Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

OTX2 Gene

protein-coding   GIFtS: 62
GCID: GC14M057267

orthodenticle homeobox 2

(Previous name: orthodenticle homolog 2 (Drosophila) )
 Explore 39 diseases affiliated with
OTX2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for OTX2    

Aliases
for OTX2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Orthodenticle Homeobox 21 2
Orthodenticle Homolog 22 3
MCOPS52 5
Orthodenticle Homolog 2 (Drosophila)1
CPHD62
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


Summaries
for OTX2 gene

(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 OTX2:
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)

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)


Genomic Views
for OTX2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OTX2 gene promoter:
         AP-1   ATF-2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: OTX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for OTX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for OTX2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243 (See protein sequence)
Recommended Name: Homeobox protein OTX2  
Size: 289 amino acids; 31636 Da
Subcellular location: Nucleus (Probable)
Developmental stage: Embryo
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P32243

    • OTX2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000451357   ENSP00000450468  
     ENSP00000451272  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 3): OTX2
    OriGene Custom Protein Services for OTX2 
    GenScript Custom Purified and Recombinant Proteins Services for OTX2
    Novus Biologicals OTX2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for OTX2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



    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 (see all 2): OTX2
    OriGene Custom Antibody Services for OTX2 
    GenScript Custom Superior Antibodies Services for OTX2
    Novus Biologicals OTX2 Antibodies
    Abcam antibodies for OTX2 
    Uscn Antibodies for OTX2
    ThermoFisher Antibody for OTX2

    Assay Products for OTX2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    R&D Systems Multiplex/Array Assay Kits & Reagents for OTX2
    GenScript Custom Assay Services for OTX2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for OTX2

    Protein Domains /
    Families
    for OTX2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    OTX2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR003022 Otx2_TF
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like
     IPR003025 Otx_TF

    Graphical View of Domain Structure for InterPro Entry P32243

    ProtoNet protein and cluster: P32243

    2 Blocks protein families:
    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


    Function
    for OTX2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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'

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): OTX2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OTX2
    8/57 QIAGEN miScript miRNA 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 plasmid: OTX2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTX2 (see all 4)
    OriGene shRNA RFP: OTX2
    OriGene siRNA: OTX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTX2

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTX2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTX2 (see all 2)
    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
    Products:             		GenScript Custom overexpressing Cell Line Services for OTX2
    Search LifeMap BioReagents cell lines for OTX2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTX2

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (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 NAS--
    GO:0005515protein binding IPI--
    GO:0008190eukaryotic initiation factor 4E binding TAS15705863


    OTX2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for OTX2: Otx2tm10Asim Otx2tm4.2Sia Otx2tm1Sia Otx2tm8Asim Otx2tm6Sia Otx2tm1.2Tlam
                                                   Otx2tm6.1Asim Otx2tm5Sia Otx2tm1Sla Otx2tm7Sia Otx2tm2Sla
         15/20 MGI mutant phenotypes (inferred from 31 alleles) (MGI details for Otx2) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  normal  pigmentation 

    OTX2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for OTX2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Neuroscience
    		Neuroscience1.00
    2Transcription factors in neurogenesis
    		Transcription factors in neurogenesis1.00
    3Selected targets of Oct-3/4
    		Selected targets of Oct-3/41.00
    4TP53 network
    		TP53 network1.00
    5Wnt / Hedgehog / Notch
    		Wnt / Hedgehog / Notch1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for OTX2
        Selected targets of Oct-3/4
    Transcription factors in neurogenesis


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

    1 BioSystems Pathway for OTX2 
        TP53 network



    OTX2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for OTX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for OTX2 (P322432, 3 ENSP000003438194) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2861485 I2D: score=3 STRING: ENSP00000244769
    DMBX1Q8NFW53, ENSP000003531324I2D: score=2 STRING: ENSP00000353132
    FOXA2Q9Y2613, ENSP000003159554I2D: score=2 STRING: ENSP00000315955
    LHX1P487423, ENSP000002544574I2D: score=2 STRING: ENSP00000254457
    MITFO750303, ENSP000002956004I2D: score=1 STRING: ENSP00000295600
    About this table

