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OTX2 Gene

protein-coding   GIFtS: 63
GCID: GC14M057267

Orthodenticle Homeobox 2

(Previous name: orthodenticle homolog 2 (Drosophila))
  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
Orthodenticle Homeobox 21 2
Orthodenticle Homolog 22 3
CPHD62 5
MCOPS52 5
Orthodenticle Homolog 2 (Drosophila)1
Homeobox Protein OTX22

External Ids:    HGNC: 85221   Entrez Gene: 50152   Ensembl: ENSG000001655887   OMIM: 6000375   UniProtKB: P322433   

Export aliases for OTX2 gene to outside databases

Previous GC identifers: GC14M054592 GC14M051063 GC14M055257 GC14M056337 GC14M037431


(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 OTX2 Gene:
This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded
protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development.
The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor
cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary
hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma.
Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene
are known to exist on chromosomes two and nine. (provided by RefSeq, Jul 2012)

GeneCards Summary for OTX2 Gene:
OTX2 (orthodenticle homeobox 2) is a protein-coding gene. Diseases associated with OTX2 include otx2-related combined pituitary hormone deficiency, and microphthalmia syndromic 5. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSC.

UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243
Function: Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target
sequence (BTS): 5'-TCTAATCCC-3'

Gene Wiki entry for OTX2 (Orthodenticle homeobox 2) 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_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the OTX2 gene promoter:
         AP-1   ATF-2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOTX2 promoter sequence
   Search Chromatin IP Primers for OTX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OTX2


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

Entrez Gene cytogenetic band: 14q22.3   Ensembl cytogenetic band:  14q22.3   HGNC cytogenetic band: 14q22.3

OTX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OTX2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M057267:  view genomic region     (about GC identifiers)

Start:
57,267,425 bp from pter      End:
57,277,197 bp from pter
Size:
9,773 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243 (See protein sequence)
Recommended Name: Homeobox protein OTX2  
Size: 289 amino acids; 31636 Da
Developmental stage: Embryo. Expression in the retina peaks at fetal days 48-54. At 6-, 8- and 10-week old, in the
retina, the expression is strongest in the retinal pigment epithelium (at protein level)
Secondary accessions: B2RAN5 Q6GTV3 Q9HAW3 Q9P2R1
Alternative splicing: 2 isoforms:  P32243-1   P32243-2   

Explore the universe of human proteins at neXtProt for OTX2: NX_P32243

Explore proteomics data for OTX2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See OTX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001257452.1  NP_001257453.1  NP_001257454.1  NP_068374.1  NP_758840.1  

    ENSEMBL proteins: 
     ENSP00000343819   ENSP00000386185   ENSP00000452336   ENSP00000474486   ENSP00000451357  
     ENSP00000450468   ENSP00000451272  

    OTX2 Human Recombinant Protein Products:

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    OriGene Purified Proteins for OTX2
    OriGene Protein Over-expression Lysate for OTX2
    OriGene Custom MassSpec
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    Novus Biologicals OTX2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OTX2

    OTX2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of OTX2
    R&D Systems Antibodies for OTX2
    Cell Signaling Technology (CST) Antibodies for OTX2 
    OriGene Antibodies for OTX2
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    Abcam antibodies for OTX2
    Cloud-Clone Corp. Antibodies for OTX2
    ThermoFisher Antibody for OTX2
    LSBio Antibodies in human, mouse, rat for OTX2

    OTX2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems Proteome Profiler Antibody Arrays for OTX2
    GenScript Custom Assay Services for OTX2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for OTX2
    Cloud-Clone Corp. CLIAs for OTX2


    (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

    Selected InterPro protein domains (see all 6):
     IPR003022 Otx2_TF
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like
     IPR003025 Otx_TF

    Graphical View of Domain Structure for InterPro Entry P32243

    ProtoNet protein and cluster: P32243

    2 Blocks protein domains:
    IPB003022 Otx2 transcription factor signature
    IPB003025 Otx transcription factor signature


    UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    OTX2 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: OTX2_HUMAN, P32243
    Function: Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target
    sequence (BTS): 5'-TCTAATCCC-3'

         Genatlas biochemistry entry for OTX2:
    Drosophila orthodenticle (otd) homolog,paired-like homeo domain encoding gene 2,expressed in the developing brain
    of the anterior neural plate,in mouse embryo,playing a major role in gastrulation,essential for the early
    specification of neuroectoderm destined to become fore midbrain

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0005515protein binding IPI--
    GO:0008190eukaryotic initiation factor 4E binding TAS15705863
         
