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

OTX1 Gene

protein-coding   GIFtS: 56
GCID: GC02P063277

Orthodenticle Homeobox 1

(Previous names: orthodenticle (Drosophila) homolog 1, orthodenticle homolog...)
  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)
About This Section

Aliases
Orthodenticle Homeobox 11 2
Orthodenticle Homolog 12 3
Orthodenticle (Drosophila) Homolog 11
Orthodenticle Homolog 1 (Drosophila)1
Homeobox Protein OTX12

External Ids:    HGNC: 85211   Entrez Gene: 50132   Ensembl: ENSG000001155077   OMIM: 6000365   UniProtKB: P322423   

Export aliases for OTX1 gene to outside databases

Previous GC identifers: GC02P063406 GC02P063234 GC02P063252 GC02P063189 GC02P063131 GC02P063016


(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 OTX1 Gene:
This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded
protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar
protein in mouse is required for proper brain and sensory organ development and can cause epilepsy. Alternate
splicing results in two transcript variants that encoded the same protein.(provided by RefSeq, Dec 2010)

GeneCards Summary for OTX1 Gene: 
OTX1 (orthodenticle homeobox 1) is a protein-coding gene. Diseases associated with OTX1 include dyslexia, and non-hodgkin lymphoma, and among its related super-pathways are PKA activation in glucagon signalling. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSC.

UniProtKB/Swiss-Prot: OTX1_HUMAN, P32242
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 OTX1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OTX1 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   AREB6   SRY   POU2F1   E2F   E2F-1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOTX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for OTX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTX1


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

Entrez Gene cytogenetic band: 2p13   Ensembl cytogenetic band:  2p15   HGNC cytogenetic band: 2p15

OTX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OTX1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P063277:  view genomic region     (about GC identifiers)

Start:
63,277,192 bp from pter      End:
63,284,971 bp from pter
Size:
7,780 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OTX1_HUMAN, P32242 (See protein sequence)
Recommended Name: Homeobox protein OTX1  
Size: 354 amino acids; 37327 Da
Subcellular location: Nucleus (Probable)
Developmental stage: Embryo
Secondary accessions: A6NHA2 B3KTJ4 Q53TG6

Explore the universe of human proteins at neXtProt for OTX1: NX_P32242

Explore proteomics data for OTX1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P32242

  • OTX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OTX1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001186699.1  NP_055377.1  

    ENSEMBL proteins: 
     ENSP00000355631   ENSP00000282549   ENSP00000385782  

    Human Recombinant Protein Products for OTX1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
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    OriGene Protein Over-expression Lysate for OTX1
    OriGene Custom MassSpec 
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    Novus Biologicals OTX1 Proteins
    Novus Biologicals OTX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OTX1 

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

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

    OTX1 for ontologies           About GeneDecksing



    OTX1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for OTX1 

    Assay Products for OTX1: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for OTX1 
    Cloud-Clone Corp. CLIAs for OTX1


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

    5/6 InterPro protein domains (see all 6):
     IPR003026 Otx1_TF
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like
     IPR003025 Otx_TF

    Graphical View of Domain Structure for InterPro Entry P32242

    ProtoNet protein and cluster: P32242

    2 Blocks protein domains:
    IPB003025 Otx transcription factor signature
    IPB003026 Otx1 transcription factor signature


    UniProtKB/Swiss-Prot: OTX1_HUMAN, P32242
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    OTX1 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OTX1_HUMAN, P32242
    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 OTX1:
    Drosophila orthodenticle (otd) homolog,paired-like homeo domain encoding gene 1,expressed in the developing brain
    of mouse embryo,required for corticogenesis and sense organ development

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity NAS--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
         
    OTX1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for OTX1:
     Synthetic lethal with c-Myc af 

         13 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Otx1):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  homeostasis/metabolism  mortality/aging  nervous system 
     reproductive system  skeleton  vision/eye 

    OTX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Otx1tm1Sia for OTX1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for OTX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OTX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OTX1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OTX1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OTX1
    8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate OTX1 (see all 51):
    hsa-miR-1224-3p hsa-miR-15a hsa-miR-1260b hsa-miR-4305 hsa-let-7a-2* hsa-miR-424 hsa-miR-518c hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidOTX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OTX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTX1