    Gene Ontology (GO): 5/29 biological process terms (GO ID links to tree view) (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001708cell fate specification IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006461protein complex assembly IDA--
    GO:0007411axon guidance IDA16267555


    OTX2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for OTX2 gene

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

    OTX2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for OTX2
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about OTX2 

    Transcripts
    for OTX2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for OTX2 gene (5 alternative transcripts): 
    NM_001270523.1  NM_001270524.1  NM_001270525.1  NM_021728.3  NM_172337.2  

    Unigene Clusters for OTX2:

    Orthodenticle homeobox 2
    Hs.288655  [show with all ESTs], Hs.741558  [show with all ESTs]
    Unigene Representative Sequences: NM_001270524, NR_073036
    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:             		 OriGene 3'-UTR Clone (see all 2): OTX2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OTX2
    8/57 QIAGEN miScript miRNA 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 plasmid: OTX2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTX2 (see all 4)
    OriGene shRNA RFP: OTX2
    OriGene siRNA: OTX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTX2
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTX2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTX2 (see all 2)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for OTX2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OTX2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTX2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTX2

    Additional cDNA sequence: 

    AB593056.1 NR_073036.1 

    6 DOTS entries:

    DT.307876  DT.40263755  DT.100025424  DT.100755237  DT.100755238  DT.97842872 

    24/59 AceView cDNA sequences (see all 59):

    BM799551 BM904035 BM903863 BM676861 BQ639181 BE778281 CA397809 BQ424035 
    BE779765 BQ432088 BM564760 BU741661 BC032579 NM_021728 AA364594 BM698799 
    BE781530 BU176852 BM724395 BU154244 NM_172337 BU187294 BU162097 AA334301 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for OTX2 gene

    (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

    OTX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCAACTGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    OTX2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/36 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 36) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusChoroid Plexus Progenitor CellsChoroid Plexus
    EyeNeuroblastic LayerEarly Photoreceptor Precursor CellsPhotoreceptors, Retina
    EyeNeuroblastic LayerLate Photoreceptor Precursor CellsPhotoreceptors, Retina
    EyeOuter Nuclear LayerCone Precursor CellsPhotoreceptors, Retina
    EyeOuter Nuclear LayerRod Precursor CellsPhotoreceptors, Retina
    EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor CellsRetinal Pigmented Epithelium
    Neural EctodermNeural PlateIsthmus CellsNeural Ectoderm
    EyeNeuroblastic LayerEarly Retinal Progenitor CellsRetina
    BrainSubstantia Nigra pars CompactaAdult Dopaminergic NeuronsDopaminergic neurons
    BrainSubstantia Nigra pars CompactaDopaminergic Progenitor CellsDopaminergic neurons
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/26 LifeMap Cells (see all 26) 
    NameCategory
    Induced pluripotent stem cells (using UTF1) (Induced Pluripotent Stem Cell)Early Embryo, Fibroblast
    Line H1 (WA01) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    ES-J1 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Otx2-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Neuronal progenitor cells (Derivation of functi...)
    Otx2+Corin+ cells (Derivation of functi...)
    Midbrain neural progenitor-like cells (Differentiation of h...)
    N2/LSB induced-cells (Generation of midbra...)
    N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)

    See OTX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OTX2

    SOURCE GeneReport for Unigene clusters: Hs.288655 Hs.741558

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

        SABiosciences Expression via Pathway-Focused 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 genome-wide validated SYBR primer pairs in human, mouse, rat for OTX2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OTX2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTX2
    QIAGEN 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
    for OTX2 gene

    (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 OTX2 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves OTX21 orthodenticle homeobox 2 85.58(n)
    98.96(a)    		   395191  NM_204520.2  NP_989851.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ARGFX6
    CRX6
    		 --
    		 95(a)
    76(a)
    		 possible ortholog
    1 ↔ 1
    		 AAWZ02037392(13248-13877)
    LGf(4108301-4123983)
    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
    		 12(a)
    		 1 ↔ 1
    		 X(8524192-8544714)
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-376
    ceh-366
    (see all 3)    		 Homeobox protein ceh-36
    (see all 3)    		 17(a)
    16(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 X(14197293-14209084)
    X(14183380-14185528)


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

    Paralogs
    for OTX2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OTX2 gene
    GSC2  HESX12  PROP12  ARGFX2  DMBX12  GSC22  SEBOX2  MIXL12  
    OTX12  CRX2  
    15 SIMAP similar genes for OTX2 using alignment to 6 protein entries:     OTX2_HUMAN (see all proteins):
    PRRX1    SHOX2    PITX2    PITX1    CRX    NKX2-5
    OTX1    PHOX2B    PAX6    PRRX2    MNX1    DUX2
    MEOX1    POU6F1    RAX2

    OTX2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for OTX2
    PGOHUM00000240974 PGOHUM00000236214


    Genomic Variants
    for OTX2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/180 NCBI SNPs in OTX2 are shown (see all 180)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048944651,2
    		Cpathogenic37433300(-) ACCTAA/TACTCA 12 * Y stg10--------
    rs128884661,2
    		H--37431569(+) TCTTGT/GCATTC 7 -- int14Minor allele frequency- G:0.00NS EA 416
    rs128873411,2
    		H--37431612(+) TCCCTC/TTTAAA 7 -- int14Minor allele frequency- T:0.00NS EA 420
    rs128873651,2
    		H--37431699(+) GGAAAA/CCAAGA 7 -- int14Minor allele frequency- C:0.00NS EA 418
    rs100478461,2
    		C,F,H,--37431849(+) CTCTCT/CGTCCT 7 -- int110Minor allele frequency- C:0.07NS EA NA CSA WA 1210
    rs749934361,2
    		C,--37432626(+) GGCTA-/GGACCT 14 -- ut31 nc-transcript-variant0--------
    rs759475881,2
    		C,F,--37432807(+) GGCCCC/TTCTAA 7 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.02WA 118
    rs37425761,2
    		H--37432926(+) CCCAGT/CATATT 7 -- ut31 nc-transcript-variantese35Minor allele frequency- C:0.01EA NS 1910
    rs746588061,2
    		C,--37433449(+) GAATTA/GGCCAC 12 Q * stg10--------
    rs789537171,2
    		C,--37433554(+) TTGTTG/TGCGGC 12 K Q mis10--------

    HapMap Linkage Disequilibrium report for OTX2 (57267425 - 57277197 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for OTX2: --
    Human Gene Mutation Database (HGMD): OTX2

    Locus Specific Mutation Databases (LSDB): OTX2

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OTX2
    DNA2.0 Custom Variant and Variant Library Synthesis for OTX2

    Disorders / Diseases
    for OTX2 gene

    (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.)
    About This Section
    OTX2 for disorders           About GeneDecksing

    OMIM gene information: 600037   
    OMIM disorders: 610125  
    UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243
  • Defects in OTX2 are the cause of microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]. Microphthalmia is a
    • clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral
    absence of ocular tissues. Up to 80% of cases of microphthalia occur in association with syndromes that include
    non-ocular abnormalities. MCOPS5 patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and
    variable additional features including coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of
    the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures
  • Defects in OTX2 are the cause of pituitary hormone deficiency combined type 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

    20/39 diseases for OTX2 (see all 39):    About MalaCards
    combined pituitary hormone deficiency    pituitary hormone deficiency    microphthalmia    anophthalmia/microphthalmia
    medulloblastoma    alcohol-related birth defect    alcohol-related neurodevelopmental disorder    isolated growth hormone deficiency
    growth hormone deficiency    microphthalmia syndromic 5    partial fetal alcohol syndrome    anophthalmia
    cataract-glaucoma    non-hodgkin lymphoma    birth defects    corpus callosum
    fetal alcohol syndrome    branchiootorenal syndrome    pituitary hypoplasia    hodgkin's lymphoma

