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

SIX6 Gene

protein-coding   GIFtS: 54
GCID: GC14P060975

SIX homeobox 6

(Previous names: sine oculis homeobox (Drosophila) homolog 6, sine oculis...)
(Previous symbol: OPTX2)
 Explore 20 diseases affiliated with
SIX6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SIX6    

Aliases
for SIX6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SIX Homeobox 61 2     MCOPCT22 5
OPTX21 2 3     Sine Oculis Homeobox (Drosophila) Homolog 61
Six91 2     Sine Oculis Homeobox Homolog 6 (Drosophila)1
Homeodomain Protein OPTX22 3     Homeobox Protein SIX62
Optic Homeobox 22 3     SIX93
Sine Oculis Homeobox Homolog 62 3     

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


Summaries
for SIX6 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 SIX6:
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)

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




Genomic Views
for SIX6 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 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 plasmid: SIX6 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

Proteins
for SIX6 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95475

    • SIX6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_031400.2  
    ENSEMBL proteins: 
     ENSP00000328596  

    Human Recombinant Protein Products: 
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    Novus Biologicals SIX6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



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    Uscn ELISAs and CLIAs for SIX6

    Protein Domains /
    Families
    for SIX6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SIX6 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry O95475

    ProtoNet protein and cluster: O95475

    1 Blocks protein family: 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


    Function
    for SIX6 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: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    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 plasmid: SIX6 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 SIX6 (see all 7)
    OriGene shRNA RFP: SIX6
    OriGene siRNA: SIX6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX6

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SIX6

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SIX6 (see all 3)
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    GenScript: all cDNA clones in your preferred vector: SIX6 (NM_007374)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX6 

    Cell Line
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    Search LifeMap BioReagents cell lines for SIX6

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX6

    Gene Ontology (GO): 3 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:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--


    SIX6 for ontologies           About GeneDecksing


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

    SIX6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SIX6 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 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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception TAS10512683
    GO:0009887organ morphogenesis TAS10512683


    SIX6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SIX6 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 SIX6
    Search CenterWatch for drugs/clinical trials and news about SIX6 

    Transcripts
    for SIX6 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 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
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    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 plasmid: SIX6 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 SIX6 (see all 7)
    OriGene shRNA RFP: SIX6
    OriGene siRNA: SIX6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX6
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, 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 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIX6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIX6

    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.97839107  DT.97775362 

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

    BM677219 BM929996 CR609464 CD107824 BQ637470 CR594317 CD107910 AI332673 
    CR598634 CR605575 CR593154 BC065831 BX400691 BV207793 BX347023 BC069413 
    BQ186581 BX422092 BX340899 BX366211 BX347421 BM725143 BM677196 BU743202 

    GeneLoc Exon Structure


    Expression
    for SIX6 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

    SIX6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGGCTGGTG

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

    SIX6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeNeuroblastic LayerEarly Retinal Progenitor CellsRetina
    EyeNeuroblastic LayerLate Retinal Progenitor CellsRetina
    BoneMaxillary ProcessBone
    Head MesenchymeFrontonasal ProcessHead Mesenchyme
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    Neural rosettes (Generation of photor...)
    Rx-GFP+ cells (Generation of retina...)
    N2-induced embryoid bodies (Generation of photor...)
    N2/LSB/S/F8-induced cells (Generation of midbra...)
    Ventral/hypothalamic-like neurons (Generation of midbra...)

    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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    In Situ
    Assay Products:     
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    Orthologs
    for SIX6 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 SIX6 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 SIX61 SIX homeobox 6 84.01(n)
    93.5(a)    		   395843  NM_204994.1  NP_990325.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SIX66
    --
    		 --
    		 85(a)
    52(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343261.1(933150-950821)
    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
    for SIX6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SIX6 gene
    SIX42  SIX52  SIX22  SIX32  SIX12  
    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



    Genomic Variants
    for SIX6 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

    10/86 NCBI SNPs in SIX6 are shown (see all 86)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs80047391,2
    		C,--41137959(+) TTGCCC/TTGCAC 1 -- us2k1 tfbs33Minor allele frequency- T:0.16WA CSA 121
    rs1119690161,2
    		C--41138234(-) ATCTCA/GTCTGG 1 -- us2k10--------
    rs733074481,2
    		C,--41138779(+) GCGTTG/ATCAGA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs789541121,2
    		C,--41139979(+) GGCTTC/G/TAAGCA 3 Q E * mis1 stg11NA 4536
    rs1048944801,2
    		C--41140195(+) AGGCAA/GCCGGA 2 T A mis10--------
    rs789787261,2
    		C,--41140235(+) CAAAAA/CCCGCC 2 N T mis10--------
    rs771569951,2
    		C,F,--41140529(+) CTTCAC/GTGGGA 1 -- int11Minor allele frequency- G:0.02NA 120
    rs757770651,2
    		F,--41140869(+) CCAAAC/TATTTT 1 -- int11Minor allele frequency- T:0.04EA 120
    rs347875141,2
    		F--41141469(+) GGCGTC/TGCCAC 2 V syn11Minor allele frequency- T:0.18NA 38
    rs733074551,2
    		C,--41142142(+) TTCTTA/CTTATT 1 -- int12Minor allele frequency- C:0.03WA 120

    HapMap Linkage Disequilibrium report for SIX6 (60975669 - 60979568 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SIX6: --
    Human Gene Mutation Database (HGMD): SIX6

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SIX6
    DNA2.0 Custom Variant and Variant Library Synthesis for SIX6

    Disorders / Diseases
    for SIX6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SIX6 for disorders           About GeneDecksing

    OMIM gene information: 606326   
    OMIM disorders: 212550  
    UniProtKB/Swiss-Prot: SIX6_HUMAN, O95475
  • Defects in SIX6 are the cause of microphthalmia isolated with cataract type 2 (MCOPCT2) [MIM:212550].
    • 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

    20 diseases for SIX6:    About MalaCards
    microphthalmia cataract    microphthalmia    anophthalmia/microphthalmia    cataract
    primary open anle glaucoma    posterior polar cataract    isolated microphthalmia    anophthalmia
    microphthalmia with cataract 2    branchiootorenal syndrome    hairy cell leukemia    holoprosencephaly
    coloboma    t-cell leukemia    glaucoma    choroiditis
    pharyngitis    leukemia    retinitis    neuronitis

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

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

    Export disorders for SIX6 gene to outside databases

    Publications
    for SIX6 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 SIX6 gene, integrated from 9 sources (see all 23):
    (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. Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. (PubMed id 15266624)1, 2 Gallardo M.E.... Bovolenta P. (2004)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
    10. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1 Zhang X....Zhang Q. (2009)

    External Searches for SIX6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing SIX6 gene

    (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

    Other Databases showing SIX6 gene

    (According to HUGE)
    About This Section
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    Specialized Databases showing SIX6 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 SIX6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SIX6

    Intellectual Property
    for SIX6 gene

    (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

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