:31806340-31839509 (-)  GRCh37.p10
Disease Associations		(8) Diseases Associated with Human PAX6

Alleles and phenotypes

All alleles(46) : Targeted(9) Gene trapped(7) Spontaneous(2) Chemically induced(26) Radiation induced(5)
 

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 (5)    Alleles Annotated to Human Diseases(10)    Phenotype Images(8)

Gene Ontology (GO) classifications

All GO classifications: (111 annotations)

Process	anterior/posterior pattern specification, astrocyte differentiation, ...
Component	cytoplasm, intracellular, ...
Function	AT DNA binding, co-SMAD binding, ...

External Resources: FuncBase

Expression

Literature Summary: (877 records)
Data Summary: Results (1645)    Tissues (526)    Images (524)
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, 28

Assay Type	Results
Immunohistochemistry	178
RNA in situ	1260
In situ reporter (knock in)	16
Northern blot	35
Western blot	10
RT-PCR	115
RNase protection	31

cDNA source data(42)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(88) Genomic(15) cDNA(51) Primer pair(21) 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 Knockout Project Status	Pax6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000015006	VEGA Gene Model | MGI Sequence Detail	34265	C57BL/6J
transcript	OTTMUST00000035640	VEGA | MGI Sequence Detail	8401	Not Applicable
polypeptide	OTTMUSP00000015972	VEGA | MGI Sequence Detail	436	Not Applicable

All sequences(167) RefSeq(10) UniProt(17)

Polymorphisms

All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs(38 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:195708 Hart AW, et al., The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas. PLoS One. 2013;8(1):e54173
All references(1124)

Other accession IDs

MGD-MRK-13149, MGD-MRK-13158, MGD-MRK-14366, MGD-MRK-8831, MGI:2442292, MGI:3529952