Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

VSX2 Gene

protein-coding   GIFtS: 54
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  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 plasmidVSX2 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for VSX2 at MOPED 

Post-translational modifications:

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

  • VSX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VSX2 Protein Expression
    REFSEQ proteins: NP_878314.1  
    ENSEMBL proteins: 
     ENSP00000261980  

    Human Recombinant Protein Products for VSX2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for VSX2
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for VSX2
    GenScript Custom Purified and Recombinant Proteins Services for VSX2
    Novus Biologicals VSX2 Protein
    Novus Biologicals VSX2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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



    VSX2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of VSX2
    Browse R&D Systems for Antibodies
    OriGene Antibodies for VSX2
    OriGene Custom Antibody Services for VSX2
    GenScript Custom Superior Antibodies Services for VSX2
    Novus Biologicals VSX2 Antibodies
    Abcam antibodies for VSX2
    Cloud-Clone Corp. Antibodies for VSX2 
    ThermoFisher Antibodies for VSX2
    LSBio Antibodies in human, mouse, rat for VSX2 

    Assay Products for VSX2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for VSX2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for VSX2
    Browse Enzo Life Sciences for kits & assays
    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)
    About This Section
    HGNC Gene Families: 
    PRD: Homeoboxes / PRD class

    5 InterPro protein domains:
     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 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for VSX2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    miRNA
    Products:
        
    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 plasmidVSX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for VSX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VSX2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for VSX2
    Sirion Biotech Customized adenovirus for overexpression of VSX2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for VSX2 (see all 6)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of VSX2 
                         Customized lentivirus expression plasmids for stable overexpression of VSX2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for VSX2
    Search LifeMap BioReagents cell lines for VSX2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VSX2


    (Pathways according to EMD Millipore, 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 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 Oct 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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    Products:
         
    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 plasmidVSX2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for VSX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VSX2
    Clone
    Products:
         
    OriGene clones in human, mouse for VSX2 (see all 6)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of VSX2 
                         Customized lentivirus expression plasmids for stable overexpression of VSX2 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for VSX2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat VSX2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VSX2
      QIAGEN 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:

    AY336059 BU726660 BM709651 BQ639470 BU734140 NM_182894 BM672563 BM695822 
    CA395285 BM687954 BM704051 BM690185 BU736665 BF516368 BQ636604 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™, 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)      VSX2 embryonic expression: see
    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 
     5/20 selected tissues (see all 20) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 23 entries
             Bipolar Precursor Cells Inner Nuclear Layer
             Retina
             Pigmented epithelium cell clusters ( Direct differentiation of human embryonic stem...
             Human Non-Pigment Ciliary Epithelial Cells (HNPCEpiC)   
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             Olfactory Bulb   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Spinal Cord (Nervous System)    fully expand to see all 4 entries
             Motor neuron-like cells ( Generation of motor neurons using a human GFP-reporter...
             Dorsal Horn   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             V2 Interneurons pV2 Neural Domain
             Primitive Spinal Cord

    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

        SABiosciences Custom PCR Arrays for VSX2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for VSX2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat VSX2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VSX2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VSX2
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for VSX2 gene from 6/12 species (see all 12)    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 82.25(n)
    84.14(a)
      395536  NM_204768.1  NP_990099.1 
    lizard
    (Anolis carolinensis)
    Reptilia VSX26
    Uncharacterized protein
    70(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
    Visual system homeobox 1 ortholog
    18(a)
    13(a)
    many ↔ many
    many ↔ many
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VSX2 gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  HESX12  RHOXF22  PITX22  
    RHOXF12  PITX32  DMBX12  ESX12  GSC22  OTX12  CRX2  RHOXF2B2  
    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) 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

    10/694 SNPs in VSX2 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 17 diseases for VSX2:    About MalaCards
    microphthalmia, isolated 2    vsx2-related isolated microphthalmia    microphthalmia with coloboma 3    microphthalmia cataract
    microphthalmia    anophthalmia/microphthalmia    primary angle-closure glaucoma    acromesomelic dysplasia
    coloboma    cataract    eye disease    glaucoma
    retinitis pigmentosa    choroiditis    retinitis    retinoblastoma
    neuronitis

    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)
    About This Section

    PubMed articles for VSX2 gene, integrated from 9 sources (see all 41):
    (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. (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. (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. (2009)
    4. VSX2 mutations in autosomal recessive microphthalmia. (PubMed id 21976963)1, 2 Reis L.M....Semina E.V. (2011)
    5. Mutational screening of CHX10, GDF6, OTX2, RAX and SO X2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum ca ses. (PubMed id 20494911)1, 4 Gonzalez-Rodriguez J....Zenteno J.C. (2010)
    6. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    7. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. (PubMed id 10932181)1, 2 Percin E.F....McInnes R.R. (2000)
    8. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (1990)
    9. Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1. (PubMed id 15647262)1, 9 Dorval K.M....Bremner R. (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. (2008)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of VSX2
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for VSX2   OriGene RNAi products in human, mouse, rat for VSX2  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for VSX2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for VSX2  
     OriGene qSTAR qPCR primer pairs in human, mouse for VSX2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for VSX2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for VSX2   OriGene Custom Protein Services for VSX2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat VSX2
     QIAGEN SeqTarget long-range PCR primers for resequencing VSX2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VSX2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VSX2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VSX2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VSX2
     GenScript Custom Purified and Recombinant Proteins Services for VSX2 GenScript cDNA clones with any tag delivered in your preferred vector for VSX2
     GenScript Custom Assay Services for VSX2 GenScript Custom Superior Antibodies Services for VSX2
     GenScript Custom overexpressing Cell Line Services for VSX2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in VSX2 promoter
     Search Chromatin IP Primers for VSX2
     RT2 qPCR Primer Assay in human, mouse, rat VSX2
     GNC Network for VSX2
     SABiosciences Custom PCR Arrays for VSX2
     Search Tocris compounds for VSX2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     VSX2 antibodies
     VSX2 proteins
     VSX2 lysates
     Antibodies for VSX2
     See all of Abcam's Antibodies, Kits and Proteins for VSX2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for VSX2
     Antibodies for VSX2
     ELISAs for VSX2
     CLIAs for VSX2
     Search LifeMap BioReagents cell lines for VSX2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VSX2
     SwitchGear 3'UTR luciferase reporter plasmids for VSX2
     SwitchGear Promoter luciferase reporter plasmids for VSX2
     ThermoFisher Antibodies for VSX2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VSX2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for VSX2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for VSX2
    Customized:
     lentivirus for stable overexpression of VSX2
     lentivirus expression plasmids for stable overexpression of VSX2
     adenovirus for overexpression of VSX2
     LSBio Antibodies in human, mouse, rat for VSX2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      VSX2 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4