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VSX1 Gene

protein-coding   GIFtS: 51
GCID: GC20M025051

Visual System Homeobox 1

(Previous names: posterior polymorphous corneal dystrophy, visual system...)
(Previous symbol: PPCD)
  See VSX1-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 11 2     KTCN12 5
PPCD1 2 5     PPD2 5
RINX2 3 5     Posterior Polymorphous Corneal Dystrophy1
Homeodomain Protein RINX2 3     Visual System Homeobox 1 Homolog, CHX10-Like (Zebrafish)1
Retinal Inner Nuclear Layer Homeobox Protein2 3     KTCN2
Transcription Factor VSX12 3     PPCD12
CAASDS2 5     

External Ids:    HGNC: 127231   Entrez Gene: 308132   Ensembl: ENSG000001009877   OMIM: 6050205   UniProtKB: Q9NZR43   

Export aliases for VSX1 gene to outside databases

Previous GC identifers: GC20M025044 GC20M025004


(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 VSX1 Gene:
The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control
region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone
opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and
keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. (provided
by RefSeq, Jul 2008)

GeneCards Summary for VSX1 Gene:
VSX1 (visual system homeobox 1) is a protein-coding gene. Diseases associated with VSX1 include astigmatism, and corneal dystrophy, hereditary polymorphous posterior. 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: VSX1_HUMAN, Q9NZR4
Function: Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster.
May regulate the activity of the LCR and the cone opsin genes at earlier stages of development

Gene Wiki entry for VSX1 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 at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the VSX1 gene promoter:
         Egr-2   AREB6   C/EBPbeta   p300   STAT5A   CUTL1   Cdc5   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVSX1 promoter sequence
   Search Chromatin IP Primers for VSX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VSX1


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

Entrez Gene cytogenetic band: 20p11.21   Ensembl cytogenetic band:  20p11.21   HGNC cytogenetic band: 20p11.21

VSX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VSX1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M025051:  view genomic region     (about GC identifiers)

Start:
25,051,521 bp from pter      End:
25,062,996 bp from pter
Size:
11,476 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: VSX1_HUMAN, Q9NZR4 (See protein sequence)
Recommended Name: Visual system homeobox 1  
Size: 365 amino acids; 38431 Da
Secondary accessions: B9EGJ4 D1MF28 Q0GM60 Q0GM61 Q0GM62 Q0GM63 Q0GM64 Q0GM65 Q5TF40 Q5TF41
Q9HCU3 Q9NU27
Alternative splicing: 8 isoforms:  Q9NZR4-1   Q9NZR4-2   Q9NZR4-3   Q9NZR4-4   Q9NZR4-5   Q9NZR4-6   Q9NZR4-7   Q9NZR4-8   
(Minor form)

Explore the universe of human proteins at neXtProt for VSX1: NX_Q9NZR4

Explore proteomics data for VSX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See VSX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001243200.1  NP_001243201.1  NP_055403.2  NP_955457.1  

    ENSEMBL proteins: 
     ENSP00000401690   ENSP00000387069   ENSP00000386612   ENSP00000387720   ENSP00000365899  
     ENSP00000365897   ENSP00000399496   ENSP00000389654   ENSP00000381376  

    VSX1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for VSX1

     
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    antibodies-online peptides for VSX1

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    antibodies-online antibodies for VSX1 (23 products) 

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    (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

    4 InterPro protein domains:
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like
     IPR023339 CVC

    Graphical View of Domain Structure for InterPro Entry Q9NZR4

    ProtoNet protein and cluster: Q9NZR4

    UniProtKB/Swiss-Prot: VSX1_HUMAN, Q9NZR4
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 CVC domain
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with VSX1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VSX1_HUMAN, Q9NZR4
    Function: Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster.
    May regulate the activity of the LCR and the cone opsin genes at earlier stages of development

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with VSX1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Vsx1):
     behavior/neurological  nervous system  vision/eye 

    Find genes that share phenotypes with VSX1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for VSX1: Vsx1tm1Bhr Vsx1tm1Mci

       genOway: Develop your customized and physiologically relevant rodent model for VSX1

    miRNA
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    Block miRNA regulation of human, mouse, rat VSX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VSX1 (see all 24):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidVSX1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VSX1

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VSX1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VSX1


    (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
    VSX1_HUMAN, Q9NZR4: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    extracellular2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--

    Find genes that share ontologies with VSX1           About GenesLikeMe


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including VSX1: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for VSX1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for VSX1 (Q9NZR43 ENSP000003658994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NKX2-1P436993, ENSP000003468794I2D: score=1 STRING: ENSP00000346879
    RB1ENSP000002671634STRING: ENSP00000267163
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007601visual perception IEA--
    GO:0042551neuron maturation IEA--
    GO:0048666neuron development ----

    Find genes that share ontologies with VSX1           About GenesLikeMe



    (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 VSX1



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for VSX1 gene (4 alternative transcripts): 
    NM_001256271.1  NM_001256272.1  NM_014588.5  NM_199425.2  

    Unigene Cluster for VSX1:

    Visual system homeobox 1
    Hs.274264  [show with all ESTs]
    Unigene Representative Sequence: NR_045948
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000429762(uc010gdd.2) ENST00000409958(uc010gde.2) ENST00000409285(uc002wue.3)
    ENST00000444511(uc010gdf.2) ENST00000376709(uc002wuf.3) ENST00000557285
    ENST00000376707(uc002wug.1) ENST00000424574 ENST00000451258 ENST00000398332

    miRNA
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    Block miRNA regulation of human, mouse, rat VSX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VSX1 (see all 24):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidVSX1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VSX1
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    OriGene ORF clones in mouse, rat for VSX1
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    GenScript: all cDNA clones in your preferred vector (see all 2): VSX1 (NM_199425)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VSX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VSX1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for VSX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VSX1
      QuantiTect SYBR Green Assays in human, mouse, rat VSX1
      QuantiFast Probe-based Assays in human, mouse, rat VSX1

    Additional mRNA sequence: 

    AF176797.2 AF251033.1 AF251034.1 BC126228.1 BC136497.1 DQ854807.1 DQ854808.1 DQ854809.1 
    DQ854810.1 DQ854811.1 DQ854812.1 NR_045948.1 NR_045951.1 

    7 DOTS entries:

    DT.91750714  DT.40112429  DT.120814007  DT.120814013  DT.97824180  DT.120814010  DT.97824338 

    11 AceView cDNA sequences:

    BM696145 NM_199425 NM_014588 AF251033 AF176797 AF251034 AV722789 BM712470 
    H87056 BQ640533 H87757 

    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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    VSX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGAATTAT
    VSX1 Expression
    About this image


    VSX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             Type7 On Cone Bipolar Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Type7 On Cone Bipolar Cells Inner Nuclear Layer
    VSX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VSX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.274264

    UniProtKB/Swiss-Prot: VSX1_HUMAN, Q9NZR4
    Tissue specificity: In the adult eye, expressed in lens, iris, ciliary body, choroid, optical nerve head and, most
    strongly, in retina, but not expressed in sclera and cornea. According to PubMed 11978762, expressed in adult
    retina but not in lens and cornea. Within adult retina, found exclusively in the inner nuclear layer. Isoform 1,
    isoform 2, isoform 3 and isoform 4 expressed in adult retina, but not in brain, heart, kidney, liver, lung,
    pancreas, placenta and skeletal muscle. Not expressed in thymus and spleen. Expressed in embryonic craniofacial
    tissue. Expressed in fetal (week 14) retina. Strongly expressed in neonatal retina (day 0), weakly in neonatal
    lens (day 0), choroid (day 0) and cornea (day 0, 4; month 9)

        Pathway & Disease-focused RT2 Profiler PCR Array including VSX1: 
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (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 VSX1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vsx11 , 5 visual system homeobox 1 homolog (zebrafish)1, 5 78.25(n)1
    76.84(a)1
      2 (74.74 cM)5
    1148891  NM_054068.21  NP_473409.11 
     1506806995 
    chicken
    (Gallus gallus)
    Aves VSX11 visual system homeobox 1 68.83(n)
    65.19(a)
      395537  NM_204769.1  NP_990100.1 
    lizard
    (Anolis carolinensis)
    Reptilia VSX16
    visual system homeobox 1
    56(a)
    1 ↔ 1
    1(254471865-254488416)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.235602 Xenopus laevis, clone IMAGE5572725, mRNA 76.18(n)    BC044049.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC059574.12   -- 75.75(n)   30598  BC059574.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG157823 transcription factor 74(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-103 Expression: embryo, L1 larva, L2 larva,
    L3 larva, more
    73(a)   III(5870848-5872824)   --


    ENSEMBL Gene Tree for VSX1 (if available)
    TreeFam Gene Tree for VSX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VSX1 gene
    GSC2  PITX12  OTX22  UNCX2  HESX12  PITX22  VSX22  PROP12  
    PITX32  DMBX12  GSC22  CRX2  OTX12  MIXL12  
    2 SIMAP similar genes for VSX1 using alignment to 2 protein entries:     VSX1_HUMAN (see all proteins):
    RAX2    VSX2

    Find genes that share paralogs with VSX1           About GenesLikeMe



    (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 VSX1 (see all 337)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743154351,2,,4
    CCraniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS)4 pathogenic125008985(-) ACTCCG/TCCGAG 2 A S mis10--------
    rs1401222681,2,,4
    C,FKeratoconus 1 (KTCN1)4 --25010763(+) TGGCTG/CTCCTC 4 /D /E mis12Minor allele frequency- C:0.00NA EU 5427
    VAR_0142444
    Keratoconus 1 (KTCN1)4--see VAR_0142442 L M mis40--------
    VAR_0666704
    Keratoconus 1 (KTCN1)4--see VAR_0666702 L P mis40--------
    VAR_0631004
    Keratoconus 1 (KTCN1)4--see VAR_0631002 Q H mis40--------
    VAR_0142464
    Keratoconus 1 (KTCN1)4--see VAR_0142462 R W mis40--------
    rs743154321,2
    Cpathogenic125010699(-) AGCGGC/TGGCAC 4 R W mis11Minor allele frequency- T:0.00NA 4530
    rs743154331,2,,4
    C,Fpathogenic125010716(-) CTTGGA/G/TCAAGA 4 D G mis12NA EU 5519
    rs743154361,2
    Cpathogenic125013300(-) GGCGCC/TGGTGC 4 P L mis10--------
    rs743154341,2
    Cunknown125010720(-) CCACCA/TTGGGC 4 M L mis10--------

    HapMap Linkage Disequilibrium report for VSX1 (25051521 - 25062996 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for VSX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912826CNV Loss21882294
    nsv522873CNV Gain19592680

    Human Gene Mutation Database (HGMD): VSX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VSX1
    DNA2.0 Custom Variant and Variant Library Synthesis for VSX1

    (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: 605020   
    OMIM disorders: 148300  122000  614195  
    UniProtKB/Swiss-Prot: VSX1_HUMAN, Q9NZR4
  • Corneal dystrophy, posterior polymorphous, 1 (PPCD1) [MIM:122000]: A rare corneal disorder characterized
    by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered
    corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from
    very aggressive to asymptomatic and non-progressive, even within the same family. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Keratoconus 1 (KTCN1) [MIM:148300]: Frequent corneal dystrophy with an incidence that varies from 50 to
    230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the
    corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and
    autosomal recessive transmission. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) [MIM:614195]: A disorder with
    extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal
    endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior
    encephalocele, and/or hydrocephalus. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 12 diseases for VSX1:    
    About MalaCards
    astigmatism    corneal dystrophy, hereditary polymorphous posterior    posterior polymorphous corneal dystrophy    regular astigmatism
    keratoconus 1    craniofacial anomalies and anterior segment dysgenesis syndrome    corneal ectasia    keratoconus
    corneal edema    fuchs' endothelial dystrophy    irregular astigmatism    corneal dystrophy

    8 diseases from the University of Copenhagen DISEASES database for VSX1:
    Keratoconus     Corneal ectasia     Corneal dystrophy     Irregular astigmatism
    Corneal edema     Regular astigmatism     Glaucoma     Alport syndrome

    Find genes that share disorders with VSX1           About GenesLikeMe

    2 Novoseek inferred disease relationships for VSX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    posterior polymorphous corneal dystrophy 97.5 4 15623752 (1), 16303937 (1), 15725882 (1), 19507099 (1)
    keratoconus 81 11 18626569 (4), 15623752 (3), 16799019 (2), 18253095 (1) (see all 5)

    Genetic Association Database (GAD): VSX1
    Human Genome Epidemiology (HuGE) Navigator: VSX1 (8 documents)

    Export disorders for VSX1 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 VSX1 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with VSX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. (PubMed id 10673340)1, 2, 3, 9 Semina E.V.... Murray J.C. (Genomics 2000)
    2. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. (PubMed id 15623752)1, 2, 4, 9 Bisceglia L.... Zelante L. (Invest. Ophthalmol. Vis. Sci. 2005)
    3. A novel VSX1 mutation identified in an individual with keratoconus in India. (PubMed id 19956409)1, 2, 4 Paliwal P.... Sharma A. (Mol. Vis. 2009)
    4. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. (PubMed id 15051220)1, 2, 9 Mintz-Hittner H.A....Murray J.C. (Ophthalmology 2004)
    5. RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina. (PubMed id 10903837)1, 2, 9 Hayashi T.... Deeb S.S. (Genomics 2000)
    6. VSX1 gene variants are associated with keratoconus in unrelated Korean patients. (PubMed id 18626569)1, 4, 9 Mok J.W....Joo C.K. (J. Hum. Genet. 2008)
    7. Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. (PubMed id 18253095)1, 2, 9 Hosseini S.M.... Heon E. (Mol. Vis. 2008)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Genetics and clinical characteristics of keratoconus. (PubMed id 20664914)1, 4 Stabuc-Silih M....Glavac D. (Acta Dermatovenerol Alp Panonica Adriat 2010)
    10. VSX1 gene analysis in keratoconus. (PubMed id 21139977)1, 4 Tanwar M....Dada R. (Mol. Vis. 2010)

    (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: 30813 HGNC: 12723 AceView: VSX1 Ensembl:ENSG00000100987 euGenes: HUgn30813
    ECgene: VSX1 H-InvDB: VSX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for VSX1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=VSX1[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 VSX1 gene:
    Search GeneIP for patents involving VSX1

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



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