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

    4 Novoseek 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
    Anophthalmia/Microphthalmia

    Human Genome Epidemiology (HuGE) Navigator: OTX2 (9 documents)

    Export disorders for OTX2 gene to outside databases

    Publications
    for OTX2 gene

    (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 OTX2 gene, integrated from 9 sources (see all 93):
    (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. (2008)
    2. A novel loss-of-function mutation in OTX2 in a patien t with anophthalmia and isolated growth hormone deficiency. (PubMed id 20396904)1, 2, 9 Ashkenazi-Hoffnung L....Gat-Yablonski G. (2010)
    3. Chromosome locations of human EMX and OTX genes. (PubMed id 7959790)1, 3, 9 Kastury K....Boncinelli E. (1994)
    4. Heterozygous mutations of OTX2 cause severe ocular malformations. (PubMed id 15846561)1, 2 Ragge N.K.... Hanson I.M. (2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Elements regulating the transcription of human interstitial retinoid- binding protein (IRBP) gene in cultured retinoblastoma cells. (PubMed id 10372988)1, 2 Fong S.L. and Fong W.B. (1999)
    7. A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo. (PubMed id 8101484)1, 2 Simeone A.... Boncinelli E. (1993)
    8. OTX2 is critical for the maintenance and progression of Shh-independent medulloblastomas. (PubMed id 20028867)1, 9 Adamson D.C....Yan H. (2010)
    9. Differential CRX and OTX2 expression in human retina and retinoblastoma. (PubMed id 19686387)1, 9 Glubrecht D.D....Godbout R. (2009)
    10. OTX2 regulates expression of DOPAchrome tautomerase in human retinal pigment epithelium. (PubMed id 12559959)1, 9 Takeda K....Shibahara S. (2003)

    External Searches for OTX2 gene

    (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)

    Genome Databases showing OTX2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5015 HGNC: 8522 AceView: OTX2 Ensembl:ENSG00000165588 euGenes: HUgn5015
    ECgene: OTX2 H-InvDB: OTX2

    Other Databases showing OTX2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing OTX2 gene

    (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 OTX2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OTX2

    Intellectual Property
    for OTX2 gene

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



    Products
    for OTX2 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of OTX2
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for OTX2 (Otx2)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Primer Pairs for OTX2 (Otx2)   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Multiplex/Array Assay Kits/Reagents for OTX2 (Otx2)  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for OTX2   OriGene shRNA RFP for OTX2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTX2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OTX2  
     OriGene Protein Over-expression Lysate for OTX2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for OTX2   OriGene 3'-UTR Clone for OTX2  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTX2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTX2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for OTX2   OriGene Custom Protein Services for OTX2  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OTX2
     Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OTX2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTX2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTX2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTX2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTX2
     GenScript Custom Purified and Recombinant Proteins Services for OTX2 GenScript cDNA clones with any tag delivered in your preferred vector for OTX2
     GenScript Custom Assay Services for OTX2 GenScript Custom Superior Antibodies Services for OTX2
     GenScript Custom overexpressing Cell Line Services for OTX2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for OTX2 

     Regulatory tfbs in OTX2 promoter
     Search Chromatin IP Primers for OTX2
     RT2 qPCR Primer Assay in human, mouse, rat OTX2
     GNC Network for OTX2
     SABiosciences PCR Arrays including human, mouse, rat OTX2
     Search Tocris compounds for OTX2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     OTX2 antibodies
     OTX2 lysates
     Antibodies for OTX2
     See all of Abcam's Antibodies, Kits and Proteins for OTX2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     OTX2 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for OTX2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTX2
     SwitchGear 3'UTR luciferase reporter plasmids for OTX2
     SwitchGear Promoter luciferase reporter plasmids for OTX2
     ThermoFisher Antibody for OTX2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTX2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      OTX2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4