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

SIX3 Gene

protein-coding   GIFtS: 56
GCID: GC02P045168

SIX homeobox 3

(Previous names: holoprosencephaly 2, alobar or semilobar, sine oculis homeobox...)
(Previous symbol: HPE2)
 Explore 24 diseases affiliated with
SIX3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SIX3    

Aliases
for SIX3 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 31 2
HPE21 2 5
Sine Oculis Homeobox Homolog 32 3
Holoprosencephaly 2, Alobar Or Semilobar1
Sine Oculis Homeobox Homolog 3 (Drosophila)1
Homeobox Protein SIX32

External Ids:    HGNC: 108891   Entrez Gene: 64962   Ensembl: ENSG000001380837   OMIM: 6037145   UniProtKB: O953433   

Export aliases for SIX3 gene to outside databases

Previous GC identifers: GC02P045167 GC02P045337 GC02P045143 GC02P045080 GC02P045022 GC02P044885


Summaries
for SIX3 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 SIX3:
This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in
eye development. Mutations in this gene have been associated with holoprosencephaly type 2. (provided by RefSeq, Oct
2009)

UniProtKB/Swiss-Prot: SIX3_HUMAN, O95343
Function: May be involved in visual system development

Gene Wiki entry for SIX3


Genomic Views
for SIX3 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_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SIX3 gene promoter:
         AhR   Pax-5   Pbx1a   Bach2   LCR-F1   Arnt   Nkx6-1   POU2F1   Pax-4a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SIX3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SIX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIX3


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

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21

SIX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIX3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P045168:  view genomic region     (about GC identifiers)

Start:
 45,168,902 bp from pter      End:
 45,173,216 bp from pter
Size:
 4,315 bases      Orientation:
 plus strand

Proteins
for SIX3 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: SIX3_HUMAN, O95343 (See protein sequence)
Recommended Name: Homeobox protein SIX3  
Size: 332 amino acids; 35487 Da
Subcellular location: Nucleus
Secondary accessions: D6W5A5 Q53T42

Explore the universe of human proteins at neXtProt for SIX3: NX_O95343

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95343

    • SIX3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005404.1  
    ENSEMBL proteins: 
     ENSP00000260653  

    Human Recombinant Protein Products: 
    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: SIX3
    OriGene Custom Protein Services for SIX3 
    GenScript Custom Purified and Recombinant Proteins Services for SIX3
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SIX3

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

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


    SIX3 for ontologies           About GeneDecksing



    SIX3 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SIX3 
    GenScript Custom Superior Antibodies Services for SIX3
    Novus Biologicals SIX3 Antibodies
    Search for Antibodies for SIX3 at Abcam  
    Uscn Antibodies for SIX3
    Search ThermoFisher Antibodies for SIX3

    Assay Products for SIX3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SIX3
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SIX3

    Protein Domains /
    Families
    for SIX3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SIX3 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry O95343

    ProtoNet protein and cluster: O95343

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

    UniProtKB/Swiss-Prot: SIX3_HUMAN, O95343
    Similarity: Belongs to the SIX/Sine oculis homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Function
    for SIX3 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: SIX3_HUMAN, O95343
    Function: May be involved in visual system development

         Genatlas biochemistry entry for SIX3:
    Drosophila sine oculis homolog SIX3,homeo box encoding gene,expressed very early during eye development in midline
    forebrain and in anterior region of the neural plate especially inner retina and later in ganglion cells and in cells
    of the inner nuclear layer,involved in regulation of eye development

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIX3
    8/63 QIAGEN miScript miRNA Assays for microRNAs that regulate SIX3 (see all 63):
    hsa-miR-26a-2* hsa-miR-642a hsa-miR-429 hsa-miR-765 hsa-miR-219-5p hsa-miR-346 hsa-miR-632 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmid: SIX3 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 SIX3 (see all 7)
    OriGene shRNA RFP: SIX3
    OriGene siRNA: SIX3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SIX3

    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 SIX3 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SIX3
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SIX3 (NM_005413)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX3 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SIX3
    Search LifeMap BioReagents cell lines for SIX3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX3

    Gene Ontology (GO): 5 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 ----
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--


    SIX3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Six3tm2.1Gco for SIX3
         9 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Six3):
     craniofacial  digestive/alimentary  embryogenesis  mortality/aging  nervous system 
     respiratory system  skeleton  taste/olfaction  vision/eye 

    SIX3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SIX3 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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription factors in neurogenesis
    		Transcription factors in neurogenesis1.00
    2Transcriptional Regulatory Network in Embryonic Stem Cell
    		Transcriptional Regulatory Network in Embryonic Stem Cell1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SIX3
        Transcription factors in neurogenesis

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SIX3
        Transcriptional Regulatory Network in Embryonic Stem Cell



    SIX3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SIX3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/11 Interacting proteins for SIX3 (O953433 ENSP000002606534) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AESQ081173, ENSP000002215614I2D: score=7 STRING: ENSP00000221561
    EYA1Q995023, ENSP000003426264I2D: score=1 STRING: ENSP00000342626
    MTA1Q133303, ENSP000003336334I2D: score=1 STRING: ENSP00000333633
    NR4A3Q925703, ENSP000003331224I2D: score=3 STRING: ENSP00000333122
    GMNNO754963, ENSP000002300564I2D: score=2 STRING: ENSP00000230056
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development ----
    GO:0006606protein import into nucleus IEA--
    GO:0007420brain development TAS10369266
    GO:0007601visual perception TAS10369266
    GO:0021536diencephalon development IEA--


    SIX3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SIX3 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 SIX3
    Search CenterWatch for drugs/clinical trials and news about SIX3 

    Transcripts
    for SIX3 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 SIX3 gene: 
    NM_005413.3  

    Unigene Cluster for SIX3:

    SIX homeobox 3
    Hs.567336  [show with all ESTs]
    Unigene Representative Sequence: NM_005413
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000260653(uc002run.2)

    miRNA
    Products:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIX3
    8/63 QIAGEN miScript miRNA Assays for microRNAs that regulate SIX3 (see all 63):
    hsa-miR-26a-2* hsa-miR-642a hsa-miR-429 hsa-miR-765 hsa-miR-219-5p hsa-miR-346 hsa-miR-632 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmid: SIX3 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 SIX3 (see all 7)
    OriGene shRNA RFP: SIX3
    OriGene siRNA: SIX3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX3
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SIX3 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SIX3
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SIX3 (NM_005413)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX3 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SIX3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SIX3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIX3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIX3

    Additional cDNA sequence: 

    AJ012611.1 AL162671.1 BC030289.1 

    3 DOTS entries:

    DT.40221108  DT.97838527  DT.97836768 

    24/42 AceView cDNA sequences (see all 42):

    AJ012611 BM699831 BM802245 AW770616 CD675738 CD671545 AI611848 BM666854 
    AW451934 NM_005413 BF445096 BM703765 BF726510 BX352796 BM667610 BM668514 
    BM727605 BM703652 BM710788 CD673489 BM710946 BM716372 CN478472 AL162671 

    GeneLoc Exon Structure


    Expression
    for SIX3 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

    SIX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACGATTTATT

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

    SIX3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeNeuroblastic LayerEarly Retinal Progenitor CellsRetina
    EyeNeuroblastic LayerLate Retinal Progenitor CellsRetina
    Neural EctodermNeural PlateAnterior Neural Ridge CellsNeural Ectoderm
    Neural EctodermNeural PlateZona Limitans Intrathalamica CellsNeural Ectoderm
    Neural TubeMesencephalonNeural Fold CellsNeural Ectoderm
    Neural TubeProsencephalonNeural Fold CellsNeural Ectoderm
    Surface EctodermSurface EctodermPre-placodal Lens Ectoderm CellsEctoderm
    Gut TubeForegutForegut Endoderm CellsEndoderm
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainHypothalamusBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    Retinal progenitor-like cells (Generation of retina...)
    Retinal pigment epithelium-like cells (Generation of retina...)
    Neural rosettes (Generation of photor...)
    Rx-GFP+ cells (Generation of retina...)
    Optic cup (Generation of retina...)
    N2-induced embryoid bodies (Generation of photor...)
    N2/LSB/S/F8-induced cells (Generation of midbra...)
    Definitive endoderm-like cells (A scalable, suspensi...)