    Gene Editing
    Products:
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): OTX1 (NM_014562)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTX1
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                         Customized lentivirus expression plasmids for stable overexpression of OTX1 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTX1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for OTX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1PKA activation in glucagon signalling
    Development Role of Activin A in cell differentiation and proliferation0.33
    2Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for OTX1
        Development Role of Activin A in cell differentiation and proliferation

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for OTX1
        Transcriptional Regulatory Network in Embryonic Stem Cell

    1 GeneGo (Thomson Reuters) Pathway for OTX1
        Development Role of Activin A in cell differentiation and proliferation



    OTX1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OTX1

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

    5/11 Interacting proteins for OTX1 (P322422, 3 ENSP000002825494) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBPMSQ930622, 3, ENSP000003401764MINT-68227 I2D: score=5 STRING: ENSP00000340176
    CHIC2Q9UKJ52, 3, ENSP000002639214MINT-68185 I2D: score=5 STRING: ENSP00000263921
    MDFIQ997502, 3, ENSP000002303214MINT-67015 I2D: score=5 STRING: ENSP00000230321
    KRTAP4-12Q9BQ662, 3, ENSP000003775824MINT-66082 I2D: score=5 STRING: ENSP00000377582
    TLE4Q047273, ENSP000003657354I2D: score=1 STRING: ENSP00000365735
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent NAS--
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0007275multicellular organismal development NAS--
    GO:0009952anterior/posterior pattern specification IEA--
    GO:0022037metencephalon development IEA--

    OTX1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for OTX1

    Search CenterWatch for drugs/clinical trials and news about OTX1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OTX1 gene (2 alternative transcripts): 
    NM_001199770.1  NM_014562.3  

    Unigene Cluster for OTX1:

    Orthodenticle homeobox 1
    Hs.734360  [show with all ESTs]
    Unigene Representative Sequence: NM_014562
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366671(uc021vim.1) ENST00000484066 ENST00000282549(uc002scd.3 uc010ypt.2)
    ENST00000477348 ENST00000405984 ENST00000476383
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OTX1
    8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate OTX1 (see all 51):
    hsa-miR-1224-3p hsa-miR-15a hsa-miR-1260b hsa-miR-4305 hsa-let-7a-2* hsa-miR-424 hsa-miR-518c hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidOTX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OTX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTX1
    Clone
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    OriGene clones in human, mouse for OTX1 (see all 8)
    OriGene ORF clones in mouse, rat for OTX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): OTX1 (NM_014562)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTX1
    Sirion Biotech Customized lentivirus for stable overexpression of OTX1 
                         Customized lentivirus expression plasmids for stable overexpression of OTX1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for OTX1
    OriGene qSTAR qPCR primer pairs in human, mouse for OTX1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTX1

    Additional mRNA sequence: 

    AK095680.1 AK297308.1 BC007621.1 

    3 DOTS entries:

    DT.70105217  DT.40247048  DT.102820654 

    24/28 AceView cDNA sequences (see all 28):

    C00754 BM679406 CD723882 BQ082107 BU689444 NM_014562 BU632082 AK095680 
    BC007621 BX115302 BE502322 BE258323 BP357029 BF063678 AI971638 AW136237 
    BE315325 BE621300 AI813505 BM713976 BU733446 BM720707 CB243593 AI632122 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OTX1 expression in normal human tissues (normalized intensities)      OTX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGGTTCCAG
    OTX1 Expression
    About this image


    OTX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Brain (Nervous System)    fully expand to see all 23 entries
             Thalamus
             Olfactory Bulb   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Telencephalon
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Retinal Pigmented Epithelium Progenitor Cells Retinal Pigmented Epithelium
             Human Non-Pigment Ciliary Epithelial Cells (HNPCEpiC)   
             lens   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   

    See OTX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OTX1

    SOURCE GeneReport for Unigene cluster: Hs.734360

    UniProtKB/Swiss-Prot: OTX1_HUMAN, P32242
    Tissue specificity: Expressed in brain

        SABiosciences Expression via Pathway-Focused PCR Array including OTX1: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for OTX1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTX1

