U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 18504, updated on 17-Jan-2023

Summary

Official Symbol
Pax2provided by MGI
Official Full Name
paired box 2provided by MGI
Primary source
MGI:MGI:97486
See related
Ensembl:ENSMUSG00000004231 AllianceGenome:MGI:97486
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
Opdc; Pax-2
Summary
Enables C2H2 zinc finger domain binding activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including negative regulation of apoptotic process involved in development; nervous system development; and urogenital system development. Acts upstream of or within several processes, including animal organ development; cellular response to mechanical stimulus; and regulation of transcription by RNA polymerase II. Located in nucleus. Part of protein-DNA complex. Is expressed in several structures, including central nervous system; embryo ectoderm; genitourinary system; sensory organ; and tibia. Used to study renal coloboma syndrome. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 7 and renal coloboma syndrome. Orthologous to human PAX2 (paired box 2). [provided by Alliance of Genome Resources, Apr 2022]
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)

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 
involved_in 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 
involved_in cellular response to hydrogen peroxide IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cellular response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cellular response to retinoic acid IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in 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 
involved_in 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 
involved_in mesonephric duct development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in mesonephric duct development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in 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 
involved_in 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 DNA-templated transcription ISO
Inferred from Sequence Orthology
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 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 
involved_in 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 DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
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 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 DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
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 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 
involved_in 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
    UniProtKB/TrEMBL
    A0A6P7QVQ1
    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
    UniProtKB/TrEMBL
    A0A6P5NYS0
    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
    UniProtKB/TrEMBL
    A0A6P7QSY5
    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
    UniProtKB/TrEMBL
    A0A8C6MV82, G3X8Q7
    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, A0A8C6H4W1
    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)