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FLASH GENE
Symbol PITX3 contributors: mct - updated : 27-03-2019
HGNC name paired-like homeodomain 3
HGNC id 9006
Corresponding disease
ASMD2 ocular anterior segment mesenchymal dysgenesis 2
CTPP2 cataract, posterior polar 2
Location 10q24.32      Physical location : 103.989.945 - 104.001.231
Synonym name
  • paired-like homeodomain transcription factor 3
  • homeobox protein PITX3
    • Synonym symbol(s) PTX3, MGC12766, CTTP4, ASGD1, ASMD, ASOD, CTPP4, CTRCT11, MGC12766
    DNA
    TYPE functioning gene
    STRUCTURE 11.29 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure a muscle-specific promoter situated between the first exon and exon 2 that contains the initiator ATG codon
    MAPPING cloned Y linked N status provisional
    Map cen - D10S1710 - D10S1240 - PITX3 - D10S1697 - D10S1267 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1407 31 302 - 1998 9620774
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
    Nervousbrainmidbrainsubstantia nigra   Homo sapiens
    Visualeyelens  highly Homo sapiens
     eyeanterior segment    Homo sapiens
     eyeuveachoroid  
     eyeextrinsic muscle    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
         
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text developing eye, midbrain region, tongue, incisor primordia, condensing mesenchyme around the sternum and vertebrae and in the head muscles (
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • POU specific and POU homeo domains (helix-turn-helix)
  • an OAR domain
    • HOMOLOGY
    interspecies ortholog to Pitx3, Mus musculus
    ortholog to Pitx3, Rattus norvegicus
    ortholog to pitx3, Danio rerio
    ortholog to PITX3, Pan troglodytes
    Homologene
    FAMILY
  • RIEG/PITX homeobox family
  • paired homeobox family
  • bicoid subfamily
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in lens formation during eye development
  • regulating gene expression and controlling cell differentiation
  • inducing the late maturation of midbrain dopamine neurons
  • transcription factor which has a key role in lens and anterior segment development
  • critical homeodomain transcription factor for the proper development and survival of mesodiencephalic dopaminergic (mdDA) neurons
  • critical mediator of GDNF-induced BDNF expression in nigrostriatal dopaminergic neurons
  • is critical for the survival of midbrain dopaminergic (mDA) neurons
  • transcription factor PITX3 is expressed selectively in midbrain dopaminergic neurons susceptible to neurodegenerative stress
  • key midbrain dopamine (mDA) regulators (NR4A2, PITX3, and LMX1A) play overlapping as well as distinct roles during neurogenesis and neurotransmitter phenotype determination of mDA neurons
  • is a bicoid-related homeodomain transcription factor critical for the development of the ocular lens, mesencephalic dopaminergic neurons and skeletal muscle
  • PITX2 and PITX3 are key regulators of the intracellular redox state preventing DNA damage as cells undergo differentiation
  • is specifically required for dopamine-related function and, if impaired, PITX3 could contribute during the pathogenesis of Parkinson disease
  • regulated levels of PITX3 and EN1 control the size and rostral/caudal-identity of the Mesodiencephalic dopaminergic (mdDA) neuronal population
    • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • lens formation during eye development
  • histogenesis and organogenesis
    • PATHWAY
    metabolism
    signaling sensory transduction/vision
    photoreception
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • nuclear receptor related 1, NR4A2 (
  • transcription regulatory role for FOXP1 on the PITX3 gene in mammalian stem cells
  • directly regulates FOXE3 during early lens development
  • LMO3 is a Ssubstantia nigra -specific co-regulator of PITX3-dependent transcription
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ASMD2 , CTPP2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in patients with Parkinson disease
    Susceptibility to PD dementia (PDD) and visuospatial dysfunction in idiopathic Parkinson disease (PD)
    Variant & Polymorphism SNP
  • common polymorphism in the PITX3 gene affects the risk of developing PD dementia (PDD) and visuospatial dysfunction in idiopathic Parkinson disease (PD)
    • Candidate gene
    Marker
  • PITX3 DNA methylation is an independent prognostic biomarker for overall survival in patients with head and neck squamous cell carcinoma
    • Therapy target
    ANIMAL & CELL MODELS
  • lack of Pitx3 in mice causes the preferential loss of substantia nigra pars compacta (SNc) mdDA neurons that are most affected in Parkinson disease
  • Pitx3-deficient mice exhibit severe but selective developmental loss of mDA neurons, with accompanying locomotor deficits resembling those seen in Parkinson's disease (PD) models
  • expression of truncated Pitx3 in the developing lens leads to microphthalmia and aphakia in mice
  • Pitx3(-/-) mice displayed abnormal motor activities, including impaired motor coordination and decreased locomotion