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

OTX1 Gene

protein-coding   GIFtS: 54
GCID: GC02P063277

orthodenticle homeobox 1

(Previous names: orthodenticle (Drosophila) homolog 1, orthodenticle homolog...)
 Explore 9 diseases affiliated with
OTX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for OTX1    

Aliases
for OTX1 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 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


Summaries
for OTX1 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 OTX1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 plasmid: OTX1 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

Proteins
for OTX1 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P32242

    • OTX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000355631   ENSP00000282549   ENSP00000385782  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: OTX1
    OriGene Custom Protein Services for OTX1 
    GenScript Custom Purified and Recombinant Proteins Services for OTX1
    Novus Biologicals OTX1 Proteins
    Novus Biologicals OTX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of OTX1
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    Uscn Antibodies for OTX1
    Search ThermoFisher Antibodies for OTX1

    Assay Products for OTX1: 
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    Uscn ELISAs and CLIAs for OTX1

    Protein Domains /
    Families
    for OTX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    OTX1 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 families:
    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


    Function
    for OTX1 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: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: OTX1
    Browse MicroRNA Expression Plasmids
    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 plasmid: OTX1 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 OTX1 (see all 7)
    OriGene shRNA RFP: OTX1
    OriGene siRNA: OTX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTX1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for OTX1

    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 OTX1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTX1 (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): OTX1 (NM_014562)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTX1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for OTX1
    Search LifeMap BioReagents cell lines for OTX1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTX1

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity NAS--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--


    OTX1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Otx1tm1Sia for OTX1
         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


    Pathways & Interactions
    for OTX1 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
    1PKA activation in glucagon signalling
    		Development Role of Activin A in cell differentiation and proliferation0.33
    		Development_Role of Activin A in cell differentiation and proliferation0.33
    2Transcriptional Regulatory Network in Embryonic Stem Cell
    		Transcriptional Regulatory Network in Embryonic Stem Cell1.00

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for OTX1 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
    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 

    Transcripts
    for OTX1 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 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:             		 OriGene 3'-UTR Clone: OTX1
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: OTX1 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 OTX1 (see all 7)
    OriGene shRNA RFP: OTX1
    OriGene siRNA: OTX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTX1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTX1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTX1 (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): 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 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OTX1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OTX1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTX1

    Additional cDNA sequence: 

    AK095680.1 AK297308.1 BC007621.1 

    2 DOTS entries:

    DT.70105217  DT.40247048 

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

    BU689444 C00754 NM_014562 BU632082 BC007621 AK095680 BM679406 BQ082107 
    CD723882 BU733446 BX115302 BM720707 BI861916 AI971638 BE502322 BE621300 
    BP357029 AI813505 BE258323 BE315325 AW136237 CB243593 BM713976 AI632122 

    GeneLoc Exon Structure


    Expression
    for OTX1 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

    OTX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGGTTCCAG

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

    OTX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor CellsRetinal Pigmented Epithelium
    Gut TubeForegutForegut Endoderm CellsEndoderm
    BoneMaxillary ProcessBone
    Head MesenchymeFrontonasal ProcessHead Mesenchyme
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)
    Primitive gut tube-like cells (A scalable, suspensi...)

    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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    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
    for OTX1 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 OTX1 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    ARGFX6
    		 --
    		 68(a)
    61(a)
    		 1 ↔ 1
    possible ortholog
    		 1(120890310-120901186)
    AAWZ02037392(13248-13877)
    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 
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-376
    ceh-366
    (see all 3)    		 Homeobox protein ceh-36
    (see all 3)    		 20(a)
    18(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 X(14197293-14209084)
    X(14183380-14185528)


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

    Paralogs
    for OTX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OTX1 gene
    GSC2  OTX22  HESX12  PROP12  ARGFX2  DMBX12  GSC22  SEBOX2  
    MIXL12  CRX2  
    10 SIMAP similar genes for OTX1 using alignment to 4 protein entries:     OTX1_HUMAN (see all proteins):
    CRX    NKX2-5    OTX2    RAX2    PRRX1    DUX2
    POU6F1    MEOX1    SHOX2    HOXB1

    OTX1 for paralogs           About GeneDecksing



    Genomic Variants
    for OTX1 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

    10/88 NCBI SNPs in OTX1 are shown (see all 88)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs14654901,2
    		C--63275276(-) CCATGA/GCCGTT 3 -- us2k1 int12Minor allele frequency- G:0.03MN NA 186
    rs728905351,2
    		C,--63275638(+) CACCTC/TGCTGC 3 -- us2k1 nc-transcript-variant1Minor allele frequency- T:0.50WA 2
    rs761192201,2
    		--63275830(+) CGCACC/TCCGGG 3 -- us2k12Minor allele frequency- T:0.03NA EA 122
    rs1458882551,2
    		--63276152(+) GCTTTA/CTCTCT 4 -- us2k10--------
    rs1489745911,2
    		--63276217(+) GTGTCG/TCTGAC 4 -- us2k10--------
    rs44354341,2
    		C,H--63276580(+) AGGGGG/TAAGCA 4 -- us2k1 trp32Minor allele frequency- T:0.00NS NA 228
    rs1437744831,2
    		--63276873(+) GTGCCA/GTTTAA 3 -- us2k10--------
    rs1382810181,2
    		--63276960(+) GGAAGG/TTTTTT 3 -- us2k10--------
    rs1882344331,2
    		--63277471(+) GCGGCG/TCCGGG 3 -- int1 us2k10--------
    rs130113721,2
    		C,H,--63277480(+) GGAGAG/AGGGCC 3 -- us2k1 int1 trp31Minor allele frequency- A:0.01NS 222

    HapMap Linkage Disequilibrium report for OTX1 (63277192 - 63284971 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for OTX1: --

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    Disorders / Diseases
    for OTX1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OTX1 for disorders           About GeneDecksing

    OMIM gene information: 600036    OMIM disorders: --

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

    Human Genome Epidemiology (HuGE) Navigator: OTX1 (1 document)

    Export disorders for OTX1 gene to outside databases

    Publications
    for OTX1 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 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. 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)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Chromosome locations of human EMX and OTX genes. (PubMed id 7959790)1, 3 Kastury K....Boncinelli E. (1994)
    5. 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)
    6. 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)
    7. Epilepsy and brain abnormalities in mice lacking the Otx1 gene. (PubMed id 8841200)1, 9 Acampora D....Simeone A. (1996)
    8. 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)
    9. OTX1 expression in breast cancer is regulated by p53. (PubMed id 21478910)1 Terrinoni A....Porta G. (2011)
    10. Expression of the homeobox genes OTX2 and OTX1 in the early developing human brain. (PubMed id 20354145)1 Larsen K.B....ller M. (2010)

    External Searches for OTX1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing OTX1 gene

    (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

    Other Databases showing OTX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing OTX1 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 OTX1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for OTX1 gene

    (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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