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Pitx3 Gene Detail
Summary
  • Symbol
    Pitx3
  • Name
    paired-like homeodomain transcription factor 3
  • Synonyms
    Ptx3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100498
    NCBI Gene: 18742
  • Gene Overview
    MyGene.info: PITX3
Location & Maps
more
  • Sequence Map
    Chr19:46135685-46148326 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12642 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 38.75 cM
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    PITX3, paired like homeodomain 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PITX3, paired like homeodomain 3
    Orthology source: HomoloGene
  • Synonyms
    ASMD, ASOD, CTPP4, CTRCT11, PTX3
  • Links
    NCBI Gene ID: 5309
    neXtProt AC: NX_O75364

  • Chr Location
    10q24.32; chr10:102230189-102241474 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pitx3 mouse models; 2 with human PITX3 associations

Human Disease Mouse Models
       Anterior Segment Mesenchymal Dysgenesis; ASMD   OMIM: 107250 View 1 model
       Cataract 11, Multiple Types; CTRCT11   OMIM: 610623
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    78 phenotypes from 6 alleles in 7 genetic backgrounds
    17 phenotypes from multigenic genotypes
    2 images
    69 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Spontaneous
    2
  • Targeted
    10
  • Genomic Mutations
    2 involving Pitx3
Mutations in this gene cause variable defects in many aspects of ocular development and loss of a subset of midbrain dopaminergic neurons. Observed phenotypes may include growth abnormalities, alterations in liver, lung, and bone function, and sex-specific neurobehavioral anomalies.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    61 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 32
    Genomic 13
    cDNA 10
    Primer pair 8
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-1239, MGI:87976
References
more
  • Summaries
    All 168
    Developmental Gene Expression 83
    Diseases 3
    Gene Ontology 14
    Phenotypes 69
  • 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:229533 Kouwenhoven WM, et al., Engrailed 1 shapes the dopaminergic and serotonergic landscape through proper isthmic organizer maintenance and function. Biol Open. 2016;5(3):279-88

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory