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PITX2 Gene

protein-coding   GIFtS: 66
GCID: GC04M111538

Paired-Like Homeodomain 2

(Previous name: paired-like homeodomain transcription factor 2)
(Previous symbols: IRID2, IHG2, RIEG, RIEG1, RGS)
  See 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 21 2     Brx12
RGS1 2 3 5     IGDS2
RIEG11 2 3 5     Otlx22
Paired-Like Homeodomain Transcription Factor 21 2 3     PTX22
RIEG1 2 3     RS2
IHG21 2     All1-Responsive Gene 12
IRID21 2     Pituitary Homeobox 22
Homeobox Protein PITX22 3     Rieg Bicoid-Related Homeobox Transcription Factor 12
ARP12 3     solurshin2
ALL1-Responsive Protein ARP12 3     Solurshin3
IDG22 5     RIEG Bicoid-Related Homeobox Transcription Factor3
IGDS22 5     

External Ids:    HGNC: 90051   Entrez Gene: 53082   Ensembl: ENSG000001640937   OMIM: 6015425   UniProtKB: Q996973   

Export aliases for PITX2 gene to outside databases

Previous GC identifers: GC04M111944 GC04M111820 GC04M111997 GC04M111896 GC04M111758 GC04M107270


(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 PITX2 Gene:
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins.
The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression.
This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is
involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator
involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with
Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein
in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively
spliced transcript variants encoding distinct isoforms have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for PITX2 Gene:
PITX2 (paired-like homeodomain 2) is a protein-coding gene. Diseases associated with PITX2 include iris hypoplasia, and axenfeld-rieger syndrome type 1. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSC.

UniProtKB/Swiss-Prot: PITX2_HUMAN, Q99697
Function: Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During
embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper
localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right
asymmetry the developing embryo (By similarity)

Gene Wiki entry for PITX2 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:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PITX2 gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPITX2 promoter sequence
   Search Chromatin IP Primers for PITX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PITX2


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

Entrez Gene cytogenetic band: 4q25   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q25

PITX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PITX2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M111538:  view genomic region     (about GC identifiers)

Start:
111,538,579 bp from pter      End:
111,563,279 bp from pter
Size:
24,701 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PITX2_HUMAN, Q99697 (See protein sequence)
Recommended Name: Pituitary homeobox 2  
Size: 317 amino acids; 35370 Da
3 PDB 3D structures from and Proteopedia for PITX2:
2L7F (3D)        2L7M (3D)        2LKX (3D)    
Secondary accessions: B2RA02 B3KXS0 O60578 O60579 O60580 Q3KQX9 Q9BY17
Alternative splicing: 3 isoforms:  Q99697-1   Q99697-2   Q99697-3   

Explore the universe of human proteins at neXtProt for PITX2: NX_Q99697

Explore proteomics data for PITX2 at MOPED

Post-translational modifications: 

  • Phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the
    half-life of CCND1 (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PITX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_000316.2  NP_001191326.1  NP_001191327.1  NP_001191328.1  NP_700475.1  NP_700476.1  

    ENSEMBL proteins: 
     ENSP00000304169   ENSP00000378097   ENSP00000347192   ENSP00000347004   ENSP00000378095  
     ENSP00000421454   ENSP00000424142   ENSP00000475617  

    PITX2 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for PITX2
    OriGene Protein Over-expression Lysate for PITX2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PITX2
    GenScript Custom Purified and Recombinant Proteins Services for PITX2
    Novus Biologicals PITX2 Proteins
    Novus Biologicals PITX2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PITX2

    PITX2 Antibody Products:

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    Novus Biologicals PITX2 Antibodies
    Abcam antibodies for PITX2 (Q3KQX9, Q99697)
    Cloud-Clone Corp. Antibodies for PITX2
    ThermoFisher Antibodies for PITX2
    LSBio Antibodies in human, mouse, rat for PITX2

    PITX2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PITX2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PITX2
    Cloud-Clone Corp. CLIAs for PITX2


    (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 Q99697

    ProtoNet protein and cluster: Q99697

    1 Blocks protein domain: IPB003654 Paired-like homeodomain protein

    UniProtKB/Swiss-Prot: PITX2_HUMAN, Q99697
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    PITX2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PITX2_HUMAN, Q99697
    Function: Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During
    embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper
    localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right
    asymmetry the developing embryo (By similarity)

         Genatlas biochemistry entry for PITX2:
    paired-like homeo domain 1,transcription factor 2,expressed in Rathke pouch at an early stage of pituitary
    development,in a subset of adult anterior pituitary cells,and in eye and brain tissues,playing a critical role in
    the intermediate steps controlling left-right asymetry,cardiac morphogenesis and embryonic rotation,binding
    POU1F1 with a resultant increase of binding to the bicoid homeo domain binding site

         Gene Ontology (GO): Selected molecular function terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IDA12612071
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA--
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity ----
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA16449236
         
    PITX2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PITX2:
     Decreased Wnt reporter activit  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 16 alleles(MGI details for Pitx2) (see all 22):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 

    PITX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PITX2: Pitx2tm2Sac Pitx2tm3.1Jfm Pitx2tm3Jfm Pitx2tm1Jfm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PITX2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PITX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PITX2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PITX2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat PITX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PITX2 (see all 39):
    hsa-miR-548j hsa-miR-140-5p hsa-miR-26a-2* hsa-miR-200a hsa-miR-374a hsa-miR-141 hsa-miR-489 hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidPITX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PITX2
    Predesigned siRNA for gene silencing in human, mouse, rat PITX2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PITX2

    Clone
    Products:
         
    OriGene clones in human, mouse for PITX2 (see all 17)
    OriGene ORF clones in mouse, rat for PITX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): PITX2 (NM_001204397)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PITX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PITX2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PITX2
    Browse ESI BIO Cell Lines and PureStem Progenitors for PITX2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITX2


    (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
    PITX2_HUMAN, Q99697: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IDA15385555
    GO:0005737cytoplasm IEA--

    PITX2 for ontologies           About GeneDecksing


    (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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    SuperPaths for PITX2 About    
    See pathways by source

    SuperPathContained pathways About
    1TGF-beta signaling pathway (KEGG)
    TGF-beta signaling pathway
    2Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    3Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway
    4Heart Development
    Heart Development

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for PITX2
        Heart Development
    Integrated Pancreatic Cancer Pathway
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription


    1 Kegg Pathway  (Kegg details for PITX2):
        TGF-beta signaling pathway


    PITX2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PITX2: 
              Stem Cell Transcription Factors in human mouse rat
              WNT Signaling Targets in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PITX2

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

    Selected Interacting proteins for PITX2 (Q996971, 2, 3 ENSP000003041694) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FOXC1Q129481, 3, ENSP000003702564EBI-1175243,EBI-1175253 I2D: score=1 STRING: ENSP00000370256
    YBX1P678091, 2, 3, ENSP000003616264EBI-1175211,EBI-354065 MINT-6823857 MINT-6823877 MINT-6823902 I2D: score=1 STRING: ENSP00000361626
    CTNNB1P352222, 3, ENSP000003444564MINT-6823877 I2D: score=3 STRING: ENSP00000344456
    HNRNPUQ008392, ENSP000002831794MINT-6823857 MINT-6823877 STRING: ENSP00000283179
    HNRNPKP619782, ENSP000003654394MINT-6823857 MINT-6823877 STRING: ENSP00000365439
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 61):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA16449236
    GO:0001569patterning of blood vessels IEA--
    GO:0001570vasculogenesis IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001764neuron migration IEA--

    PITX2 for ontologies           About GeneDecksing



    (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 PITX2

    Selected Novoseek inferred chemical compound relationships for PITX2 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 73.1 29 9371764 (2), 10840031 (1), 16735989 (1), 19513240 (1) (see all 24)
    ptx1 73 7 10859489 (4), 10372733 (3)
    gdp 60.1 6 19820068 (2), 12598904 (1), 10391901 (1), 11771419 (1) (see all 5)
    phosphatidylinositol-3,4,5-trisphosphate 46.9 3 11904384 (1), 15324308 (1), 10702285 (1)
    sterigmatocystin 40.5 1 14668367 (1)
    guanosine 34.3 5 10517644 (1), 10083744 (1), 11387333 (1), 9641915 (1) (see all 5)
    damgo 24.7 2 17634133 (1), 20002516 (1)
    brimonidine 20 1 11520900 (1)
    carbachol 19.5 2 14630933 (1), 9874691 (1)
    morphine 13.2 8 19630721 (2), 17634133 (2), 15734717 (1), 12604710 (1)



    PITX2 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PITX2 gene (6 alternative transcripts): 
    NM_000325.5  NM_001204397.1  NM_001204398.1  NM_001204399.1  NM_153426.2  NM_153427.2  

    Unigene Cluster for PITX2:

    Paired-like homeodomain 2
    Hs.643588  [show with all ESTs]
    Unigene Representative Sequence: NM_001204397
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306732(uc003iac.3 uc003iag.1) ENST00000394598 ENST00000355080
    ENST00000354925(uc003iaf.3 uc003iad.3 uc021xqr.1 uc003iae.3 uc021xqs.1)
    ENST00000607868 ENST00000394595 ENST00000511837 ENST00000556049 ENST00000511990
    ENST00000557119
    miRNA
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    Block miRNA regulation of human, mouse, rat PITX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PITX2 (see all 39):
    hsa-miR-548j hsa-miR-140-5p hsa-miR-26a-2* hsa-miR-200a hsa-miR-374a hsa-miR-141 hsa-miR-489 hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidPITX2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PITX2
    Predesigned siRNA for gene silencing in human, mouse, rat PITX2
    Clone
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    OriGene clones in human, mouse for PITX2 (see all 17)
    OriGene ORF clones in mouse, rat for PITX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): PITX2 (NM_001204397)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PITX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PITX2
    Primer
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    OriGene qPCR primer pairs and template standards for PITX2
    OriGene qSTAR qPCR primer pairs in human, mouse for PITX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PITX2
      QuantiTect SYBR Green Assays in human, mouse, rat PITX2
      QuantiFast Probe-based Assays in human, mouse, rat PITX2

    Additional mRNA sequence: 

    AF048720.1 AF048721.1 AF048722.1 AK127829.1 AK291591.1 AK313987.1 BC013998.2 BC106010.1 
    U69961.1 

    9 DOTS entries:

    DT.312486  DT.100781498  DT.100781496  DT.100829326  DT.121275288  DT.100701502  DT.121275305  DT.100773493 
    DT.121275286 

    Selected AceView cDNA sequences (see all 107):

    NM_153426 CR604884 CR602984 CD677642 BM673072 BX341665 BQ575039 BM888456 
    BP372081 AI015284 CR597942 BX344572 BU728060 BX280659 CD678897 BM689084 
    NM_000325 BC013998 CD678623 AK127829 AI203538 BE464010 CR610480 CR605855 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PITX2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
    SP1:                                      -                                 
    SP2:              -     -                 -                                 
    SP3:                                -     -                                 
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for PITX2

    (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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    PITX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGTAAAAT
    PITX2 Expression
    About this image


    PITX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 14 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
             Extraocular Muscles
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 6 entries
             Ectoderm Cells Branchial Arch 1
             Branchial Arch 1
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Cardiomyocytes Right Atrium
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Paraxial Mesoderm Cells Branchial Arch 1
             Maxillary Process
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Periocular Mesenchymal Cells Periocular Mesenchyme
             Periocular Mesenchyme
    PITX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PITX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643588
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PITX2: 
              Stem Cell Transcription Factors in human mouse rat
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              Homeobox (HOX) Genes in human mouse rat

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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 PITX2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pitx21 , 5 paired-like homeodomain transcription factor 21, 5 91.46(n)1
    97.84(a)1
      3 (57.84 cM)5
    187411  NM_001042502.21  NP_001035967.11 
     1291998785 
    chicken
    (Gallus gallus)
    Aves PITX21 paired-like homeodomain 2 85.08(n)
    92.9(a)
      395862  NM_205010.1  NP_990341.1 
    lizard
    (Anolis carolinensis)
    Reptilia PITX26
    paired-like homeodomain 2
    82(a)
    1 ↔ 1
    5(143911632-143980716)
    African clawed frog
    (Xenopus laevis)
    Amphibia pitx2-A2 paired-like homeodomain transcription factor 2 80.95(n)    AJ005787.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pitx2a2 paired-like homeodomain transcription factor 2a 81.55(n)   30164  AF132446.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ptx11 , 3 specific RNA polymerase II
    transcription factor3
    Ptx11
    47(a)3
    58.56(n)1
    57.8(a)1
      436641  NM_170531.41  NP_733410.21 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-306
    Protein UNC-30, isoform b
    30(a)
    1 → many
    IV(13119096-13124387) WBGene00006766


    ENSEMBL Gene Tree for PITX2 (if available)
    TreeFam Gene Tree for PITX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PITX2 gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  HESX12  VSX22  PROP12  
    PITX32  DMBX12  GSC22  CRX2  OTX12  MIXL12  
    Selected SIMAP similar genes for PITX2 using alignment to 5 protein entries:     PITX2_HUMAN (see all proteins) (see all similar genes):
    PITX1    OTX2    PHOX2B    HOXB1    RAX2    PITX3
    PRRX1    DLX6    HOPX    DUX4L2    DUX2    MSX1
    PAX4    TPRX2P    NKX2-5    DUX4    MNX1    HOXA4

    PITX2 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), 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 PITX2 (see all 540)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0587364
    Axenfeld-Rieger syndrome 1 (RIEG1)4--see VAR_0587362 P R mis40--------
    VAR_0037624
    Iridogoniodysgenesis 2 (IRID2)4--see VAR_0037622 R W mis40--------
    VAR_0037654
    Iridogoniodysgenesis 2 (IRID2)4--see VAR_0037652 R H mis40--------
    VAR_0037664
    Axenfeld-Rieger syndrome 1 (RIEG1)4--see VAR_0037662 R P mis40--------
    VAR_0350294
    Axenfeld-Rieger syndrome 1 (RIEG1)4--see VAR_0350292 V L mis40--------
    VAR_0587354
    Axenfeld-Rieger syndrome 1 (RIEG1)4--see VAR_0587352 P L mis40--------
    VAR_0587384
    Axenfeld-Rieger syndrome 1 (RIEG1)4--see VAR_0587382 R C mis40--------
    VAR_0587394
    Axenfeld-Rieger syndrome 1 (RIEG1)4--see VAR_0587392 L V mis40--------
    VAR_0037634
    Axenfeld-Rieger syndrome 1 (RIEG1)4--see VAR_0037632 L Q mis40--------
    VAR_0587404
    Axenfeld-Rieger syndrome 1 (RIEG1)4--see VAR_0587402 N T mis40--------

    HapMap Linkage Disequilibrium report for PITX2 (111538579 - 111563279 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PITX2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2728138CNV Deletion23290073
    nsv4464CNV Insertion18451855
    nsv292028CNV Loss16902084
    nsv830036CNV Gain17160897

    Human Gene Mutation Database (HGMD): PITX2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PITX2
    DNA2.0 Custom Variant and Variant Library Synthesis for PITX2

    (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.)
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    OMIM gene information: 601542   
    OMIM disorders: 180500  137600  180550  604229  
    UniProtKB/Swiss-Prot: PITX2_HUMAN, Q99697
  • Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]: An autosomal dominant disorder of morphogenesis that
    results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in
    approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia,
    hypodontia, anal stenosis, redundant periumbilical skin. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Iridogoniodysgenesis 2 (IRID2) [MIM:137600]: Autosomal dominant inherited disease. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Peters anomaly (PAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior
    corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central
    aspect of the posterior cornea. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Ring dermoid of cornea (RDC) [MIM:180550]: An ocular disorder characterized by bilateral annular limbal
    dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for PITX2 (see all 60):    
    About MalaCards
    iris hypoplasia    axenfeld-rieger syndrome type 1    iridogoniodysgenesis, dominant type    iridogoniodysgenesis syndrome
    ring dermoid of cornea    fuchs' endothelial dystrophy    dermoids of cornea    iris hypoplasia and glaucoma
    renal coloboma syndrome    iridogoniodysgenesis, type 1    axenfeld-rieger syndrome    anodontia
    early-onset glaucoma    peters plus syndrome    cataract-glaucoma    anterior segment mesenchymal dysgenesis
    atrial fibrillation, familial, 9    transposition of the great arteries    omphalocele    anophthalmia/microphthalmia

