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Pax2 Gene Detail
Summary
  • Symbol
    Pax2
  • Name
    paired box 2
  • Synonyms
    Opdc, Pax-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97486
    NCBI Gene: 18504
  • Gene Overview
    MyGene.info: PAX2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr19:44756045-44837851 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      81807 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 38.09 cM
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    PAX2, paired box 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PAX2, paired box 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FSGS7, PAPRS
  • Links
    NCBI Gene ID: 5076
    neXtProt AC: NX_Q02962
    UniProt: Q02962

  • Chr Location
    10q24.31; chr10:100732940-100829941 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pax2 mouse models; 3 with human PAX2 associations

Human Disease Mouse Models
      
IDs
View 6 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    134 phenotypes from 9 alleles in 17 genetic backgrounds
    41 phenotypes from multigenic genotypes
    5 images
    59 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.
Homozygous targeted and spontaneous null mutants show impaired to absent development of optic nerve, retina, kidney, ureters, genital tracts, inner ear and midhindbrain. Heterozygotes show milder defects of the optic nerve, retina and kidney.
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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000037630 VEGA Gene Model | MGI Sequence Detail 81807 C57BL/6J ±  kb
    transcript OTTMUST00000097085 VEGA | MGI Sequence Detail 4358 Not Applicable  
    polypeptide OTTMUSP00000054369 VEGA | MGI Sequence Detail 394 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      505 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR009057 Homeobox-like domain superfamily
      IPR022130 Paired-box protein 2 C-terminal
      IPR001523 Paired domain
      IPR036388 Winged helix-like DNA-binding domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 58
      cDNA 24
      Primer pair 5
      Other 29

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-13145, MGD-MRK-13154, MGI:1934619
    References
    more
    • Summaries
      All 675
      Developmental Gene Expression 578
      Diseases 4
      Gene Ontology 42
      Phenotypes 59
    • Earliest
      J:12104 Dressler GR, et al., Murine genes with homology to Drosophila segmentation genes. Development. 1988;104 Suppl:181-6
    • Latest
      J:257955 Patel D, et al., The histone demethylase LSD1 regulates inner ear progenitor differentiation through interactions with Pax2 and the NuRD repressor complex. PLoS One. 2018;13(1):e0191689

    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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    Send questions and comments to User Support.
    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory