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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PITX3 Gene

protein-coding   GIFtS: 61
GCID: GC10M103979

Paired-Like Homeodomain 3

(Previous name: paired-like homeodomain transcription factor 3)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Paired-Like Homeodomain 31 2     CTPP42 5
Paired-Like Homeodomain Transcription Factor 31 3     CTRCT112
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 anterior segment mesenchymal dysgenesis, and cataract, posterior polar, 4, 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PITX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Nucleus (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75364

  • PITX3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PITX3 Protein Expression
    REFSEQ proteins: NP_005020.1  
    ENSEMBL proteins: 
     ENSP00000359019   ENSP00000439383  

    Human Recombinant Protein Products for PITX3: 
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    OriGene Protein Over-expression Lysate for PITX3
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    Novus Biologicals PITX3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PITX3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    PITX3 for ontologies           About GeneDecksing



    PITX3 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for PITX3 
    Cloud-Clone Corp. CLIAs for PITX3


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

    5 InterPro protein domains:
     IPR003654 OAR_dom
     IPR016233 Homeobox_Pitx/unc30
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     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


    PITX3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    PITX3 for ontologies           About GeneDecksing


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

         15/17 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Pitx3) (see all 17):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     nervous system  no phenotypic analysis  pigmentation  reproductive system  respiratory system 

    PITX3 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PITX3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PITX3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PITX3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PITX3 

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

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PITX3
    2 QIAGEN miScript miRNA 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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                         Customized lentivirus expression plasmids for stable overexpression of PITX3 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITX3


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PITX3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for PITX3 (O753643 ENSP000003590194) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTA1Q133303, ENSP000003336334I2D: score=1 STRING: ENSP00000333633
    NONOQ152333, ENSP000002760794I2D: score=1 STRING: ENSP00000276079
    SFPQP232463, ENSP000003497484I2D: score=1 STRING: ENSP00000349748
    PARK7Q994973, ENSP000003402784I2D: score=1 STRING: ENSP00000340278
    SOX15O602483I2D: score=1 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ISS--
    GO:0007626locomotory behavior IEA--

    PITX3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PITX3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about PITX3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PITX3
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate PITX3:
    hsa-miR-2114 hsa-miR-937
    SwitchGear 3'UTR luciferase reporter plasmidPITX3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PITX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PITX3
    Sirion Biotech Customized lentivirus for stable overexpression of PITX3 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PITX3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PITX3

    Additional mRNA sequence: 

    AF041339.1 BC011642.2 

    2 DOTS entries:

    DT.95097058  DT.92046893 

    7 AceView cDNA sequences:

    CD675151 NM_005029 BC011642 AF041339 BX283382 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PITX3 expression in normal human tissues (normalized intensities)      PITX3 embryonic expression: see
    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 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Embryonic Dopaminergic Neurons Ventral Tegmental Area
             Thalamus
             Substantia Nigra   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             440A-3
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Eye (Sensory Organs)
             sensory organ/eye/cornea   
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole

    See PITX3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PITX3

    SOURCE GeneReport for Unigene cluster: Hs.137568

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

        SABiosciences Expression via Pathway-Focused 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
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITX3

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PITX3 gene from 6/13 species (see all 13)    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 PITX36
    Uncharacterized protein
    70(a)
    1 ↔ 1
    6(16356822-16374750)
    lizard
    (Anolis carolinensis)
    Reptilia PITX36
    paired-like homeodomain 3
    71(a)
    1 ↔ 1
    GL343196.1(668930-673771)
    zebrafish
    (Danio rerio)
    Actinopterygii pitx36
    paired-like homeodomain transcription factor 3
    70(a)
    1 ↔ 1
    13(6659687-6677113)
    fruit fly
    (Drosophila melanogaster)
    Insecta Ptx13 specific RNA polymerase II
    transcription factor
    41(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-306
    Homeobox protein unc-30
    26(a)
    1 → many
    IV(13119096-13124387)


    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)
    About This Section
    Paralogs for PITX3 gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  HESX12  RHOXF22  PITX22  
    VSX22  RHOXF12  DMBX12  ESX12  GSC22  OTX12  RHOXF2B2  CRX2  
    4 SIMAP similar genes for PITX3 using alignment to 2 protein entries:     PITX3_HUMAN (see all proteins):
    PITX1    PITX2    POU6F1    ARX

    PITX3 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/213 SNPs in PITX3 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/22 diseases for PITX3 (see all 22):    About MalaCards
    anterior segment mesenchymal dysgenesis    cataract, posterior polar, 4, syndromic    cataracts, autosomal dominant    cataract-glaucoma
    cataract, posterior polar, 4    posterior polar cataract    anophthalmia/microphthalmia    aniridia
    cataract    peters anomaly    microphthalmia    autism spectrum disorder
    parkinson's disease    pituitary adenoma    blindness    glaucoma
    neuroblastoma    adenoma    mental retardation    retinitis

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

    PITX3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for PITX3 gene, integrated from 9 sources (see all 81):
    (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. (1998)
    2. Analysis of the Micro-RNA-133 and PITX3 genes in Park inson's disease. (PubMed id 20468068)1, 4 de Mena L....Alvarez V. (2010)
    3. Preliminary evidence that polymorphisms in dopamine-r elated transcription factors LMX1A, LMX1B and PITX3 are associated with schizop hrenia. (PubMed id 20570600)1, 4 Bergman O....Eriksson E. (2010)
    4. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PubMed id 19345444)1, 4 Haubenberger D....Zimprich A. (2009)
    5. 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. (2009)
    6. Transcription factor PITX3 gene in Parkinson's disease. (PubMed id 19394114)1, 4 Le W....Jankovic J. (2009)
    7. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (2009)
    8. PITX3 polymorphism is associated with early onset Parkinson's disease. (PubMed id 18420308)1, 4 Bergman O....Nissbrandt H. (2008)
    9. The transcription factor PITX3 is associated with sporadic Parkinson's disease. (PubMed id 17905480)1, 4 Fuchs J....Gasser T. (2007)
    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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5309 HGNC: 9006 AceView: PITX3 Ensembl:ENSG00000107859 euGenes: HUgn5309
    ECgene: PITX3 H-InvDB: PITX3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PITX3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PITX3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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