    OTX2 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 32 alleles(MGI details for Otx2) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  normal  pigmentation 

    OTX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for OTX2: Otx2tm10Asim Otx2tm4.2Sia Otx2tm1Sia Otx2tm8Asim Otx2tm6Sia Otx2tm1.2Tlam
                                                         Otx2tm6.1Asim Otx2tm5Sia Otx2tm1Sla Otx2tm7Sia Otx2tm2Sla

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OTX2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for OTX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OTX2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OTX2

    miRNA
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    miRTarBase miRNAs that target OTX2:
    hsa-mir-181a-5p (MIRT025137)

    Block miRNA regulation of human, mouse, rat OTX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate OTX2 (see all 57):
    hsa-miR-2052 hsa-miR-142-5p hsa-miR-548j hsa-miR-4328 hsa-miR-1197 hsa-miR-548k hsa-miR-128 hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmidOTX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for OTX2
    Predesigned siRNA for gene silencing in human, mouse, rat OTX2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for OTX2

    Clone
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    OriGene clones in human, mouse for OTX2 (see all 11)
    OriGene ORF clones in mouse, rat for OTX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): OTX2 (NM_021728)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTX2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for OTX2
    Browse ESI BIO Cell Lines and PureStem Progenitors for OTX2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTX2


    (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
    OTX2_HUMAN, P32243: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0030426growth cone IDA16267555
    GO:0043234protein complex IDA--

    OTX2 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 OTX2 About    
    See pathways by source

    SuperPathContained pathways About
    1Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    2Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    3TP53 network
    TP53 network
    4Selected targets of Oct 3 4
    Selected targets of Oct 3 4
    5Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for OTX2
        Wnt / Hedgehog / Notch
    Neuroscience

    1 BioSystems Pathway for OTX2
        TP53 network



    OTX2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including OTX2: 
              Cell Lineage Identification in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for OTX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for OTX2 (P322432, 3 ENSP000003438194) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2861485 I2D: score=3 STRING: ENSP00000244769
    DMBX1Q8NFW53, ENSP000003531324I2D: score=2 STRING: ENSP00000353132
    LHX1P487423, ENSP000002544574I2D: score=2 STRING: ENSP00000254457
    MITFO750303, ENSP000002956004I2D: score=1 STRING: ENSP00000295600
    TLE4Q047273, ENSP000003657354I2D: score=1 STRING: ENSP00000365735
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001708cell fate specification IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006461protein complex assembly IDA--
    GO:0007275multicellular organismal development ----

    OTX2 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 OTX2

    1 Novoseek inferred chemical compound relationship for OTX2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligonucleotide 2.4 2 12559959 (1)



    OTX2 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,
    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 OTX2 gene (5 alternative transcripts): 
    NM_001270523.1  NM_001270524.1  NM_001270525.1  NM_021728.3  NM_172337.2  

    Unigene Cluster for OTX2:

    Orthodenticle homeobox 2
    Hs.288655  [show with all ESTs]
    Unigene Representative Sequence: NM_001270524
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339475(uc001xcp.3 uc021rtm.1 uc010aou.3 uc001xcq.3)
    ENST00000408990 ENST00000555006 ENST00000554788 ENST00000554845 ENST00000554559
    ENST00000555804
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat OTX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate OTX2 (see all 57):
    hsa-miR-2052 hsa-miR-142-5p hsa-miR-548j hsa-miR-4328 hsa-miR-1197 hsa-miR-548k hsa-miR-128 hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmidOTX2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for OTX2
    Predesigned siRNA for gene silencing in human, mouse, rat OTX2
    Clone
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    OriGene clones in human, mouse for OTX2 (see all 11)
    OriGene ORF clones in mouse, rat for OTX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): OTX2 (NM_021728)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTX2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for OTX2
    OriGene qSTAR qPCR primer pairs in human, mouse for OTX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OTX2
      QuantiTect SYBR Green Assays in human, mouse, rat OTX2
      QuantiFast Probe-based Assays in human, mouse, rat OTX2

    Additional mRNA sequence: 

    AB593057.1 AB593058.1 AF093138.1 AK314271.1 BC032579.1 NR_073034.1 

    5 DOTS entries:

    DT.307876  DT.40263755  DT.100025424  DT.100755238  DT.97842872 

    Selected AceView cDNA sequences (see all 59):

    NM_021728 BM903863 BM799551 BU162097 BM676861 BE781530 BM698799 BQ432088 
    BU741661 BQ424035 BU176852 BC032579 BE779765 NM_172337 CA397809 BM724395 
    BQ639181 AA334301 BM564760 BU187294 BM904035 BU154244 BE778281 H08255 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for OTX2 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e
    SP1:                    -     -           -     -                                                         
    SP2:                    -     -           -     -           -                                             
    SP3:                    -     -           -     -           -     -     -                                 
    SP4:                                      -     -           -                                             
    SP5:                                      -     -                                                         


    ECgene alternative splicing isoforms for OTX2

    (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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    OTX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCAACTGGT
    OTX2 Expression
    About this image


    OTX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 24) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 17 entries
             Late Photoreceptor Precursor Cells Retinal Neuroblastic Layer
             Retinal Pigmented Epithelium
             Retinal progenitor spheres
     
     Neural Tube (Nervous System)    fully expand to see all 21 entries
             Meso-diencephalic Dopaminergic Precursor Cells Diencephalic Ventricular Zone
             Mesencephalic Ventricular Zone
             Otx2+Corin+ cells
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Midbrain tegmentum
             N2/LSB/S/F8/CHIR-induced cells
     
     Neurons
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Peripheral sensory neuron-like cells
     
     NULL (Uncategorized)    fully expand to see all 7 entries
             Pigmented epithelium cell clusters
    OTX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OTX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.288655

    UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243
    Tissue specificity: Expressed in brain

        Pathway & Disease-focused RT2 Profiler PCR Arrays including OTX2: 
              Cell Lineage Identification in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for OTX2
    OriGene qSTAR qPCR primer pairs in human, mouse for OTX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OTX2
    QuantiTect SYBR Green Assays in human, mouse, rat OTX2
    QuantiFast Probe-based Assays in human, mouse, rat OTX2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTX2

    (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 OTX2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Otx21 , 5 orthodenticle homolog 2 (Drosophila)5
    orthodenticle homolog 21
    94.84(n)1
    99.33(a)1
      14 (25.36 cM)5
    184241  NM_001286481.11  NP_001273410.11 
     486576795 
    chicken
    (Gallus gallus)
    Aves OTX26
    Gallus gallus orthodenticle homeobox 2 (OTX2), mRN...
    99(a)
    1 ↔ 1
    5(55680636-55688787)
    lizard
    (Anolis carolinensis)
    Reptilia OTX26
    orthodenticle homeobox 2
    95(a)
    1 ↔ 1
    AAWZ02037392(13248-13886)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.116722 X.laevis mRNA for homeobox protein 81.38(n)    Z46972.1 
    zebrafish
    (Danio rerio)
    Actinopterygii otx22 orthodenticle homolog 2 81.23(n)   30501  NM_131251.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta oc6
    ocelliless
    23(a)
    1 → many
    X(8524192-8544714)
    worm
    (Caenorhabditis elegans)
    Secernentea ttx-16
    Protein TTX-1, isoform a
    22(a)
    many ↔ many
    V(20053733-20064174) WBGene00006652


    ENSEMBL Gene Tree for OTX2 (if available)
    TreeFam Gene Tree for OTX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OTX2 gene
    GSC2  PITX12  UNCX2  VSX12  HESX12  PITX22  VSX22  PROP12  
    PITX32  DMBX12  GSC22  CRX2  MIXL12  OTX12  
    12 SIMAP similar genes for OTX2 using alignment to 6 protein entries:     OTX2_HUMAN (see all proteins):
    PRRX1    SHOX2    PITX2    PITX1    NKX2-5    CRX
    OTX1    PHOX2B    MNX1    DUX2    POU6F1    RAX2

    OTX2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for OTX2
    PGOHUM00000240974 PGOHUM00000236214


    (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 OTX2 (see all 234)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0293564
    Microphthalmia, syndromic, 5 (MCOPS5)4--see VAR_0293562 P A mis40--------
    VAR_0659524
    Microphthalmia, syndromic, 5 (MCOPS5)4--see VAR_0659522 R S mis40--------
    VAR_0293544
    Microphthalmia, syndromic, 5 (MCOPS5)4--see VAR_0293542 R G mis40--------
    VAR_0659534
    Pituitary hormone deficiency, combined, 6 (CPHD6)4--see VAR_0659532 N S mis40--------
    VAR_0293554
    Microphthalmia, syndromic, 5 (MCOPS5)4--see VAR_0293552 P T mis40--------
    rs1048944651,2
    Cpathogenic138252113(-) ACCTAA/TACTCA 12 * Y stg10--------
    rs1048944641,2
    Cpathogenic138252385(-) AGAATC/GGAAGA 12 R G mis10--------
    rs1982401,2
    C,F,O,A,H--38250254(-) TGATTT/CCTGAA 7 -- int124Minor allele frequency- C:0.14NA EA NS WA 2478
    rs349973331,2
    C--38250328(+) AAGTT-/AAAAAA 7 -- int10--------
    rs1982391,2
    C,A,H--38250349(-) ATTTGG/ATTAAG 7 -- int18Minor allele frequency- A:0.08NS WA NA EA 486

