Pax2
Gene Detail

Symbol Name ID

Pax2 paired box gene 2 MGI:97486

Synonyms

Opdc, Pax-2

Feature Type

protein coding gene

Genetic Map

Chromosome 19

38.09 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)

Sequence Map

Chr19:44756049-44838268 bp, + strand From VEGA annotation of GRCm38   82220 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:2968  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: paired box protein PAX
Gene Tree: Pax2

Human homologs

Human Homolog		PAX2, paired box 2
NCBI Gene ID		5076
neXtProt AC		NX_Q02962
Human Synonyms		PAPRS
Human Chr (Location)		10q24; chr10:102505468-102589698 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human PAX2

Alleles and phenotypes

All alleles(22) : Targeted(7) Gene trapped(12) Spontaneous(1) Chemically induced(2)
 

Homozygous targeted and spontaneous null mutants show impaired to absent development of optic nerve, retina, kidney, ureters, genital tracts, inner ear and midhindbrain. Heterozygotes show milder defects of the optic nerve, retina and kidney.

 
Human Diseases Modeled Using Mouse Pax2 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (105 annotations)

Process	brain morphogenesis, branching involved in ureteric bud morphogenesis, ...
Component	centriolar satellite, lysosome, ...
Function	C2H2 zinc finger domain binding, core promoter proximal region sequence-specific DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (448 records)
Data Summary: Results (905)    Tissues (404)    Images (354)
Theiler Stages: 2, 3, 4, 5, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	126
RNA in situ	635
In situ reporter (knock in)	17
Northern blot	16
Western blot	6
RT-PCR	54
RNase protection	51

cDNA source data(19)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(46) cDNA(22) Primer pair(5) Other(19)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000037630 (Evidence)
Ensembl Gene Model	ENSMUSG00000004231 (Evidence)
Entrez Gene	18504 (Evidence)
UniGene	192158
DFCI	TC1644020, TC1726614
DoTS	DT.91377527, DT.91399396
NIA Mouse Gene Index	U019493, U046604
Consensus CDS Project	CCDS37998.2
International Mouse Knockout Project Status	Pax2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000037630	VEGA Gene Model | MGI Sequence Detail	82220	C57BL/6J
transcript	OTTMUST00000097086	VEGA | MGI Sequence Detail	1307	Not Applicable
polypeptide	OTTMUSP00000054370	VEGA | MGI Sequence Detail	432	Not Applicable

All sequences(34) RefSeq(2) UniProt(4)

Polymorphisms

RFLP(10) : SNPs(448 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 DNA-binding domain
Protein Ontology	PR:000012315	paired box protein Pax-2

References

(Earliest) J:12104 Dressler GR, et al., Murine genes with homology to Drosophila segmentation genes. Development. 1988;104 Suppl:181-6
(Latest) J:194051 Heliot C, et al., HNF1B controls proximal-intermediate nephron segment identity in vertebrates by regulating Notch signalling components and Irx1/2. Development. 2013 Feb;140(4):873-85
All references(537)

Other accession IDs

MGD-MRK-13145, MGD-MRK-13154, MGI:1934619