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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
Chr2:24420551-24475599 bp, - strand
From VEGA annotation of GRCm38

  55049 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 zebrafish

Protein SuperFamily: paired box protein PAX
Gene Tree: Pax8

Human
homologs
Human Homolog PAX8, paired box 8
NCBI Gene ID 7849
neXtProt AC  NX_Q06710
Human Chr (Location)  2q13; chr2:113215997-113278921 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human PAX8
Alleles
and
phenotypes
All 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 Using Mouse Pax8 (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (55 annotations)
Process cell differentiation, cellular response to gonadotropin stimulus, ...
Component nucleoplasm, nucleus, ...
Function DNA binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (79 records)
Data Summary: Results (373)    Tissues (180)    Images (93)
Theiler Stages: 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28
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)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(54) Genomic(10) cDNA(38) Primer pair(4) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000011957 (Evidence)
Ensembl Gene ModelENSMUSG00000026976 (Evidence)
Entrez Gene18510 (Evidence)
UniGene2533
DFCITC1582701, TC1607610
DoTSDT.60100360, DT.94166328, DT.97410781
NIA Mouse Gene IndexU022363
Consensus CDS ProjectCCDS15738.1
International Mouse Knockout Project StatusPax8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011957 VEGA Gene Model | MGI Sequence Detail 55049 C57BL/6J ±  kb
transcript OTTMUST00000028458 VEGA | MGI Sequence Detail 2569 Not Applicable 
polypeptide OTTMUSP00000012886 VEGA | MGI Sequence Detail 457 Not Applicable 

For the selected sequences
All sequences(65) 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:207793 Lindstrom NO, et al., Nephrons require Rho-kinase for proximal-distal polarity development. Sci Rep. 2013;3:2692
All references(161)
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
07/01/2014
MGI 5.18
The Jackson Laboratory