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Pitx3
Gene Detail
 Symbol
Name
ID
Pitx3
paired-like homeodomain transcription factor 3
MGI:1100498
Synonyms Ptx3
Feature Type protein coding gene
Genetic Map
Chromosome 19
38.75 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)
Sequence Map
Chr19:46135685-46148326 bp, - strand
From VEGA annotation of GRCm38

  12642 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3689  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: homeobox protein, Pitx/Unc30 types
Gene Tree: Pitx3

Human
homologs
Human Homolog PITX3, paired-like homeodomain 3
NCBI Gene ID 5309
neXtProt AC  NX_O75364
Human Synonyms  ASMD, ASOD, CTPP4, CTRCT11, PTX3
Human Chr (Location)  10q24.32; chr10:102230189-102241474 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human PITX3
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Spontaneous(2) Targeted(9)
Genomic Mutations involving Pitx3 (1)
 
Homozygotes for a spontaneous null mutation exhibit eye defects related to impaired lens formation, slightly reduced body weight, and decreased breeding ability (especially in females). Mutants fail to develop dopaminergic neurons of the substantia nigra.
 
Human Diseases Modeled Using Mouse Pitx3 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)
Interactions
Pitx3 interacts with 37 markers (Mir18b, Mir26a-2, Mir26b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process dopaminergic neuron differentiation, lens development in camera-type eye, ...
Component nucleus
Function DNA binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (75 records)
Data Summary: Results (226)    Tissues (151)    Images (72)
Theiler Stages: 15, 17, 19, 20, 21, 22, 23, 24, 25, 26, 27
Assay TypeResults
Immunohistochemistry 7
RNA in situ 154
In situ reporter (knock in) 45
RT-PCR 20
cDNA source data(8)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(32) Genomic(13) cDNA(10) Primer pair(8) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021234 (Evidence)
Ensembl Gene ModelENSMUSG00000025229 (Evidence)
Entrez Gene18742 (Evidence)
UniGene6255
DFCITC1592550
NIA Mouse Gene IndexU039102
Consensus CDS ProjectCCDS29872.1
International Mouse Knockout Project StatusPitx3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021234 VEGA Gene Model | MGI Sequence Detail 12642 C57BL/6J ±  kb
transcript OTTMUST00000050294 VEGA | MGI Sequence Detail 1380 Not Applicable 
polypeptide OTTMUSP00000023460 VEGA | MGI Sequence Detail 302 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(4) UniProt(2)
Polymorphisms All PCR and RFLP(5) : PCR(4) RFLP(1) SNPs within 2kb(61 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017970 Homeobox, conserved site
InterPro IPR016233 Homeobox protein Pitx/unc30
InterPro IPR001356 Homeodomain
InterPro IPR009057 Homeodomain-like
InterPro IPR003654 OAR domain
Protein Ontology PR:000012761 pituitary homeobox 3
References (Earliest) J:5084 Varnum DS, et al., Aphakia, a new mutation in the mouse. J Hered. 1968 Mar-Apr;59(2):147-50
(Latest) J:208435 Yi SH, et al., Foxa2 acts as a co-activator potentiating expression of the Nurr1-induced DA phenotype via epigenetic regulation. Development. 2014 Feb;141(4):761-72
All references(151)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-1239, MGI:87976

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
09/23/2014
MGI 5.19
The Jackson Laboratory