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

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)
 Explore 18 diseases affiliated with
VSX2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for VSX2    

Aliases
for VSX2 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 21 2     MCOP22 5
CHX101 2 3 5     MCOPCB32 5
HOX101 2 3 5     C Elegans Ceh-10 Homeo Domain-Containing Homolog1
RET11 2     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     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


Summaries
for VSX2 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 VSX2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 plasmid: VSX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for VSX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for VSX2 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: VSX2_HUMAN, P58304 (See protein sequence)
Recommended Name: Visual system homeobox 2  
Size: 361 amino acids; 39411 Da
Subcellular location: Nucleus
Secondary accessions: A1A4X6

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P58304

    • VSX2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_878314.1  
    ENSEMBL proteins: 
     ENSP00000261980  

    Human Recombinant Protein Products: 
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    Novus Biologicals VSX2 Protein
    Novus Biologicals VSX2 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for VSX2

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

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


    VSX2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for VSX2

    Protein Domains /
    Families
    for VSX2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    VSX2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR003654 OAR_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like
     IPR023339 CVC

    Graphical View of Domain Structure for InterPro Entry P58304

    ProtoNet protein and cluster: P58304

    1 Blocks protein family: 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


    Function
    for VSX2 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: 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)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VSX2
    8/22 QIAGEN miScript miRNA 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 plasmid: VSX2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VSX2
    OriGene shRNA RFP: VSX2
    OriGene siRNA: VSX2
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VSX2 

    Cell Line
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    Search LifeMap BioReagents cell lines for VSX2

    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--


    VSX2 for ontologies           About GeneDecksing


    Animal Models:
         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


    Pathways & Interactions
    for VSX2 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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VSX2

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

    2 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
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007601visual perception IEA--
    GO:0008284positive regulation of cell proliferation IEA--
    GO:0008285negative regulation of cell proliferation IEA--
    GO:0043010camera-type eye development ----


    VSX2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for VSX2 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 VSX2
    Search CenterWatch for drugs/clinical trials and news about VSX2 

    Transcripts
    for VSX2 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 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VSX2
    8/22 QIAGEN miScript miRNA 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 plasmid: VSX2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VSX2
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VSX2

    Additional cDNA sequence: 

    AY336059.1 BC128153.1 

    1 DOTS entry:

    DT.101978503 

    17 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    Expression
    for VSX2 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

    VSX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACAATGGGA

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

    VSX2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/20 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 20) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerBipolar Precursor CellsBipolar, Retina
    EyeInner Nuclear LayerMature Rod Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType1 Off Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType2 Off Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType3a Off Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType3b Off Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType4 Off Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType5 On Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType6 On Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType7 On Cone Bipolar CellsBipolar, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/14 LifeMap Cells (see all 14) 
    NameCategory
    Anterior neural specified EBs (Differentiation of h...)
    Optic cup structures (Generation of strati...)
    Neural retina aggregates (Generation of strati...)
    Optic cup (Generation of retina...)
    Retinal cells (Generation of retina...)
    Retinal progenitor-like cells (Generation of retina...)
    Pigmented epithelium cell clusters (Direct differentiati...)
    Retinal progenitor spheres (Generation of photor...)
    Rx-GFP+ cells (Generation of retina...)
    Neuronal progenitors (Generation of motor ...)

    See VSX2 Protein Expression from SPIRE MOPED and PaxDB
    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
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    Orthologs
    for VSX2 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 VSX2 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves VSX21 visual system homeobox 2 82.25(n)
    84.14(a)    		   395536  NM_204768.1  NP_990099.1 
    lizard
    (Anolis carolinensis)    		 Reptilia VSX26
    		 --
    		 68(a)
    		 1 ↔ 1
    		 1(23566104-23601930)
    zebrafish
    (Danio rerio)    		 Actinopterygii vsx22 visual system homeobox 2 protein 77.7(n)   64606  BC055588.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Vsx26
    Vsx16
    (see all 3)    		 Visual system homeobox 1 ortholog
    (see all 3)    		 21(a)
    16(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 X(5422960-5454216)
    X(5488306-5506266)
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-101 Protein CEH-10 51.85(n)
    54.27(a)    		   175811  NM_065850.1  NP_498251.1 


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

    Paralogs
    for VSX2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VSX2 gene
    ALX12  PITX12  PHOX2B2  RAX2  ARX2  VSX12  PRRX12  DRGX2  
    PITX22  PHOX2A2  ISX2  ALX42  RAX22  PITX32  ALX32  PRRX22  
    1 SIMAP similar gene for VSX2 using alignment to 1 protein entry:     VSX2_HUMAN:
    VSX1

    VSX2 for paralogs           About GeneDecksing



    Genomic Variants
    for VSX2 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

    10/588 NCBI SNPs in VSX2 are shown (see all 588)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219125431,2
    		Cpathogenic74726324(+) CCGTCA/C/GAGCCA 3 Q P R mis10--------
    rs1474724791,2
    		--74704213(+) ATCCTC/TATCTG 1 -- us2k10--------
    rs1383963611,2
    		--74704263(+) CACTCA/GCGTTT 1 -- us2k10--------
    rs1161914121,2
    		C,F,--74704290(+) CTGGCT/CCATCG 1 -- us2k11Minor allele frequency- C:0.10WA 118
    rs128780611,2
    		C,F,--74704348(+) ACATCC/TTCATC 1 -- us2k14Minor allele frequency- T:0.09NA 126
    rs1438301921,2
    		--74704370(+) GGTGGA/GCTGGC 1 -- us2k10--------
    rs1151418771,2
    		F,--74704383(+) GGAGAG/ATGGGC 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1472554621,2
    		--74704441(+) ATGCGC/TTGACT 1 -- us2k10--------
    rs1166752661,2
    		F,--74704495(+) ACATAA/TGTTTG 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1932189691,2
    		--74704514(+) TTAAAA/TGGGGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for VSX2 (74706175 - 74729441 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VSX2: --
    Human Gene Mutation Database (HGMD): VSX2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VSX2
    DNA2.0 Custom Variant and Variant Library Synthesis for VSX2

    Disorders / Diseases
    for VSX2 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
    VSX2 for disorders           About GeneDecksing

    OMIM gene information: 142993   
    OMIM disorders: 610092  610093  
    UniProtKB/Swiss-Prot: VSX2_HUMAN, P58304
  • Defects in VSX2 are the cause of microphthalmia isolated type 2 (MCOP2) [MIM:610093]; also known as isolated
    • clinical anophthalmia. Microphthalmia is a clinically heterogeneous 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, cataractand other abnormalities like cataract may also be present
  • Defects in VSX2 are the cause of microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]
  • Defects in VSX2 are the cause of microphthalmia isolated with coloboma type 3 (MCOPCB3) [MIM:610092]; also
    • known as isolated colobomatous microphthalmia 3. 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)

    18 diseases for VSX2:    About MalaCards
    microphthalmia cataract    microphthalmia    angle-closure glaucoma    anophthalmia/microphthalmia
    primary angle-closure glaucoma    microphthalmia, isolated 2    cataract    anophthalmia
    acromesomelic dysplasia    microphthalmia with coloboma 3    coloboma    glaucoma
    retinitis pigmentosa    eye disease    choroiditis    retinitis
    retinoblastoma    neuronitis

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

    2 Novoseek 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
    Anophthalmia/Microphthalmia

    Human Genome Epidemiology (HuGE) Navigator: VSX2 (4 documents)

    Export disorders for VSX2 gene to outside databases

    Publications
    for VSX2 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 VSX2 gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with VSX2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. (PubMed id 15257456)1, 2, 9 Bar-Yosef U.... Birk O.S. (2004)
    2. VSX2 mutations in autosomal recessive microphthalmia. (PubMed id 21976963)1, 2 Reis L.M....Semina E.V. (2011)
    3. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    4. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. (PubMed id 10932181)1, 2 Percin E.F....McInnes R.R. (2000)
    5. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (1990)
    6. Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1. (PubMed id 15647262)1, 9 Dorval K.M....Bremner R. (2005)
    7. Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. (PubMed id 18648522)1, 9 Aung T....Vithana E.N. (2008)
    8. 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. (2008)
    9. Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. (PubMed id 17661825)1, 9 Faiyaz-Ul-Haque M....Teebi A.S. (2007)
    10. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1, 9 Zhang X....Zhang Q. (2009)

    External Searches for VSX2 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 VSX2 gene

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

    Other Databases showing VSX2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing VSX2 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 VSX2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VSX2

    Intellectual Property
    for VSX2 gene

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



    Products
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