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Pax6 Gene Detail
Summary
  • Symbol
    Pax6
  • Name
    paired box 6
  • Synonyms
    1500038E17Rik, AEY11, Dey, Dickie's small eye, Gsfaey11, Pax-6
  • Feature Type
    protein coding gene
  • IDs
    MGI:97490
    NCBI Gene: 18508
  • Gene Overview
    MyGene.info: PAX6
Location & Maps
more
  • Sequence Map
    Chr2:105668900-105697364 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28465 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 55.31 cM
  • Mapping Data
    33 experiments
Homology
more
  • Human Ortholog
    PAX6, paired box 6
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PAX6, paired box 6
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AN, AN2, D11S812E, FVH1, MGDA, WAGR
  • Links
    NCBI Gene ID: 5080
    neXtProt AC: NX_P26367

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

Human Diseases
more
  • Diseases
    5 with Pax6 mouse models; 8 with human PAX6 associations

Human Disease Mouse Models
       Aniridia; AN   OMIM: 106210 View 6 models
Keratitis, Hereditary   OMIM: 148190 View 1 model
Peters Anomaly   OMIM: 604229 View 5 models
Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome; WAGR   OMIM: 194072 View 1 "NOT" model
       Anterior Segment Mesenchymal Dysgenesis; ASMD   OMIM: 107250 View 4 models
       Coloboma of Optic Nerve   OMIM: 120430
Foveal Hypoplasia 1; FVH1   OMIM: 136520
Gillespie Syndrome; GLSP   OMIM: 206700
Optic Nerve Hypoplasia, Bilateral   OMIM: 165550
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    10 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    180 phenotypes from 44 alleles in 48 genetic backgrounds
    37 phenotypes from multigenic genotypes
    10 images
    277 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    59
  • Chemically and radiation induced
    3
  • Chemically induced (ENU)
    23
  • Chemically induced (other)
    2
  • Gene trapped
    7
  • Radiation induced
    4
  • Spontaneous
    4
  • Targeted
    12
  • Transgenic
    4
  • Genomic Mutations
    6 involving Pax6
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015006 VEGA Gene Model | MGI Sequence Detail 28465 C57BL/6J ±  kb
transcript OTTMUST00000035650 VEGA | MGI Sequence Detail 2869 Not Applicable  
polypeptide OTTMUSP00000015980 VEGA | MGI Sequence Detail 436 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    69 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 102
    Genomic 15
    cDNA 64
    Primer pair 22
    Other 1

    Microarray probesets 8
Other
Accession IDs
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MGD-MRK-13149, MGD-MRK-13158, MGD-MRK-14366, MGD-MRK-8831, MGI:2442292, MGI:3529952
References
more
  • Summaries
    All 1387
    Developmental Gene Expression 1122
    Diseases 11
    Gene Ontology 72
    Phenotypes 277
  • Earliest
    J:12101 Roberts RC, Small-eyes, a new dominant mutant in the mouse. Genet Res. 1967;9:121-122
  • Latest
    J:231532 Lange C, et al., Relief of hypoxia by angiogenesis promotes neural stem cell differentiation by targeting glycolysis. EMBO J. 2016 May 2;35(9):924-41

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
06/15/2016
MGI 6.04
The Jackson Laboratory