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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:44744484-44826310 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 38.09 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    483 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    10
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97486
 protein coding gene Chr19:44735040-44826708 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAX2, paired box 2
  • Synonyms
    FSGS7, PAPRS, PAX-2
  • Links
    NCBI Gene ID: 5076
    neXtProt AC: NX_Q02962
    UniProt: Q02962

  • Chr Location
    10q24.31; chr10:100735396-100829944 (+)  GRCh38
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
less
  • Phenotype Summary
    130 phenotypes from 8 alleles in 15 genetic backgrounds
    43 phenotypes from multigenic genotypes
    3 images
    68 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
less
  • All GO Annotations
    133
  • GO References
    45
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
non-membrane-bounded 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
    2637
  • Tissues
    620
  • cDNA Data
    23
  • Literature Summary
    725
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 84
      cDNA 28
      Primer pair 10
      Other 46

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-13145, MGD-MRK-13154, MGI:1934619
    References
    more
    • Summaries
      All 831
      Developmental Gene Expression 725
      Diseases 4
      Gene Ontology 45
      Phenotypes 68
    • Earliest
      J:12104 Dressler GR, et al., Murine genes with homology to Drosophila segmentation genes. Development. 1988;104 Suppl:181-6
    • Latest
      J:344238 Zheng Y, et al., Histone methylation mediated by NSD1 is required for the establishment and maintenance of neuronal identities. Cell Rep. 2023 Dec 26;42(12):113496
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory