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

SIX6 Gene

protein-coding   GIFtS: 55
GCID: GC14P060975

SIX Homeobox 6

(Previous names: sine oculis homeobox (Drosophila) homolog 6, sine oculis...)
(Previous symbol: OPTX2)
  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
SIX Homeobox 61 2     Sine Oculis Homeobox (Drosophila) Homolog 61
OPTX21 2 3     Sine Oculis Homeobox Homolog 6 (Drosophila)1
Homeodomain Protein OPTX22 3     Six92
Optic Homeobox 22 3     Homeobox Protein SIX62
Sine Oculis Homeobox Homolog 62 3     SIX93
MCOPCT22 5     

External Ids:    HGNC: 108921   Entrez Gene: 49902   Ensembl: ENSG000001843027   OMIM: 6063265   UniProtKB: O954753   

Export aliases for SIX6 gene to outside databases

Previous GC identifers: GC14P058302 GC14P054770 GC14P058965 GC14P058966 GC14P060045 GC14P041139


(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 SIX6 Gene:
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene
product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye
development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2).
(provided by RefSeq, Jul 2008)

GeneCards Summary for SIX6 Gene: 
SIX6 (SIX homeobox 6) is a protein-coding gene. Diseases associated with SIX6 include microphthalmia with cataract 2, and microphthalmia cataract. 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 SIX4.

UniProtKB/Swiss-Prot: SIX6_HUMAN, O95475
Function: May be involved in eye development




(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 SIX6 gene promoter:
         Bach1   RP58   GCNF   C/EBPalpha   HEN1   S8   FOXJ2 (long isoform)   GCNF-1   FOXJ2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSIX6 promoter sequence
   Search SABiosciences Chromatin IP Primers for SIX6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIX6


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

Entrez Gene cytogenetic band: 14q23.1   Ensembl cytogenetic band:  14q23.1   HGNC cytogenetic band: 14q23.1

SIX6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIX6 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P060975:  view genomic region     (about GC identifiers)

Start:
60,975,669 bp from pter      End:
60,979,568 bp from pter
Size:
3,900 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: SIX6_HUMAN, O95475 (See protein sequence)
Recommended Name: Homeobox protein SIX6  
Size: 246 amino acids; 27687 Da
Subcellular location: Nucleus (By similarity)
Secondary accessions: Q6NT42 Q9P1X8

Explore the universe of human proteins at neXtProt for SIX6: NX_O95475

Explore proteomics data for SIX6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95475

  • SIX6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SIX6 Protein Expression
    REFSEQ proteins: NP_031400.2  
    ENSEMBL proteins: 
     ENSP00000328596  

    Human Recombinant Protein Products for SIX6: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for SIX6
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    OriGene Custom Protein Services for SIX6
    GenScript Custom Purified and Recombinant Proteins Services for SIX6
    Novus Biologicals SIX6 Protein
    Novus Biologicals SIX6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SIX6
    Cloud-Clone Corp. Proteins for SIX6 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    SIX6 for ontologies           About GeneDecksing



    SIX6 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SIX6 

    Assay Products for SIX6: 
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    Cloud-Clone Corp. ELISAs for SIX6 
    Cloud-Clone Corp. CLIAs for SIX6


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

    2 InterPro protein domains:
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry O95475

    ProtoNet protein and cluster: O95475

    1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: SIX6_HUMAN, O95475
    Similarity: Belongs to the SIX/Sine oculis homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    SIX6 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: SIX6_HUMAN, O95475
    Function: May be involved in eye development

         Genatlas biochemistry entry for SIX6:
    Drosophila sine oculis homolog SIX6 homeo box encoding gene,expressed in the developing and adult retina and in
    the hypohypothalamic and hypopituitary region

         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--
         
    SIX6 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Six6):
     endocrine/exocrine gland  nervous system  vision/eye 

    SIX6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SIX6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SIX6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SIX6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SIX6 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIX6
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate SIX6:
    hsa-miR-424 hsa-miR-4307 hsa-miR-15a hsa-miR-16 hsa-miR-195 hsa-miR-497 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidSIX6 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SIX6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX6

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of SIX6

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SIX6 (see all 6)
    OriGene ORF clones in mouse, rat for SIX6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SIX6 (NM_007374)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX6
    Sirion Biotech Customized lentivirus for stable overexpression of SIX6 
                         Customized lentivirus expression plasmids for stable overexpression of SIX6 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SIX6
    Search LifeMap BioReagents cell lines for SIX6
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX6


    (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 SIX6

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for SIX6 (O954753 ENSP000003285964) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AESQ081173, ENSP000002215614I2D: score=6 STRING: ENSP00000221561
    GTF2A1LQ9UNN43, ENSP000003845974I2D: score=2 STRING: ENSP00000384597
    DACH1Q9UI363, ENSP000003527124I2D: score=1 STRING: ENSP00000352712
    TLE1Q047243, ENSP000003656824I2D: score=3 STRING: ENSP00000365682
    TLE4Q047273I2D: score=4 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007601visual perception TAS10512683
    GO:0009887organ morphogenesis TAS10512683

    SIX6 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 SIX6

    Search CenterWatch for drugs/clinical trials and news about SIX6

    (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 SIX6 gene: 
    NM_007374.2  

    Unigene Cluster for SIX6:

    SIX homeobox 6
    Hs.194756  [show with all ESTs]
    Unigene Representative Sequence: NM_007374
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000327720(uc001xfa.4)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIX6
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate SIX6:
    hsa-miR-424 hsa-miR-4307 hsa-miR-15a hsa-miR-16 hsa-miR-195 hsa-miR-497 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidSIX6 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SIX6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX6
    Clone
    Products:
         
    OriGene clones in human, mouse for SIX6 (see all 6)
    OriGene ORF clones in mouse, rat for SIX6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SIX6 (NM_007374)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX6
    Sirion Biotech Customized lentivirus for stable overexpression of SIX6 
                         Customized lentivirus expression plasmids for stable overexpression of SIX6 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SIX6
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SIX6
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIX6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIX6

    Additional mRNA sequence: 

    AJ011785.1 BC065831.1 BC069413.1 BC087852.1 

    2 DOTS entries:

    DT.97839107  DT.97775362 

    24/41 AceView cDNA sequences (see all 41):

    CR605575 BM929996 CR598634 CR593154 BC065831 CR594317 BQ637470 AI332673 
    CD107910 CD107824 BM677219 CR609464 BX326375 BM721584 BM709688 BX347421 
    AJ011785 BX400691 BX399991 BX340899 BX369486 BM725143 BX346741 BX347023 

    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

    SIX6 expression in normal human tissues (normalized intensities)      SIX6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGCTGGTG
    SIX6 Expression
    About this image


    SIX6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             Substantia Nigra   
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Early Retinal Progenitor Cells Retinal Neuroblastic Layer
             Human Non-Pigment Ciliary Epithelial Cells (HNPCEpiC)   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Epithelium (Uncategorized)    fully expand to see all 2 entries
             Human Non-Pigment Ciliary Epithelial Cells (HNPCEpiC)   
     
     Neural Tube (Nervous System)
             Diencephalon

    See SIX6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIX6

    SOURCE GeneReport for Unigene cluster: Hs.194756

    UniProtKB/Swiss-Prot: SIX6_HUMAN, O95475
    Tissue specificity: Expressed in the developing and adult retina. Also expressed in the hypothalamic and the
    pituitary regions

        SABiosciences Expression via Pathway-Focused PCR Array including SIX6: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIX6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX6

    (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 SIX6 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Six61 , 5 sine oculis-related homeobox 6 homolog (Drosophila)5
    sine oculis-related homeobox 61
    90.11(n)1
    97.97(a)1
      12 (30.31 cM)5
    204761  NM_011384.41  NP_035514.11 
     729397245 
    chicken
    (Gallus gallus)
    Aves SIX61 SIX homeobox 6 84.01(n)
    93.5(a)
      395843  NM_204994.1  NP_990325.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIX66
    --
    Uncharacterized protein
    86(a)
    51(a)
    1 ↔ 1
    possible ortholog
    GL343261.1(930678-950818)
    GL343781.1(178186-183024)
    African clawed frog
    (Xenopus laevis)
    Amphibia six6-A2 sine oculis homeobox homolog 6 (Drosophila) 81.51(n)    BC042277.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc638712 similar to sine oculis-related homeobox 6 homolog (Drosophila) 78.47(n)   394080  BC053123.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Optix3 eye morphogenesis (sensu Drosophila)
    transcription more
    74(a)
    (best of 2)
      44A3   --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-321 , 3 homeobox protein (so subfamily)3
    Protein CEH-321
    65(a)
    (best of 4)3
    61.36(n)1
    66.48(a)1
      V(11704674-11706097)3
    1796031  NM_073557.31  NP_505958.11 


