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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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:44756045-44837871 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 38.09 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    505 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97486
protein coding gene Chr19:44745693-44837871 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025176
protein coding gene Chr19:44276901-44361922 (+)
A/J MGP_AJ_G0025153
protein coding gene Chr19:42149178-42236448 (+)
AKR/J MGP_AKRJ_G0025121
protein coding gene Chr19:43503592-43585228 (+)
BALB/cJ MGP_BALBcJ_G0025147
protein coding gene Chr19:42199886-42282050 (+)
C3H/HeJ MGP_C3HHeJ_G0024907
protein coding gene Chr19:43659026-43740412 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025590
protein coding gene Chr19:45360916-45448408 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023004
protein coding gene Chr19:41417976-41500540 (+)
CAST/EiJ MGP_CASTEiJ_G0024372
protein coding gene Chr19:43394011-43481474 (+)
CBA/J MGP_CBAJ_G0024887
protein coding gene Chr19:47649139-47746214 (+)
DBA/2J MGP_DBA2J_G0025019
protein coding gene Chr19:41965850-42048209 (+)
FVB/NJ MGP_FVBNJ_G0024980
protein coding gene Chr19:41736601-41819679 (+)
LP/J MGP_LPJ_G0025105
protein coding gene Chr19:44216552-44302530 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025011
protein coding gene Chr19:47064365-47148942 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025648
protein coding gene Chr19:43578474-43661271 (+)
PWK/PhJ MGP_PWKPhJ_G0024121
protein coding gene Chr19:41870095-41953191 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023925
protein coding gene Chr19:42272565-42355548 (+)
WSB/EiJ MGP_WSBEiJ_G0024442
protein coding gene Chr19:43713744-43801810 (+)



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; 2 with human PAX2 associations

Human Disease Mouse Models
      
IDs
View 6 models
      
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
    130 phenotypes from 8 alleles in 15 genetic backgrounds
    50 phenotypes from multigenic genotypes
    5 images
    62 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004231 Ensembl Gene Model | MGI Sequence Detail 81827 C57BL/6J ±  kb
    transcript ENSMUST00000004340 Ensembl | MGI Sequence Detail 3095 Not Applicable  
    polypeptide ENSMUSP00000004340 Ensembl | MGI Sequence Detail 416 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 65
      cDNA 27
      Primer pair 7
      Other 31

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-13145, MGD-MRK-13154, MGI:1934619
    References
    more
    • Summaries
      All 703
      Developmental Gene Expression 601
      Diseases 4
      Gene Ontology 42
      Phenotypes 62
    • Earliest
      J:12104 Dressler GR, et al., Murine genes with homology to Drosophila segmentation genes. Development. 1988;104 Suppl:181-6
    • Latest
      J:274885 Zhang H, et al., FAT4 Fine-Tunes Kidney Development by Regulating RET Signaling. Dev Cell. 2019 Mar 25;48(6):780-792.e4

    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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    last database update
    10/15/2019
    MGI 6.14
    The Jackson Laboratory