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Pax8
Gene Detail
Symbol

Name
ID
Pax8
paired box 8
MGI:97492
Synonyms
Pax-8
Feature Type
protein coding gene
Genetic Map
Chromosome 2
16.43 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
Chr2:24420560-24475599 bp, - strand
From VEGA annotation of GRCm38

  55040 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2589  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PAX8
Protein SuperFamily: paired box protein PAX
Gene Tree: Pax8

Human
homologs
PAX8, paired box 8
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 7849
neXtProt AC: NX_Q06710

Human Chr (Location): 2q13; chr2:113215997-113278950 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PAX8

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(6)
Incidental mutations (data from APF )
 
Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age.
 
Human Diseases Modeled in Mice Using Pax8 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Pax8 interacts with 203 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (56 annotations)
Process cell differentiation, cellular response to gonadotropin stimulus, ...
Component nucleoplasm, nucleus, ...
Function DNA binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (83 records)
Data Summary: Results (373)    Tissues (185)    Images (93)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 28
RNA in situ 274
Northern blot 11
Western blot 2
RT-PCR 6
RNase protection 47
Nuclease S1 5
cDNA source data(36)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pax8 ; ZFIN pax8    NEW 
Molecular
reagents
All nucleic(54) Genomic(10) cDNA(38) Primer pair(4) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000011957 (Evidence)
Ensembl Gene Model ENSMUSG00000026976 (Evidence)
Entrez Gene 18510 (Evidence)
UniGene 2533
DFCI TC1582701, TC1607610
DoTS DT.60100360, DT.94166328, DT.97410781
NIA Mouse Gene Index U022363
Consensus CDS Project CCDS15738.1
International Mouse Phenotyping Consortium Status Pax8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011957 VEGA Gene Model | MGI Sequence Detail 55040 C57BL/6J ±  kb
transcript OTTMUST00000028458 VEGA | MGI Sequence Detail 2560 Not Applicable 
polypeptide OTTMUSP00000012886 VEGA | MGI Sequence Detail 457 Not Applicable 

For the selected sequences
All sequences(66) RefSeq(10) UniProt(5)
Polymorphisms
RFLP(5) : SNPs within 2kb(306 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009057 Homeodomain-like
InterPro IPR022130 Paired-box protein 2 C-terminal
InterPro IPR001523 Paired domain
InterPro IPR011991 Winged helix-turn-helix DNA-binding domain
Protein Ontology PR:000012320 paired box protein Pax-8
References
(Earliest) J:72 Plachov D, et al., Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development. 1990 Oct;110(2):643-51
(Latest) J:219797 Ranghini EJ, et al., Evidence for intermediate mesoderm and kidney progenitor cell specification by Pax2 and PTIP dependent mechanisms. Dev Biol. 2015 Mar 15;399(2):296-305
All references(165)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-13151, MGD-MRK-13160

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory