Pax8 paired box 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pax8provided by MGI
Official Full Name: paired box 8provided by MGI
Primary source: MGI:MGI:97492
See related: Ensembl:ENSMUSG00000026976 AllianceGenome:MGI:97492
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pax-8
Summary: This gene encodes a member of a family of transcription factors that contain a characteristic N-terminal paired DNA-binding domain. The encoded protein is important for proper differentiation of the thyroid and the kidney. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Mar 2013]
Expression: Biased expression in genital fat pad adult (RPKM 36.6), kidney adult (RPKM 27.4) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 16.43 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (24310563..24365611, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (24420551..24475599, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pax protein depletion in proximal tubules triggers conserved mechanisms of resistance to acute ischemic kidney injury preventing transition to chronic kidney disease.
Title: Pax protein depletion in proximal tubules triggers conserved mechanisms of resistance to acute ischemic kidney injury preventing transition to chronic kidney disease.
Pax8 and Nkx2-1 haploinsufficiencies differentially affect liver metabolic pathways.
Title: Pax8 and Nkx2-1 haploinsufficiencies differentially affect liver metabolic pathways.
Cells expressing PAX8 are the main source of homeostatic regeneration of adult mouse endometrial epithelium and give rise to serous endometrial carcinoma.
Title: Cells expressing PAX8 are the main source of homeostatic regeneration of adult mouse endometrial epithelium and give rise to serous endometrial carcinoma.
PAX8 is a unifying protein driving metastasis in ovarian tumors that could be developed as an effective drug target to treat High Grade serous ovarian cancer derived from both the Ovarian surface epithelium and Fallopian tube epithelium.
Title: Proteomic analysis reveals a role for PAX8 in peritoneal colonization of high grade serous ovarian cancer that can be targeted with micelle encapsulated thiostrepton.
Results show that in both 3- and 8-week-old offspring of the maternal group highly treated with E2, Pax8 was significantly up-regulated in thyroid glands, accompanied by the abnormal CpG island methylation status in the promoter region.
Title: Maternal High Estradiol Exposure is Associated with Elevated Thyroxine and Pax8 in Mouse Offspring.
Demonstrate the stepwise emergence of hitherto undescribed, differently Pax2/Pax8- coded anterior and posterior subdomains in the posterior placodal area of mice.
Title: Pax2/Pax8-defined subdomains and the occurrence of apoptosis in the posterior placodal area of mice.
PAX8 has a cell specific role in governing proliferation and migration in nontransformed ovarian surface epithelium cells compared to the oviductal cells, but its reduction in serous cancer cell lines provides a common mechanism for reducing cell survival.
Title: Loss of PAX8 in high-grade serous ovarian cancer reduces cell survival despite unique modes of action in the fallopian tube and ovarian surface epithelium.
These results suggest that Pax8 maybe the downstream molecule of ALK3, it mediates the murine heart development via cellular senescence, which may serve as a mechanism that compensates for the cell loss via apoptosis in heart development.
Title: Pax8 plays a pivotal role in regulation of cardiomyocyte growth and senescence.
Mice lacking microRNAs in Pax8-expressing cells develop hypothyroidism and end-stage renal failure
Title: Mice lacking microRNAs in Pax8-expressing cells develop hypothyroidism and end-stage renal failure.
PAX8 protein expression was associated with germinal layers in human and murine forebrain and hindbrain development.
Title: Paired box gene 8 (PAX8) expression is associated with sonic hedgehog (SHH)/wingless int (WNT) subtypes, desmoplastic histology and patient survival in human medulloblastomas.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pax8 (e-PCR), detects polymorphism
- UniSTS:536833

Pax8 (e-PCR), detects polymorphism
- UniSTS:144133

Pax8 (e-PCR), detects polymorphism
- UniSTS:144134

PMC187478P1 (e-PCR)
- UniSTS:271729

D11Bir2 (e-PCR), detects polymorphism
- UniSTS:141710

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	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
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II 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 DNA binding	ISO Inferred from Sequence Orthology more info
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

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in S-shaped body morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within animal organ morphogenesis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to gonadotropin stimulus	ISO Inferred from Sequence Orthology more info
involved_in central nervous system development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in kidney epithelium development	IEP Inferred from Expression Pattern more info	PubMed
involved_in mesonephric tubule development	IEP Inferred from Expression Pattern more info	PubMed
involved_in mesonephros development	IEP Inferred from Expression Pattern more info	PubMed
involved_in mesonephros 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 nephron tubule formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephros development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within metanephros development	IGI Inferred from Genetic Interaction 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 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 cardiac muscle cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
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
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 mesenchymal to epithelial transition involved in metanephros morphogenesis	IMP Inferred from Mutant Phenotype 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 thyroid hormone generation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of thyroid hormone generation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology 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 regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of DNA-templated transcription	TAS Traceable Author Statement 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 thyroid-stimulating hormone secretion	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in thyroid gland development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within thyroid gland development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within thyroid gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thyroid gland development	ISO Inferred from Sequence Orthology more info
involved_in urogenital system development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ventricular septum development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement 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 transcription regulator complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: paired box protein Pax-8

Names: paired box gene 8

NCBI Reference Sequences (RefSeq)

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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.