About   Help   FAQ
Pax2
Gene Detail
Symbol

Name
ID
Pax2
paired box 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
Chr19:44756045-44837851 bp, + strand
From VEGA annotation of GRCm38

  81807 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; 2 zebrafish

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  FSGS7, PAPRS
Human Chr (Location)  10q24; chr10:100745711-100829941 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human PAX2
Mutations,
alleles, and
phenotypes
All mutations/alleles(22) : Chemically induced (ENU)(2) Gene trapped(12) Spontaneous(1) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
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)
Interactions
Pax2 interacts with 202 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (487 records)
Data Summary: Results (985)    Tissues (415)    Images (400)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 147
RNA in situ 701
In situ reporter (knock in) 17
Northern blot 16
Western blot 6
RT-PCR 47
RNase protection 51
cDNA source data(20)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(52) cDNA(24) Primer pair(5) Other(23)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000037630 (Evidence)
Ensembl Gene ModelENSMUSG00000004231 (Evidence)
Entrez Gene18504 (Evidence)
UniGene192158
DFCITC1644020, TC1726614
DoTSDT.91377527, DT.91399396
NIA Mouse Gene IndexU019493, U046604
Consensus CDS ProjectCCDS37998.2
International Mouse Knockout Project StatusPax2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037630 VEGA Gene Model | MGI Sequence Detail 81807 C57BL/6J ±  kb
transcript OTTMUST00000097085 VEGA | MGI Sequence Detail 4358 Not Applicable 
polypeptide OTTMUSP00000054369 VEGA | MGI Sequence Detail 394 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(22) UniProt(5)
Polymorphisms
RFLP(10) : SNPs within 2kb(489 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: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:209154 Kelberman D, et al., Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet. 2014 May 15;23(10):2511-26
All references(576)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-13145, MGD-MRK-13154, MGI:1934619

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/18/2014
MGI 5.20
The Jackson Laboratory