    (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 OTX1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Otx11 , 5 orthodenticle homolog 1 (Drosophila)1, 5 88.79(n)1
    97.46(a)1
      11 (14.10 cM)5
    184231  NM_011023.31  NP_035153.11 
     219947645 
    chicken
    (Gallus gallus)
    Aves LOC1008585851 homeobox protein OTX1-like 68.97(n)
    70.73(a)
      100858585  XM_003640907.1  XP_003640955.1 
    lizard
    (Anolis carolinensis)
    Reptilia OTX16
    Uncharacterized protein
    68(a)
    1 ↔ 1
    1(120890310-120905192)
    African clawed frog
    (Xenopus laevis)
    Amphibia otx1-A2 transcription factor Otx1, orthodenticle homolog 1 79.12(n)    AY029294.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045290.12   -- 79.58(n)   30500  BC045290.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta oc6
    ocelliless
    23(a)
    1 → many
    X(8524192-8544714)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-366
    ceh-376
    (see all 3)
    Homeobox protein ceh-37
    (see all 3)
    17(a)
    16(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    X(14183449-14185597)
    X(14197362-14209153)


    ENSEMBL Gene Tree for OTX1 (if available)
    TreeFam Gene Tree for OTX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OTX1 gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  HESX12  RHOXF22  PITX22  
    VSX22  RHOXF12  PITX32  DMBX12  ESX12  GSC22  CRX2  RHOXF2B2  
    9 SIMAP similar genes for OTX1 using alignment to 4 protein entries:     OTX1_HUMAN (see all proteins):
    CRX    NKX2-5    OTX2    RAX2    PRRX1    DUX2
    POU6F1    SHOX2    HOXB1

    OTX1 for paralogs           About GeneDecksing



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

    10/108 SNPs in OTX1 are shown (see all 108)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs582352671,2
    C--63277843(+) ACCCCC/GGGCTC 2 -- int1 us2k13Minor allele frequency- G:0.48NA WA 240
    rs1807282031,2
    --63277865(+) GCCCGA/GCTCCC 2 -- int1 us2k10--------
    rs1872091011,2
    --63278128(+) AACGCA/CGAGCC 2 -- int10--------
    rs1920962941,2
    --63278169(+) CCTTGC/TGGCCC 2 -- int10--------
    rs1820867451,2
    --63278180(+) CTCGGC/GGCGAT 2 -- int10--------
    rs778206501,2
    C--63278303(+) TGGGAA/GGAAGG 2 -- int11Minor allele frequency- G:0.01WA 118
    rs558553711,2
    C--63278534(+) TCCCGA/GCTTCC 2 -- int10--------
    rs116920161,2
    C,F,A,H--63278594(+) TTGGTG/AAGCCG 2 -- int11Minor allele frequency- A:0.03NA 92
    rs116919381,2
    C,H--63278649(+) TCCTCC/AGAAGT 2 -- int15Minor allele frequency- A:0.00NS EA NA 418
    rs102032361,2
    C,H--63278687(+) AAAGTC/ATTTGA 2 -- int14Minor allele frequency- A:0.00NS EA 418

    HapMap Linkage Disequilibrium report for OTX1 (63277192 - 63284971 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for OTX1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv874233CNV Loss21882294
    nsv7313OTHER Inversion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600036    OMIM disorders: --

    9 diseases for OTX1:    About MalaCards
    dyslexia    non-hodgkin lymphoma    hodgkin's lymphoma    autism spectrum disorder
    retinitis    prostate cancer    prostatitis    breast cancer
    neuronitis


    OTX1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OTX1
    Human Genome Epidemiology (HuGE) Navigator: OTX1 (1 document)

    Export disorders for OTX1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for OTX1 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with OTX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of seven new prostate cancer susceptib ility loci through a genome-wide association study. (PubMed id 19767753)1, 4 Eeles R.A....Cao G. (2009)
    2. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PubMed id 19018235)1, 4 Laroche F....Robel L. (2008)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Chromosome locations of human EMX and OTX genes. (PubMed id 7959790)1, 3 Kastury K....Boncinelli E. (1994)
    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. Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1. (PubMed id 11901358)1, 9 Francks C....Monaco A.P. (2002)
    9. Epilepsy and brain abnormalities in mice lacking the Otx1 gene. (PubMed id 8841200)1, 9 Acampora D....Simeone A. (1996)
    10. 2p15-p16.1 microdeletion syndrome: molecular character ization and association of the OTX1 and XPO1 genes with autism spectrum disorder s. (PubMed id 21750575)1 Liu X....Holden J.J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5013 HGNC: 8521 AceView: OTX1 Ensembl:ENSG00000115507 euGenes: HUgn5013
    ECgene: OTX1 H-InvDB: OTX1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OTX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OTX1 gene:
    Search GeneIP for patents involving OTX1

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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