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    Pax2 paired box 2 [ Mus musculus (house mouse) ]

    Gene ID: 18504, updated on 20-Jul-2021

    Summary

    Official Symbol
    Pax2provided by MGI
    Official Full Name
    paired box 2provided by MGI
    Primary source
    MGI:MGI:97486
    See related
    Ensembl:ENSMUSG00000004231
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Op; Pax; Opdc; Pax-2
    Expression
    Biased expression in kidney adult (RPKM 7.7), genital fat pad adult (RPKM 5.8) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Pax2 in Genome Data Viewer
    Location:
    19 C3; 19 38.09 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (44735040..44826708)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (44746601..44838269)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 19 NC_000085.5 (44831884..44910517)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26644 Neighboring gene Pax2 5' regulatory region Neighboring gene predicted gene, 35610 Neighboring gene RIKEN cDNA 1700039E22 gene Neighboring gene microRNA 6405 Neighboring gene 3-phosphoglycerate dehydrogenase pseudogene Neighboring gene SMC5-SMC6 complex localization factor 2 Neighboring gene predicted gene, 25482

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables C2H2 zinc finger domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in anatomical structure development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in brain morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within branching involved in ureteric bud morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within branching involved in ureteric bud morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cell fate determination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to glucose stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to hydrogen peroxide IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to retinoic acid IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within central nervous system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cochlea development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cochlea morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cochlea morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cochlea morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dopaminergic neuron differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inner ear morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in inner ear morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within kidney development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mesenchymal to epithelial transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mesenchymal to epithelial transition involved in metanephros morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in mesodermal cell fate specification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within mesonephric duct development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in mesonephric duct development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mesonephric tubule development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in mesonephric tubule development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mesonephric tubule formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mesonephros development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mesonephros development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in metanephric collecting duct development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in metanephric distal convoluted tubule development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within metanephric epithelium development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in metanephric mesenchymal cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in metanephric mesenchyme development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in metanephric nephron tubule formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within metanephros development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within metanephros development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of apoptotic process involved in metanephric collecting duct development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process involved in metanephric nephron tubule development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of mesenchymal cell apoptotic process involved in metanephros development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of programmed cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of reactive oxygen species metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nephric duct formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in optic chiasma development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in optic cup morphogenesis involved in camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in optic nerve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in optic nerve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in optic nerve structural organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pancreas development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in paramesonephric duct development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of branching involved in ureteric bud morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of epithelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of metanephric DCT cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of metanephric glomerulus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of optic nerve formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within pronephric field specification IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in pronephros development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of metanephric nephron tubule epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of metanephros size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of metanephros size ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of programmed cell death IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal pigment epithelium development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ureter development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ureter maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ureter morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within ureter morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within ureteric bud development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in urogenital system development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within urogenital system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vestibulocochlear nerve formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in microtubule organizing center ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-DNA complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    paired box protein Pax-2
    Names
    optic disc coloboma
    paired box gene 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001368743.1NP_001355672.1  paired box protein Pax-2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC131105, AC138457
      Conserved Domains (3) summary
      smart00351
      Location:16140
      PAX; Paired Box domain
      pfam12403
      Location:305390
      Pax2_C; Paired-box protein 2 C terminal
      cl00084
      Location:255278
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    2. NM_001368744.1NP_001355673.1  paired box protein Pax-2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC131105, AC138457
      Conserved Domains (3) summary
      smart00351
      Location:47171
      PAX; Paired Box domain
      pfam12403
      Location:313423
      Pax2_C; Paired-box protein 2 C terminal
      cl00084
      Location:263286
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    3. NM_001368745.1NP_001355674.1  paired box protein Pax-2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC131105, AC138457
      Conserved Domains (3) summary
      smart00351
      Location:46170
      PAX; Paired Box domain
      pfam12403
      Location:312422
      Pax2_C; Paired-box protein 2 C terminal
      cl00084
      Location:262285
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    4. NM_001368746.1NP_001355675.1  paired box protein Pax-2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC131105, AC138457
      Consensus CDS
      CCDS89397.1
      Related
      ENSMUSP00000004340.5, ENSMUST00000004340.11
      Conserved Domains (3) summary
      smart00351
      Location:15139
      PAX; Paired Box domain
      pfam12403
      Location:304414
      Pax2_C; Paired-box protein 2 C terminal
      cl00084
      Location:254277
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    5. NM_001368747.1NP_001355676.1  paired box protein Pax-2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC131105, AC138457
      Conserved Domains (3) summary
      smart00351
      Location:16140
      PAX; Paired Box domain
      pfam12403
      Location:282367
      Pax2_C; Paired-box protein 2 C terminal
      cl00084
      Location:232255
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    6. NM_001368748.1NP_001355677.1  paired box protein Pax-2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC131105, AC138457
      Conserved Domains (3) summary
      smart00351
      Location:15139
      PAX; Paired Box domain
      pfam12403
      Location:281366
      Pax2_C; Paired-box protein 2 C terminal
      cl00084
      Location:231254
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    7. NM_001368749.1NP_001355678.1  paired box protein Pax-2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC131105, AC138457
      Conserved Domains (3) summary
      smart00351
      Location:15139
      PAX; Paired Box domain
      pfam12403
      Location:281391
      Pax2_C; Paired-box protein 2 C terminal
      cl00084
      Location:231254
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    8. NM_001368750.1NP_001355679.1  paired box protein Pax-2 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC131105, AC138457
      Conserved Domains (3) summary
      smart00351
      Location:15139
      PAX; Paired Box domain
      pfam12403
      Location:281338
      Pax2_C; Paired-box protein 2 C terminal
      cl00084
      Location:231254
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    9. NM_001368751.1NP_001355680.1  paired box protein Pax-2 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC131105, AC138457
      Conserved Domains (3) summary
      smart00351
      Location:16140
      PAX; Paired Box domain
      pfam12403
      Location:282344
      Pax2_C; Paired-box protein 2 C terminal
      cl00084
      Location:232255
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    10. NM_011037.5NP_035167.4  paired box protein Pax-2 isoform 7

      See identical proteins and their annotated locations for NP_035167.4

      Status: VALIDATED

      Source sequence(s)
      AC131105, AC138457
      Consensus CDS
      CCDS37998.2
      UniProtKB/Swiss-Prot
      P32114
      UniProtKB/TrEMBL
      A0A0R4J267
      Related
      ENSMUSP00000134661.2, ENSMUST00000174490.9
      Conserved Domains (3) summary
      smart00351
      Location:16140
      PAX; Paired Box domain
      pfam12403
      Location:282392
      Pax2_C; Paired-box protein 2 C terminal
      cl00084
      Location:232255
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      44735040..44826708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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