    ENSEMBL Gene Tree for SIX6 (if available)
    TreeFam Gene Tree for SIX6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SIX6 gene
    SIX42  SIX52  SIX22  SIX12  SIX32  
    7 SIMAP similar genes for SIX6 using alignment to 3 protein entries:     SIX6_HUMAN (see all proteins):
    SIX3    SIX1    SIX2    AREC3    SIX4    SIX5
    WUGSC

    SIX6 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

    10/103 SNPs in SIX6 are shown (see all 103)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0262414
    Microphthalmia, isolated, with cataract, 2 (MCOPCT2)4--see VAR_0262412 T A mis40--------
    rs1048944801,2
    Cpathogenic141961082(+) AGGCAA/GCCGGA 2 T A mis10--------
    rs113902971,2
    C--41142602(+) CAAGGC/-CCCCC 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1164325891,2
    C--41958515(+) CGCGGA/CTTCTC 1 -- us2k10--------
    rs1383616361,2
    --41958551(+) GTATCC/TGATGT 1 -- us2k10--------
    rs1164231671,2
    C,F--41958654(+) TTTTGC/ACCCTG 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1492735621,2
    C--41958756(+) CAGGGC/TTTTTT 1 -- us2k10--------
    rs80047391,2
    C,F--41958846(+) TTGCCC/TTGCAC 1 -- us2k1 tfbs33Minor allele frequency- T:0.16WA CSA 121
    rs1816933171,2
    --41959040(+) CAAAAC/TGGTTT 1 -- us2k10--------
    rs1119690161,2
    C--41959121(-) ATCTCA/GTCTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SIX6 (60975669 - 60979568 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SIX6: --

    Human Gene Mutation Database (HGMD): SIX6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SIX6
    DNA2.0 Custom Variant and Variant Library Synthesis for SIX6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606326   
    OMIM disorders: 212550  
    UniProtKB/Swiss-Prot: SIX6_HUMAN, O95475
  • Microphthalmia, isolated, with cataract, 2 (MCOPCT2) [MIM:212550]: 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

  • 19 diseases for SIX6:    About MalaCards
    microphthalmia with cataract 2    microphthalmia cataract    14q22q23 microdeletion syndrome    six6-related eye disorders
    isolated microphthalmia    sox2-related eye disorders    branchiootorenal syndrome    anophthalmia/microphthalmia
    microphthalmia    hairy cell leukemia    posterior polar cataract    cataract
    coloboma    holoprosencephaly    choroiditis    t-cell leukemia
    glaucoma    retinitis    leukemia

    1 disease from the University of Copenhagen DISEASES database for SIX6:
    Microphthalmia

    SIX6 for disorders           About GeneDecksing

    GeneTests: SIX6
    GeneReviews: SIX6
    Genetic Association Database (GAD): SIX6
    Human Genome Epidemiology (HuGE) Navigator: SIX6 (3 documents)

    Export disorders for SIX6 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 SIX6 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with SIX6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. (PubMed id 10512683)1, 2, 3 Gallardo M.E....Rodriguez de Cordoba S. (1999)
    2. Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (PubMed id 15505031)1, 4, 9 Aijaz S....Hanson I. (2004)
    3. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1, 4 Zhang X....Zhang Q. (2009)
    4. Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. (PubMed id 15266624)1, 2 Gallardo M.E.... Bovolenta P. (2004)
    5. Six9 (Optx2), a new member of the Six gene family of transcription factors, is expressed at early stages of vertebrate ocular and pituitary development. (PubMed id 10381575)1, 2 Lopez-Rios J.... Bovolenta P. (1999)
    6. Genome-wide meta-analyses of multiancestry cohorts ide ntify multiple new susceptibility loci for refractive error and myopia. (PubMed id 23396134)1 Verhoeven V.J....Hammond C.J. (2013)
    7. A genome-wide association study in the Japanese popula tion confirms 9p21 and 14q23 as susceptibility loci for primary open angle glauc oma. (PubMed id 22419738)1 Osman W....Nakamura Y. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Common variants at 9p21 and 8q22 are associated with i ncreased susceptibility to optic nerve degeneration in glaucoma. (PubMed id 22570617)1 Wiggs J.L....Haines J.L. (2012)
    10. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1 Lango Allen H....Hirschhorn J.N. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4990 HGNC: 10892 AceView: SIX6 Ensembl:ENSG00000184302 euGenes: HUgn4990
    ECgene: SIX6 H-InvDB: SIX6

    (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 SIX6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SIX6

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SIX6 gene:
    Search GeneIP for patents involving SIX6

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



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