Pax8
Gene Detail

Symbol Name ID

Pax8 paired box gene 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; chr2:113973574-114036498 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PAX8

Alleles and phenotypes

All alleles(5) : Targeted(5)
 

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: (53 annotations)

Process	cell differentiation, cellular response to gonadotropin stimulus, ...
Component	nucleoplasm, nucleus, ...
Function	DNA binding, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (73 records)
Data Summary: Results (354)    Tissues (179)    Images (82)
Theiler Stages: 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	9
RNA in situ	274
Northern blot	11
Western blot	2
RT-PCR	6
RNase protection	47
Nuclease S1	5

cDNA source data(38)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(56) Genomic(10) cDNA(40) 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 Knockout Project Status	Pax8

Sequences

Length	Strain/Species
genomic	OTTMUSG00000011957	VEGA Gene Model | MGI Sequence Detail	55049	C57BL/6J
transcript	OTTMUST00000028458	VEGA | MGI Sequence Detail	2569	Not Applicable
polypeptide	OTTMUSP00000012886	VEGA | MGI Sequence Detail	457	Not Applicable

All sequences(57) RefSeq(2) UniProt(5)

Polymorphisms

RFLP(5) : SNPs(269 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR009057	Homeodomain-like
InterPro	IPR022130	Paired-box protein 2 C-terminal
InterPro	IPR001523	Paired domain
InterPro	IPR011991	Winged helix-turn-helix transcription repressor DNA-binding
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:189974 Kiefer SM, et al., Conditional expression of Wnt9b in Six2-positive cells disrupts stomach and kidney function. PLoS One. 2012;7(8):e43098
All references(151)

Other accession IDs

MGD-MRK-13151, MGD-MRK-13160