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PITX3 Gene

protein-coding   GIFtS: 60
GCID: GC10M103979

Paired-Like Homeodomain 3

(Previous names: paired-like homeodomain transcription factor 3, anterior...)
(Previous symbol: ASMD)
  See PITX3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Paired-Like Homeodomain 31 2     CTPP42 5
ASMD1 2     CTRCT112 5
Paired-Like Homeodomain Transcription Factor 31 3     Anterior Segment Mesenchymal Dysgenesis1
Homeobox Protein PITX32 3     Pituitary Homeobox 32
PTX32 3     

External Ids:    HGNC: 90061   Entrez Gene: 53092   Ensembl: ENSG000001078597   OMIM: 6026695   UniProtKB: O753643   

Export aliases for PITX3 gene to outside databases

Previous GC identifers: GC10M102883 GC10M103223 GC10M104121 GC10M103654 GC10M097622


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PITX3 Gene:
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins.
Members of this family act as transcription factors. This protein is involved in lens formation during eye
development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and
congenital cataracts. (provided by RefSeq, Jul 2008)

GeneCards Summary for PITX3 Gene:
PITX3 (paired-like homeodomain 3) is a protein-coding gene. Diseases associated with PITX3 include cataract 11, multiple types, and cataract 11, syndromic. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSC.

UniProtKB/Swiss-Prot: PITX3_HUMAN, O75364
Function: Transcriptional regulator which is important for the differentiation and maintenance of
meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during
development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates
NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for
development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT
which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed
deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the
maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the
temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and
negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and
CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity)

Gene Wiki entry for PITX3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the PITX3 gene promoter:
         C/EBPbeta   POU3F1   NF-AT   NF-AT2   HOXA5   c-Myb   Cart-1   Msx-1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPITX3 promoter sequence
   Search Chromatin IP Primers for PITX3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PITX3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.32   Ensembl cytogenetic band:  10q24.32   HGNC cytogenetic band: 10q24.32

PITX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PITX3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M103979:  view genomic region     (about GC identifiers)

Start:
103,989,943 bp from pter      End:
104,001,231 bp from pter
Size:
11,289 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PITX3_HUMAN, O75364 (See protein sequence)
Recommended Name: Pituitary homeobox 3  
Size: 302 amino acids; 31832 Da
Subunit: Interacts with SFPQ (By similarity)
Secondary accessions: Q5VZL2

Explore the universe of human proteins at neXtProt for PITX3: NX_O75364

Explore proteomics data for PITX3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PITX3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005020.1  
    ENSEMBL proteins: 
     ENSP00000359019   ENSP00000439383  

    PITX3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PITX3

     
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    antibodies-online proteins for PITX3 (4 products) 

     
    antibodies-online peptides for PITX3

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRD: Homeoboxes / PRD class

    5 InterPro protein domains:
     IPR003654 OAR_dom
     IPR016233 Homeobox_Pitx/unc30
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry O75364

    ProtoNet protein and cluster: O75364

    1 Blocks protein domain: IPB003654 Paired-like homeodomain protein

    UniProtKB/Swiss-Prot: PITX3_HUMAN, O75364
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with PITX3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PITX3_HUMAN, O75364
    Function: Transcriptional regulator which is important for the differentiation and maintenance of
    meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during
    development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates
    NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for
    development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT
    which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed
    deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the
    maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the
    temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and
    negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and
    CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity)

         Genatlas biochemistry entry for PITX3:
    paired-like homeo domain transcription factor 3,expressed in lens with later expression extending to the
    midbrain,tongue,incisors,sternum,vertebrae and limbs

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with PITX3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PITX3:
     Decreased POU5F1-GFP protein e 

         Selected MGI mutant phenotypes (inferred from 8 alleles(MGI details for Pitx3) (see all 17):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     nervous system  no phenotypic analysis  pigmentation  reproductive system  respiratory system 

    Find genes that share phenotypes with PITX3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pitx3tm1.1Jdr for PITX3

       genOway: Develop your customized and physiologically relevant rodent model for PITX3

    miRNA
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    miRTarBase miRNAs that target PITX3:
    hsa-mir-133b (MIRT002354)

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    2 qRT-PCR Assays for microRNAs that regulate PITX3:
    hsa-miR-2114 hsa-miR-937
    SwitchGear 3'UTR luciferase reporter plasmidPITX3 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for PITX3 

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    eBioscience FlowRNA Probe Sets ( VA1-11931) for PITX3 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PITX3_HUMAN, O75364: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--