    3 diseases from the University of Copenhagen DISEASES database for PITX2:
    Axenfeld-Rieger syndrome     Glaucoma     Aniridia

    PITX2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PITX2 gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rieger syndrome 95.2 40 11821690 (3), 14630904 (3), 11284764 (2), 14991915 (2) (see all 27)
    rieg 94.2 39 9618168 (6), 10051017 (3), 10420192 (2), 9347917 (2) (see all 15)
    iridogoniodysgenesis syndrome 88.8 2 9618168 (1), 10937553 (1)
    anomaly peters 78.2 5 10051017 (3), 16735991 (1), 18498376 (1)
    hypoplasia 59.3 7 15761027 (2), 18331556 (1), 10537763 (1), 9328475 (1) (see all 6)
    glaucoma 57.8 20 17197537 (5), 17167399 (3), 11880716 (1), 19509472 (1) (see all 11)
    congenital malformation 53.5 8 16449236 (2), 11487566 (1), 10937553 (1), 14985297 (1) (see all 7)
    hypodontia 50.4 1 14630904 (1)
    developmental disabilities 24.3 1 10958652 (1)
    heart defects congenital 13.8 1 18697220 (1)

    GeneTests: PITX2
    GeneReviews: PITX2
    Genetic Association Database (GAD): PITX2
    Human Genome Epidemiology (HuGE) Navigator: PITX2 (11 documents)

    Export disorders for PITX2 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 PITX2 gene, integrated from 10 sources (see all 353):
    (articles sorted by number of sources associating them with PITX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene. (PubMed id 9539779)1, 2, 3, 9 Arakawa H.... Croce C.M. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. A mutation in the RIEG1 gene associated with Peters' anomaly. (PubMed id 10051017)1, 2, 4, 9 Doward W....Black G.C.M. (J. Med. Genet. 1999)
    3. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. (PubMed id 11487566)1, 2, 9 Priston M.... Heon E. (Hum. Mol. Genet. 2001)
    4. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. (PubMed id 9618168)1, 2, 9 Kulak S.C.... Walter M.A. (Hum. Mol. Genet. 1998)
    5. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. (PubMed id 16936096)1, 2, 9 Weisschuh N....Gramer E. (Invest. Ophthalmol. Vis. Sci. 2006)
    6. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. (PubMed id 10937553)2, 4, 9 Perveen R.... Black G.C.M. (Invest. Ophthalmol. Vis. Sci. 2000)
    7. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (PubMed id 11774072)1, 4, 9 Vincent A.L.... Heon E. (Am. J. Hum. Genet. 2002)
    8. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. (PubMed id 8944018)1, 2, 9 Semina E.V.... Murray J.C. (Nat. Genet. 1996)
    9. Four novel mutations in the PITX2 gene in patients with Axenfeld- Rieger syndrome. (PubMed id 12381896)1, 2, 9 Phillips J.C. (Ophthalmic Res. 2002)
    10. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. (PubMed id 9437321)1, 2, 9 Alward W.L.M.... Murray J.C. (Am. J. Ophthalmol. 1998)

    (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: 5308 HGNC: 9005 AceView: PITX2 Ensembl:ENSG00000164093 euGenes: HUgn5308
    ECgene: PITX2 Kegg: 5308 H-InvDB: PITX2

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for PITX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PITX2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PITX2[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 PITX2 gene:
    Search GeneIP for patents involving PITX2

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



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