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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
  • Alliance
    gene page
  • Transcription Start Sites
    22 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:105499245-105527709 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 55.31 cM
  • Mapping Data
    33 experiments
Strain
Comparison
more
  • SNPs within 2kb
    475 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97490
 protein coding gene Chr2:105499241-105528755 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026230
 protein coding gene Chr2:107842531-107872876 (+)
A/J MGP_AJ_G0026191
 protein coding gene Chr2:103346997-103376112 (+)
AKR/J MGP_AKRJ_G0026171
 protein coding gene Chr2:106168164-106196460 (+)
BALB/cJ MGP_BALBcJ_G0026200
 protein coding gene Chr2:103624178-103653224 (+)
C3H/HeJ MGP_C3HHeJ_G0025950
 protein coding gene Chr2:106465683-106497601 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026651
 protein coding gene Chr2:111375917-111407196 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024037
 protein coding gene Chr2:99135892-99164291 (+)
CAST/EiJ MGP_CASTEiJ_G0025415
 protein coding gene Chr2:106993715-107026893 (+)
CBA/J MGP_CBAJ_G0025928
 protein coding gene Chr2:115224186-115254439 (+)
DBA/2J MGP_DBA2J_G0026066
 protein coding gene Chr2:102881654-102910294 (+)
FVB/NJ MGP_FVBNJ_G0026029
 protein coding gene Chr2:101861472-101890664 (+)
LP/J MGP_LPJ_G0026169
 protein coding gene Chr2:107971654-108004188 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026053
 protein coding gene Chr2:119042249-119073732 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026705
 protein coding gene Chr2:106351569-106384392 (+)
PWK/PhJ MGP_PWKPhJ_G0025150
 protein coding gene Chr2:102426053-102455124 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024950
 protein coding gene Chr2:105578219-105607790 (+)
WSB/EiJ MGP_WSBEiJ_G0025482
 protein coding gene Chr2:107099066-107128901 (+)



Homology
more
  • Human Ortholog
    PAX6, paired box 6
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAX6, paired box 6
  • Synonyms
    AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR
  • Links
    NCBI Gene ID: 5080
    neXtProt AC: NX_P26367
    UniProt: P26367

  • Chr Location
    11p13; chr11:31784779-31817961 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with Pax6 mouse models; 13 with human PAX6 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
 View 1 model
IDs
 View 5 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    188 phenotypes from 42 alleles in 45 genetic backgrounds
    46 phenotypes from multigenic genotypes
    10 images
    372 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.
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
less
  • All GO Annotations
    211
  • GO References
    81
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    4359
  • Tissues
    799
  • cDNA Data
    59
  • Literature Summary
    1916
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027168 Ensembl Gene Model | MGI Sequence Detail 28465 C57BL/6J ±  kb
    transcript ENSMUST00000167211 Ensembl | MGI Sequence Detail 2814 Not Applicable  
    polypeptide ENSMUSP00000129344 Ensembl | MGI Sequence Detail 436 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 217
      Genomic 15
      cDNA 76
      Primer pair 50
      Other 76

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-13149, MGD-MRK-13158, MGD-MRK-14366, MGD-MRK-8831, MGI:2442292, MGI:3529952
    References
    more
    • Summaries
      All 2274
      Developmental Gene Expression 1916
      Diseases 6
      Gene Ontology 81
      Phenotypes 372
    • Earliest
      J:12101 Roberts RC, Small-eyes, a new dominant mutant in the mouse. Genet Res. 1967;9(1):121-122
    • Latest
      J:356256 Bertino F, et al., Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus. Cell Rep Med. 2024 Jul 16;5(7):101647
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory