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

VSX1 Gene

protein-coding   GIFtS: 49
GCID: GC20M025051

visual system homeobox 1

(Previous names: posterior polymorphous corneal dystrophy, visual system...)
(Previous symbol: PPCD)
 Explore 19 diseases affiliated with
VSX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for VSX1    

Aliases
for VSX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Visual System Homeobox 11 2     Transcription Factor VSX12 3
PPCD1 2 5     KTCN2 5
PPD1 2 5     Posterior Polymorphous Corneal Dystrophy1
RINX2 3 5     Visual System Homeobox 1 Homolog, CHX10-Like (Zebrafish)1
Homeodomain Protein RINX2 3     CAASDS2
Retinal Inner Nuclear Layer Homeobox Protein2 3     KTCN12

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


Summaries
for VSX1 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 VSX1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences 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 plasmid: VSX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for VSX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for VSX1 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: VSX1_HUMAN, Q9NZR4 (See protein sequence)
Recommended Name: Visual system homeobox 1  
Size: 365 amino acids; 38431 Da
Subcellular location: Nucleus (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NZR4

    • VSX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

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    Uscn Proteins for VSX1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    VSX1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for VSX1

    Protein Domains /
    Families
    for VSX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    VSX1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     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


    Function
    for VSX1 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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VSX1
    8/24 QIAGEN miScript miRNA 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 plasmid: VSX1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VSX1 (see all 7)
    OriGene shRNA RFP: VSX1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VSX1

    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for VSX1

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 2 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 IEA--
    GO:0043565sequence-specific DNA binding IEA--


    VSX1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for VSX1: Vsx1tm1Bhr Vsx1tm1Mci
         3 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Vsx1):
     behavior/neurological  nervous system  vision/eye 

    VSX1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for VSX1 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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VSX1

    1 Interacting protein for VSX1 (Q9NZR43) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NKX2-1P436993I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

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


    VSX1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for VSX1 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 VSX1
    Search CenterWatch for drugs/clinical trials and news about VSX1 

    Transcripts
    for VSX1 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 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VSX1
    8/24 QIAGEN miScript miRNA 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 plasmid: VSX1 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 VSX1 (see all 7)
    OriGene shRNA RFP: VSX1
    OriGene siRNA: VSX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VSX1
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VSX1 (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): VSX1 (NM_199425)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VSX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VSX1

    Additional cDNA 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 AF176797 BM712470 AF251034 AF251033 AV722789 
    H87056 BQ640533 H87757 

    GeneLoc Exon Structure


    Expression
    for VSX1 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

    VSX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATGAATTAT

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

    VSX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerCone Bipolar Precursor CellsBipolar, Retina
    EyeInner Nuclear LayerType2 Off Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType7 On Cone Bipolar CellsBipolar, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See VSX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VSX1

    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)

        SABiosciences Expression via Pathway-Focused PCR Array including VSX1: 
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
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    Orthologs
    for VSX1 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 VSX1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves VSX11 visual system homeobox 1 70.28(n)
    67.46(a)    		   395537  NM_204769.1  NP_990100.1 
    lizard
    (Anolis carolinensis)    		 Reptilia VSX16
    		 --
    		 52(a)
    		 1 ↔ 1
    		 1(254471865-254486137)
    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
    for VSX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VSX1 gene
    ALX12  PITX12  PHOX2B2  RAX2  ARX2  PRRX12  DRGX2  PITX22  
    PHOX2A2  VSX22  ISX2  ALX42  RAX22  PITX32  ALX32  PRRX22  
    2 SIMAP similar genes for VSX1 using alignment to 2 protein entries:     VSX1_HUMAN (see all proteins):
    RAX2    VSX2

    VSX1 for paralogs           About GeneDecksing



    Genomic Variants
    for VSX1 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

    10/272 NCBI SNPs in VSX1 are shown (see all 272)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743154351,2
    		C,pathogenic25015643(-) ACTCCG/TCCGAG 2 A S mis10--------
    rs743154321,2
    		Cpathogenic25017359(-) AGCGGC/TGGCAC 4 R W mis11Minor allele frequency- T:0.00NA 4530
    rs743154331,2
    		C,F,pathogenic25017376(-) CTTGGA/G/TCAAGA 6 D G V mis12NA EU 5519
    rs743154361,2
    		Cpathogenic25019963(-) GGCGCC/TGGTGC 4 P L mis10--------
    rs743154341,2
    		Cunknown25017380(-) CCACCA/TTGGGC 4 M L mis10--------
    rs791004961,2
    		C,F,--25012898(+) TAATAC/TAAGAA 1 -- ds50011Minor allele frequency- T:0.02NA 120
    rs60370141,2
    		C,F,A,--25013202(+) GAGTGT/AATCAG 1 -- ds50017Minor allele frequency- A:0.26NA WA CSA EA 366
    rs60503001,2
    		C,F,A,--25013277(+) AAAACA/GTGTCA 1 -- ds50017Minor allele frequency- G:0.25NA WA CSA EA 366
    rs60503011,2
    		--25013432(+) GGAAAC/TGCAGG 1 -- ut31 ese31Minor allele frequency- T:0.01WA 118
    rs764993951,2
    		C,--25013681(+) GAAAAT/CTGAAA 1 -- ut312Minor allele frequency- C:0.06NA 122

    HapMap Linkage Disequilibrium report for VSX1 (25051521 - 25062996 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VSX1: --
    Human Gene Mutation Database (HGMD): VSX1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VSX1
    DNA2.0 Custom Variant and Variant Library Synthesis for VSX1

    Disorders / Diseases
    for VSX1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    VSX1 for disorders           About GeneDecksing

    OMIM gene information: 605020   
    OMIM disorders: 148300  122000  
    UniProtKB/Swiss-Prot: VSX1_HUMAN, Q9NZR4
  • Defects in VSX1 are a cause of posterior polymorphous corneal dystrophy type 1 (PPCD1) [MIM:122000]. PPCD1 is
    • a slowly progressive hereditary disorder of the corneal endothelium that leads to a variable degree of visual
    impairment usually in adulthood
  • Defects in VSX1 are a cause of keratoconus type 1 (KTCN1) [MIM:148300]. Keratoconus type 1 is a 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
  • Defects in VSX1 are the cause of craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS)
    • [MIM:614195]. CAASDS is 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

    19 diseases for VSX1:    About MalaCards
    posterior polymorphous corneal dystrophy    craniofacial anomalies, empty sella turcica, corneal endothelial changes, and abnormal retinal and auditory bipolar cells    corneal dystrophy    corneal dystrophy, hereditary polymorphous posterior
    keratoconus    craniofacial anomalies    regular astigmatism    irregular astigmatism
    retinitis    corneal ectasia    astigmatism    encephalocele
    encephaloceles    corneal edema    corneal degeneration    macular degeneration
    glaucoma    choroiditis    neuronitis

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

    2 Novoseek 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

    Publications
    for VSX1 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 VSX1 gene, integrated from 9 sources (see all 39):
    (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. (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. (2005)
    3. 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. (2004)
    4. 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. (2000)
    5. 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. (2008)
    6. A novel VSX1 mutation identified in an individual with keratoconus in India. (PubMed id 19956409)1, 2 Paliwal P.... Sharma A. (2009)
    7. 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)
    8. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. (PubMed id 11978762)1, 2 Heon E....Stone E.M. (2002)
    9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    10. [Mutational analysis of VSX-1 in one patient with pos terior polymorphous corneal dystrophy and in three families with hereditary Fuc hs endothelial dystrophy] (PubMed id 19507099)1, 9 Clausen I....GrA1nauer-Kloevekorn C. (2009)

    External Searches for VSX1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing VSX1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 30813 HGNC: 12723 AceView: VSX1 Ensembl:ENSG00000100987 euGenes: HUgn30813
    ECgene: VSX1 H-InvDB: VSX1

    Other Databases showing VSX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing VSX1 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 VSX1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VSX1

    Intellectual Property
    for VSX1 gene

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