    HapMap Linkage Disequilibrium report for OTX2 (57267425 - 57277197 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for OTX2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv901981CNV Loss21882294
    dgv1941n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): OTX2
    Locus Specific Mutation Databases (LSDB): OTX2

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing OTX2
    DNA2.0 Custom Variant and Variant Library Synthesis for OTX2

    (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: 600037   
    OMIM disorders: 610125  613986  
    UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243
  • Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]: Patients manifest unilateral or bilateral
    microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma,
    microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus
    callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye
    formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues
    (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include
    non-ocular abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986]: Combined pituitary hormone deficiency is
    defined as the impaired production of growth hormone and one or more of the other five anterior pituitary
    hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating
    hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for OTX2 (see all 44):    
    About MalaCards
    otx2-related combined pituitary hormone deficiency    microphthalmia syndromic 5    retinal dystrophy, early-onset, and pituitary dysfunction    dysgnathia complex
    pituitary hormone deficiency, combined, 6    agnathia-otocephaly complex    microphthalmia, isolated 2    cataract-glaucoma
    alcohol-related neurodevelopmental disorder    anophthalmia/microphthalmia    partial fetal alcohol syndrome    alcohol-related birth defect
    fetal alcohol syndrome    branchiootorenal syndrome    combined pituitary hormone deficiency    microphthalmia
    pituitary hypoplasia    medulloblastoma    septo-optic dysplasia    isolated growth hormone deficiency

    4 diseases from the University of Copenhagen DISEASES database for OTX2:
    Microphthalmia     Medulloblastoma     Pituitary hypoplasia     Coloboma

    OTX2 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for OTX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anophthalmia 85.4 5 19397404 (2), 18039390 (1), 20396904 (1), 18385377 (1)
    microphthalmia 78 5 17406642 (2), 18039390 (1), 19397404 (1), 18385377 (1)
    medulloblastoma 63.2 25 16462208 (6), 20028867 (5), 15705891 (4), 17522332 (2) (see all 5)
    tumors 0 16 19686387 (3), 20028867 (3), 20233874 (1), 19893048 (1) (see all 5)

    GeneTests: OTX2
    GeneReviews: OTX2
    Genetic Association Database (GAD): OTX2
    Human Genome Epidemiology (HuGE) Navigator: OTX2 (9 documents)

    Export disorders for OTX2 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 OTX2 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with OTX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. (PubMed id 18728160)1, 2, 9 Diaczok D.... Radovick S. (J. Clin. Endocrinol. Metab. 2008)
    2. Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina. (PubMed id 19414065)1, 2, 9 Larsen K.B....ller M. (Int. J. Dev. Neurosci. 2009)
    3. A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. (PubMed id 20396904)1, 2, 9 Ashkenazi-Hoffnung L.... Gat-Yablonski G. (Hum. Genet. 2010)
    4. Polymorphisms in the homeobox gene OTX2 may be a risk factor for bipolar disorder. (PubMed id 17541950)1, 4, 9 Sabunciyan S....Weis S. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    5. Chromosome locations of human EMX and OTX genes. (PubMed id 7959790)1, 3, 9 Kastury K....Boncinelli E. (Genomics 1994)
    6. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1, 4, 9 Zhang X....Zhang Q. (Mol. Vis. 2009)
    7. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (PubMed id 20494911)1, 4 Gonzalez-Rodriguez J....Zenteno J.C. (Br J Ophthalmol 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. The transcription factor PITX3 is associated with sporadic Parkinson's disease. (PubMed id 17905480)1, 4 Fuchs J....Gasser T. (Neurobiol. Aging 2009)
    10. Heterozygous mutations of OTX2 cause severe ocular malformations. (PubMed id 15846561)1, 2 Ragge N.K.... Hanson I.M. (Am. J. Hum. Genet. 2005)

    (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: 5015 HGNC: 8522 AceView: OTX2 Ensembl:ENSG00000165588 euGenes: HUgn5015
    ECgene: OTX2 H-InvDB: OTX2

    (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 OTX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for OTX2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OTX2[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 OTX2 gene:
    Search GeneIP for patents involving OTX2

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



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