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VSX2 Gene

protein-coding   GIFtS: 52
GCID: GC14P074706

Visual System Homeobox 2

(Previous names: C elegans ceh-10 homeo domain-containing homolog, ceh-1...)
(Previous symbols: HOX10, CHX10)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Visual System Homeobox 21 2     MCOPCB32 5
CHX101 2 3 5     C Elegans Ceh-10 Homeo Domain-Containing Homolog1
HOX101 2 3 5     Ceh-10 Homeo Domain Containing Homolog (C. Elegans)1
Ceh-10 Homeodomain-Containing Homolog2 3     Ceh-10 Homeodomain Containing Homolog (C. Elegans)1
Homeobox Protein CHX102 3     RET12
MCOP22 5     Ceh-10 Homeo Domain Containing Homolog2

External Ids:    HGNC: 19751   Entrez Gene: 3389172   Ensembl: ENSG000001196147   OMIM: 1429935   UniProtKB: P583043   

Export aliases for VSX2 gene to outside databases

Previous GC identifers: GC14P073776 GC14P054873


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VSX2 Gene:
This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in
this gene are associated with microphthalmia, cataracts and iris abnormalities. (provided by RefSeq, Oct 2009)

GeneCards Summary for VSX2 Gene:
VSX2 (visual system homeobox 2) is a protein-coding gene. Diseases associated with VSX2 include microphthalmia, isolated 2, and vsx2-related isolated microphthalmia. 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: VSX2_HUMAN, P58304
Function: Plays a significant role in the specification and morphogenesis of the sensory retina. May also
participate in the development of the cells of the inner nuclear layer, particularly bipolar cells (By
similarity)

Gene Wiki entry for VSX2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the VSX2 gene promoter:
         AP-1   ATF-2   Nkx2-5   AP-2gamma   AP-2beta   c-Jun   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVSX2 promoter sequence
   Search Chromatin IP Primers for VSX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VSX2


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

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

VSX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VSX2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P074706:  view genomic region     (about GC identifiers)

Start:
74,706,175 bp from pter      End:
74,729,441 bp from pter
Size:
23,267 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VSX2_HUMAN, P58304 (See protein sequence)
Recommended Name: Visual system homeobox 2  
Size: 361 amino acids; 39411 Da
Secondary accessions: A1A4X6

Explore the universe of human proteins at neXtProt for VSX2: NX_P58304

Explore proteomics data for VSX2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See VSX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_878314.1  
    ENSEMBL proteins: 
     ENSP00000261980  

    VSX2 Human Recombinant Protein Products:

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    VSX2 Assay Products:

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    Cloud-Clone Corp. ELISAs for VSX2
    Cloud-Clone Corp. CLIAs for VSX2


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

    5 InterPro protein domains:
     IPR003654 OAR_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like
     IPR023339 CVC

    Graphical View of Domain Structure for InterPro Entry P58304

    ProtoNet protein and cluster: P58304

    1 Blocks protein domain: IPB003654 Paired-like homeodomain protein

    UniProtKB/Swiss-Prot: VSX2_HUMAN, P58304
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 CVC domain
    Similarity: Contains 1 homeobox DNA-binding domain


    VSX2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VSX2_HUMAN, P58304
    Function: Plays a significant role in the specification and morphogenesis of the sensory retina. May also
    participate in the development of the cells of the inner nuclear layer, particularly bipolar cells (By
    similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
         
    VSX2 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Vsx2):
     endocrine/exocrine gland  mortality/aging  nervous system  no phenotypic analysis  pigmentation 
     reproductive system  vision/eye 

    VSX2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VSX2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VSX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VSX2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VSX2

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for VSX2 (see all 363):
    ABCD2,  ABHD4,  ACTL8,  ADCY1,  AEN,  AGA,  AGBL1,  AMBN,  AMIGO1,  AMN

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat VSX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VSX2 (see all 22):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-362-3p hsa-miR-3938 hsa-miR-513a-5p hsa-miR-661 hsa-miR-556-3p hsa-miR-1293
    SwitchGear 3'UTR luciferase reporter plasmidVSX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for VSX2
    Predesigned siRNA for gene silencing in human, mouse, rat VSX2

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for VSX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: VSX2 (NM_182894)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VSX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VSX2

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    Browse ESI BIO Cell Lines and PureStem Progenitors for VSX2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VSX2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VSX2_HUMAN, P58304: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005730nucleolus ----
    GO:0005737cytoplasm IEA--

    VSX2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VSX2
    Interactions:

        GeneGlobe Interaction Network for VSX2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for VSX2 (P583043 ENSP000002619804) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAX6P263673, ENSP000003684014I2D: score=4 STRING: ENSP00000368401
    RB1P064003, ENSP000002671634I2D: score=1 STRING: ENSP00000267163
    NKX2-1ENSP000003468794STRING: ENSP00000346879
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007601visual perception IEA--
    GO:0008284positive regulation of cell proliferation IEA--
    GO:0008285negative regulation of cell proliferation IEA--

    VSX2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VSX2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for VSX2 gene: 
    NM_182894.2  

    Unigene Cluster for VSX2:

    Visual system homeobox 2
    Hs.449771  [show with all ESTs]
    Unigene Representative Sequence: AY336059
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000261980(uc001xpq.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat VSX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VSX2 (see all 22):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-362-3p hsa-miR-3938 hsa-miR-513a-5p hsa-miR-661 hsa-miR-556-3p hsa-miR-1293
    SwitchGear 3'UTR luciferase reporter plasmidVSX2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for VSX2
    Predesigned siRNA for gene silencing in human, mouse, rat VSX2
    Clone
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    OriGene clones in human, mouse for VSX2 (see all 5)
    OriGene ORF clones in mouse, rat for VSX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: VSX2 (NM_182894)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VSX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VSX2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for VSX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VSX2
      QuantiTect SYBR Green Assays in human, mouse, rat VSX2
      QuantiFast Probe-based Assays in human, mouse, rat VSX2

    Additional mRNA sequence: 

    AY336059.1 BC128153.1 

    1 DOTS entry:

    DT.101978503 

    17 AceView cDNA sequences:

    NM_182894 BQ639470 BU734140 BM672563 BM709651 AY336059 BU726660 BM695822 
    BM704051 BM687954 CA395285 BQ636604 BM690185 BF516368 BU736665 BX490641 
    BM687178 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    VSX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACAATGGGA
    VSX2 Expression
    About this image


    VSX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 33 entries
             Bipolar Precursor Cells Inner Nuclear Layer
             Retina
             Optic cup structures
     
     Neurons
             Bipolar Precursor Cells Inner Nuclear Layer
             Motor neuron-like cells
     
     NULL (Sensory Organs)    fully expand to see all 7 entries
             Pigmented epithelium cell clusters
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Lateral Ventricle
     
     Bone (Muscoskeletal System)
             Bone Marrow
    VSX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VSX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.449771

    UniProtKB/Swiss-Prot: VSX2_HUMAN, P58304
    Tissue specificity: Abundantly expressed in retinal neuroblasts during eye development and in the inner nuclear
    layer of the adult retina. Within this layer, expression is stronger in the outer margin where bipolar cells
    predominate

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VSX2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for VSX2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vsx21 , 5 visual system homeobox 21, 5 91.41(n)1
    96.68(a)1
      12 (39.28 cM)5
    126771  NM_007701.21  NP_031727.11 
     845697625 
    chicken
    (Gallus gallus)
    Aves VSX21 visual system homeobox 2 81.78(n)
    83.29(a)
      395536  NM_204768.1  NP_990099.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    71(a)
    many ↔ many
    1(23566104-23601930)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia vsx21 visual system homeobox 2 67.2(n)
    71.88(a)
      100493176  XM_004917044.1  XP_004917101.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vsx22 visual system homeobox 2 protein 77.7(n)   64606  BC055588.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vsx26
    Vsx16
    Visual system homeobox 1 ortholog
    21(a)
    15(a)
    many ↔ many
    many ↔ many
    X(5422960-5454216)
    X(5488306-5506266)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-106
    Protein CEH-10 (ceh-10) mRNA, complete cds
    38(a)
    1 → many
    III(5799073-5801109) WBGene00000435


    ENSEMBL Gene Tree for VSX2 (if available)
    TreeFam Gene Tree for VSX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VSX2 gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  HESX12  PITX22  PROP12  
    PITX32  DMBX12  GSC22  CRX2  OTX12  MIXL12  
    1 SIMAP similar gene for VSX2 using alignment to 1 protein entry:     VSX2_HUMAN:
    VSX1

    VSX2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for VSX2 (see all 694)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0116194
    Microphthalmia with cataracts and iris abnormalities (MCOPCTI)4--see VAR_0116192 R Q mis40--------
    VAR_0293574
    Microphthalmia, isolated, 2 (MCOP2)4--see VAR_0293572 R W mis40--------
    VAR_0672694
    Microphthalmia, isolated, 2 (MCOP2)4--see VAR_0672692 G A mis40--------
    VAR_0116184
    Microphthalmia with cataracts and iris abnormalities (MCOPCTI)4--see VAR_0116182 R P mis40--------
    rs1219125431,2
    Cpathogenic155718081(+) CCGTCA/C/GAGCCA 3 Q P R mis10--------
    rs1474724791,2
    --55695994(+) ATCCTC/TATCTG 1 -- us2k10--------
    rs1383963611,2
    C--55696044(+) CACTCA/GCGTTT 1 -- us2k10--------
    rs1161914121,2
    C,F--55696071(+) CTGGCT/CCATCG 1 -- us2k11Minor allele frequency- C:0.10WA 118
    rs128780611,2
    C,F--55696129(+) ACATCC/TTCATC 1 -- us2k14Minor allele frequency- T:0.09NA 126
    rs1438301921,2
    --55696151(+) GGTGGA/GCTGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for VSX2 (74706175 - 74729441 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for VSX2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv269970CNV Insertion20981092
    nsv902096CNV Gain21882294
    nsv902097CNV Gain21882294

    Human Gene Mutation Database (HGMD): VSX2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VSX2
    DNA2.0 Custom Variant and Variant Library Synthesis for VSX2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 142993   
    OMIM disorders: 610092  610093  
    UniProtKB/Swiss-Prot: VSX2_HUMAN, P58304
  • Microphthalmia, isolated, 2 (MCOP2) [MIM:610093]: A disorder of eye formation, ranging from small size of
    a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea
    and lens, scaring of the retina and choroid, and other abnormalities may also be present. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]: A disorder of eye formation,
    ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities
    like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like
    cataract may also be present. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Microphthalmia, isolated, with coloboma, 3 (MCOPCB3) [MIM:610092]: A disorder of eye formation, ranging
    from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like
    opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
    Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and
    the fusion of the fetal fissure (optic fissure). Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for VSX2 (see all 24):    
    About MalaCards
    microphthalmia, isolated 2    vsx2-related isolated microphthalmia    anophthalmia/microphthalmia    microphthalmia with coloboma 3
    microphthalmia cataract    microphthalmia    acromesomelic dysplasia    microphthalmia with cataract 2
    isolated microphthalmia    matthew-wood syndrome    primary angle-closure glaucoma    coloboma
    cataract    eye disease    retinitis pigmentosa    glaucoma
    choroiditis    retinitis    retinoblastoma    tonsillitis

    2 diseases from the University of Copenhagen DISEASES database for VSX2:
    Microphthalmia     Coloboma

    VSX2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for VSX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microphthalmia 87.2 11 18385794 (3), 15257456 (2), 18039390 (1), 17167404 (1) (see all 8)
    anophthalmia 86 9 18385794 (3), 19397404 (2), 15257456 (2), 18039390 (1) (see all 5)

    GeneTests: VSX2
    GeneReviews: VSX2
    Genetic Association Database (GAD): VSX2
    Human Genome Epidemiology (HuGE) Navigator: VSX2 (4 documents)

    Export disorders for VSX2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for VSX2 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with VSX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. (PubMed id 18648522)1, 4, 9 Aung T....Vithana E.N. (Mol. Vis. 2008)
    2. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. (PubMed id 15257456)1, 2, 9 Bar-Yosef U.... Birk O.S. (Hum. Genet. 2004)
    3. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1, 4, 9 Zhang X....Zhang Q. (Mol. Vis. 2009)
    4. VSX2 mutations in autosomal recessive microphthalmia. (PubMed id 21976963)1, 2 Reis L.M.... Semina E.V. (Mol. Vis. 2011)
    5. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (PubMed id 20494911)1, 4 Gonzalez-Rodriguez J....Zenteno J.C. (Br J Ophthalmol 2010)
    6. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
    7. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. (PubMed id 10932181)1, 2 Percin E.F....McInnes R.R. (Nat. Genet. 2000)
    8. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (Genomics 1990)
    9. Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1. (PubMed id 15647262)1, 9 Dorval K.M....Bremner R. (J. Biol. Chem. 2005)
    10. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (PubMed id 18385794)1, 9 Zhou J....Young T.L. (Mol. Vis. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 338917 HGNC: 1975 AceView: CHX10 Ensembl:ENSG00000119614 euGenes: HUgn338917
    ECgene: VSX2 H-InvDB: VSX2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for VSX2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=VSX2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for VSX2 gene:
    Search GeneIP for patents involving VSX2

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



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