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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
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
  • Synonyms
    FSGS7, PAPRS
  • Links
    NCBI Gene ID: 5076
    neXtProt AC: NX_Q02962

  • Chr Location
    10q24; chr10:100735709-100829941 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Papillorenal Syndrome; PAPRS   OMIM: 120330 View 6 models
       Focal Segmental Glomerulosclerosis 7; FSGS7   OMIM: 616002
Renal Hypodysplasia/Aplasia 1; RHDA1   OMIM: 191830
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
    33 phenotypes from multigenic genotypes
    3 images
    56 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
    23
  • Chemically induced (ENU)
    2
  • Gene trapped
    12
  • Spontaneous
    1
  • Targeted
    7
  • Transgenic
    1
  • Genomic Mutations
    1 involving Pax2
  • Incidental Mutations
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
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 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
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  • SNPs within 2kb
    505 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 54
    cDNA 24
    Primer pair 5
    Other 25

    Microarray probesets 2
Other
Accession IDs
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MGD-MRK-13145, MGD-MRK-13154, MGI:1934619
References
more
  • Summaries
    All 618
    Developmental Gene Expression 533
    Diseases 4
    Gene Ontology 41
    Phenotypes 56
  • Earliest
    J:12104 Dressler GR, et al., Murine genes with homology to Drosophila segmentation genes. Development. 1988;104 Suppl:181-6
  • Latest
    J:231833 Hashimoto R, et al., Origins of oligodendrocytes in the cerebellum, whose development is controlled by the transcription factor, Sox9. Mech Dev. 2016 May;140:25-40

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
07/19/2016
MGI 6.04
The Jackson Laboratory