    Find genes that share ontologies with PITX3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including PITX3: 
              Stem Cell Transcription Factors in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PITX3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PITX3 (O753643 ENSP000003590194) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTA1Q133303, ENSP000003336334I2D: score=1 STRING: ENSP00000333633
    NONOQ152333, ENSP000002760794I2D: score=1 STRING: ENSP00000276079
    SFPQP232463, ENSP000003497484I2D: score=1 STRING: ENSP00000349748
    SOX15O602483, ENSP000003553544I2D: score=1 STRING: ENSP00000355354
    PARK7Q994973, ENSP000003402784I2D: score=1 STRING: ENSP00000340278
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002088lens development in camera-type eye ISS--
    GO:0002089lens morphogenesis in camera-type eye ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ISS--
    GO:0007626locomotory behavior IEA--

    Find genes that share ontologies with PITX3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PITX3

    3 Novoseek inferred chemical compound relationships for PITX3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ptx1 85.6 5 10372733 (3), 10859489 (2)
    dopamine 60.3 15 16477036 (3), 12846974 (1), 19463914 (1), 19754401 (1) (see all 10)
    tyrosine 34.6 6 17184956 (3), 12846972 (1), 19750538 (1)



    Find genes that share compounds with PITX3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PITX3 gene: 
    NM_005029.3  

    Unigene Cluster for PITX3:

    Paired-like homeodomain 3
    Hs.137568  [show with all ESTs]
    Unigene Representative Sequence: NM_005029
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370002(uc001kuu.1) ENST00000539804
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate PITX3:
    hsa-miR-2114 hsa-miR-937
    SwitchGear 3'UTR luciferase reporter plasmidPITX3 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF041339.1 BC011642.2 

    2 DOTS entries:

    DT.95097058  DT.92046893 

    7 AceView cDNA sequences:

    CD675151 NM_005029 BC011642 BX283382 AF041339 BI114852 BF308662 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PITX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCCCTCCG
    PITX3 Expression
    About this image


    PITX3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Midbrain tegmentum
             Neuronal-like cells
     
     Neurons
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Dopaminergic neuron-like cells
     
     Dopaminergic Neurons (Nervous System)    fully expand to see all 7 entries
             Dopaminergic neuron-like cells
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Anterior Lens Epithelial Cells Lens
             Lens
     
     Epithelial Cells
             Anterior Lens Epithelial Cells Lens
    PITX3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PITX3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.137568

    UniProtKB/Swiss-Prot: PITX3_HUMAN, O75364
    Tissue specificity: Highly expressed in developing eye lens

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PITX3: 
              Stem Cell Transcription Factors in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PITX3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pitx31 , 5 paired-like homeodomain transcription factor 31, 5 89.74(n)1
    98.34(a)1
      19 (38.75 cM)5
    187421  NM_008852.41  NP_032878.11 
     461356855 
    chicken
    (Gallus gallus)
    Aves PITX31 paired-like homeodomain 3 70.5(n)
    70.73(a)
      423756  XM_421631.4  XP_421631.2 
    lizard
    (Anolis carolinensis)
    Reptilia PITX36
    paired-like homeodomain 3
    71(a)
    1 ↔ 1
    GL343196.1(668930-673771)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pitx31 paired-like homeodomain 3 66.55(n)
    70.88(a)
      100496690  XM_002935761.2  XP_002935807.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pitx31 paired-like homeodomain transcription factor 3 70.2(n)
    72.79(a)
      402974  NM_205675.2  NP_991238.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ptx13 specific RNA polymerase II
    transcription factor
    41(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-306
    Protein UNC-30, isoform b
    29(a)
    1 → many
    IV(13119096-13124387) WBGene00006766


    ENSEMBL Gene Tree for PITX3 (if available)
    TreeFam Gene Tree for PITX3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PITX3 gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  HESX12  PITX22  VSX22  
    PROP12  DMBX12  GSC22  CRX2  OTX12  MIXL12  
    4 SIMAP similar genes for PITX3 using alignment to 2 protein entries:     PITX3_HUMAN (see all proteins):
    PITX1    PITX2    POU6F1    ARX

    Find genes that share paralogs with PITX3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PITX3 (see all 213)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0037674
    Cataract 11, multiple types (CTRCT11)4--see VAR_0037672 S N mis40--------
    rs1048941751,2
    Cpathogenic1104354344(-) CCGGAA/GCCCTG 2 N S mis10--------
    rs583015271,2
    C--104002685(+) AAAAA-/AGAGCC 1 -- us2k10--------
    rs1929629221,2
    --104352005(+) GAGGCA/GCACAC 1 -- ds50010--------
    rs1847356321,2
    --104352008(+) GCACAC/TACACA 1 -- ds50010--------
    rs728456341,2
    C--104352100(+) AGCCCC/TTCATA 1 -- ds50010--------
    rs1387349931,2
    C--104352143(+) GTAAC-/TTTATCT 1 -- ds50010--------
    rs1409987991,2
    C--104352259(+) CGGCT-/GGGG  
      GGGGGG
    GTGGC
    1 -- ds50010--------
    rs107866621,2
    C,A--104352356(+) GTAGGC/GGGGGT 1 -- ds50018Minor allele frequency- G:0.36NA WA CSA EA 368
    rs1445713601,2
    --104352478(+) TGAATC/GATCAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PITX3 (103989943 - 104001231 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PITX3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv895968CNV Loss21882294

    Human Gene Mutation Database (HGMD): PITX3
    Locus Specific Mutation Databases (LSDB): PITX3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PITX3
    DNA2.0 Custom Variant and Variant Library Synthesis for PITX3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602669   
    OMIM disorders: 107250  610623  
    UniProtKB/Swiss-Prot: PITX3_HUMAN, O75364
  • Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]: A range of developmental defects in
    structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest
    derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during
    eye development. Different mature anterior segment anomalies may exist alone or in combination, and are
    associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic
    spectrum of anterior segment anomalies include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger
    anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Cataract 11, multiple types (CTRCT11) [MIM:610623]: An opacification of the crystalline lens of the eye
    that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a
    portion of the lens, and may be static or progressive. CTRCT11 includes posterior polar cataract, among others.
    Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some
    CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for PITX3:    
    About MalaCards
    cataract 11, multiple types    cataract 11, syndromic    cataracts, autosomal dominant    anterior segment mesenchymal dysgenesis
    cataract-glaucoma    pitx3-related anterior segment mesenchymal dysgenesis    posterior polar cataract    corticosteroid-binding globulin deficiency
    cataract 6, multiple types    anophthalmia/microphthalmia    corticobasal degeneration    parkinson's disease

    3 diseases from the University of Copenhagen DISEASES database for PITX3:
    Posterior polar cataract     Parkinson's disease     Microphthalmia

    Find genes that share disorders with PITX3           About GenesLikeMe

    7 Novoseek inferred disease relationships for PITX3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anterior segment mesenchymal dysgenesis 94.9 4 18989383 (2), 16565358 (1), 9620774 (1)
    rieg 83.9 3 9620774 (2)
    congenital cataract 70.7 2 17888164 (1), 9620774 (1)
    aphakia 70.4 4 9328475 (2), 19007884 (1), 10861284 (1)
    microphthalmia 68.8 8 20084168 (3), 20033184 (2), 16565358 (1), 17888164 (1)
    parkinson disease 64.5 3 17350004 (1), 18049867 (1), 19144721 (1)
    cataract 52.8 8 16565358 (3), 18989383 (2), 15665340 (2), 9620774 (1)

    GeneTests: PITX3
    GeneReviews: PITX3
    Genetic Association Database (GAD): PITX3
    Human Genome Epidemiology (HuGE) Navigator: PITX3 (9 documents)

    Export disorders for PITX3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PITX3 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with PITX3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel homeobox gene PITX3 is mutated in families with autosomal- dominant cataracts and ASMD. (PubMed id 9620774)1, 2, 3, 9 Semina E.V....Murray J.C. (Nat. Genet. 1998)
    2. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PubMed id 19345444)1, 4 Haubenberger D....Zimprich A. (Neurobiol. Aging 2011)
    3. Transcription factor PITX3 gene in Parkinson's disease. (PubMed id 19394114)1, 4 Le W....Jankovic J. (Neurobiol. Aging 2011)
    4. Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease. (PubMed id 20468068)1, 4 de Mena L....Alvarez V. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    5. PITX3 polymorphism is associated with early onset Parkinson's disease. (PubMed id 18420308)1, 4 Bergman O....Nissbrandt H. (Neurobiol. Aging 2010)
    6. Preliminary evidence that polymorphisms in dopamine-related transcription factors LMX1A, LMX1B and PITX3 are associated with schizophrenia. (PubMed id 20570600)1, 4 Bergman O....Eriksson E. (amp 2010)
    7. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    8. The transcription factor PITX3 is associated with sporadic Parkinson's disease. (PubMed id 17905480)1, 4 Fuchs J....Gasser T. (Neurobiol. Aging 2009)
    9. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    10. Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). (PubMed id 15286169)1, 2 Berry V....Bhattacharya S.S. (J. Med. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5309 HGNC: 9006 AceView: PITX3 Ensembl:ENSG00000107859 euGenes: HUgn5309
    ECgene: PITX3 H-InvDB: PITX3

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PITX3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PITX3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PITX3 gene:
    Search GeneIP for patents involving PITX3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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