    See SIX3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIX3

    SOURCE GeneReport for Unigene cluster: Hs.567336
        SABiosciences Expression via Pathway-Focused PCR Array including SIX3: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SIX3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SIX3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIX3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIX3
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX3

    Orthologs
    for SIX3 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 SIX3 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SIX31 SIX homeobox 3 85.62(n)
    94.25(a)    		   378786  NM_204364.1  NP_989695.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SIX36
    --
    		 --
    		 86(a)
    53(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343284.1(1364383-1371751)
    GL343781.1(178186-183024)
    African clawed frog
    (Xenopus laevis)    		 Amphibia six3-A2 Six3 protein 79.69(n)    AF183571.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii six3a2 sine oculis homeobox homolog 3a 78.71(n)   30635  AF030280.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Optix3 eye morphogenesis (sensu Drosophila)
    transcription more    		 74(a)
    (best of 2)    		   44A3   --
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-323 homeobox protein (so subfamily) 65(a)
    (best of 4)    		   V(11704674-11706097)   --


    ENSEMBL Gene Tree for SIX3 (if available)
    TreeFam Gene Tree for SIX3 (if available) 

    Paralogs
    for SIX3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SIX3 gene
    SIX42  SIX52  SIX22  SIX12  SIX62  
    6 SIMAP similar genes for SIX3 using alignment to 2 protein entries:     SIX3_HUMAN (see all proteins):
    SIX6    SIX2    SIX1    AREC3    SIX5    SIX4

    SIX3 for paralogs           About GeneDecksing



    Genomic Variants
    for SIX3 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

    10/208 NCBI SNPs in SIX3 are shown (see all 208)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219178781,2
    		Cpathogenic44907588(+) GGTACC/GTACAG 2 -- us2k10--------
    rs1219178801,2
    		Cpathogenic44907661(+) ACAAGC/TAGGCA 2 -- us2k10--------
    rs1219178791,2
    		Cpathogenic44907682(+) GAACCC/GGCGGC 2 -- us2k10--------
    rs728741741,2
    		C,--44885748(+) ACCATG/AGCCAC 1 -- ds50012Minor allele frequency- A:0.08WA 120
    rs37389791,2
    		C,--44885961(-) TGCAGG/TGGGAG 1 -- ds50014Minor allele frequency- T:0.16EA NA WA 1738
    rs5037961,2
    		C,F,--44886116(-) CCACAA/GTNNNN 1 -- ds50011Minor allele frequency- G:0.04NA 120
    rs134312011,2
    		C,F,H,--44887054(+) ATAGTC/GCTGGG 1 -- nc-transcript-variant25Minor allele frequency- G:0.07NS EA NA WA 2904
    rs1124750821,2
    		--44887155(+) ATGGCC/TGTGTG 1 -- nc-transcript-variant1Minor allele frequency- T:0.50CSA 2
    rs754955431,2
    		--44887282(+) GTTTTC/TTTTTT 1 -- nc-transcript-variant0--------
    rs727941011,2
    		--44887288(+) TTTTTC/TTTTTT 1 -- nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for SIX3 (45168902 - 45173216 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SIX3: --
    Human Gene Mutation Database (HGMD): SIX3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SIX3
    DNA2.0 Custom Variant and Variant Library Synthesis for SIX3

    Disorders / Diseases
    for SIX3 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
    SIX3 for disorders           About GeneDecksing

    OMIM gene information: 603714   
    OMIM disorders: 157170  
    UniProtKB/Swiss-Prot: SIX3_HUMAN, O95343
  • Defects in SIX3 are the cause of holoprosencephaly type 2 (HPE2) [MIM:157170]. Holoprosencephaly (HPE)
    • [MIM:236100] is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly
    separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several
    distinct facies and phenotypic variability

    20/24 diseases for SIX3 (see all 24):    About MalaCards
    holoprosencephaly    anophthalmia/microphthalmia    holoprosencephaly, recurrent infections, and monocytosis    extraskeletal myxoid chondrosarcoma
    suppression amblyopia    cleft lip/palate    myxoid chondrosarcoma    cleft lip
    anophthalmia    amblyopia    schizencephaly    microphthalmia
    chondrosarcoma    patau syndrome    ectrodactyly    moyamoya disease
    aniridia    hypopituitarism    coloboma    polydactyly

    4 diseases from the University of Copenhagen DISEASES database for SIX3:
    Holoprosencephaly     Microphthalmia     Patau syndrome     Coloboma

    5 Novoseek disease relationships for SIX3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    holoprosencephaly 95.8 23 8824878 (2), 10512683 (1), 15221788 (1), 8575305 (1) (see all 17)
    aprosencephaly 87.4 2 15635066 (1)
    cyclopia 79.9 1 11039582 (1)
    chondrosarcoma 33.2 2 12543801 (1), 15262426 (1)
    tumors 3.69 3 12543801 (2), 15262426 (1)

    GeneTests: SIX3
    Anophthalmia/Microphthalmia
    Holoprosencephaly

    Human Genome Epidemiology (HuGE) Navigator: SIX3 (4 documents)

    Export disorders for SIX3 gene to outside databases

    Publications
    for SIX3 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 SIX3 gene, integrated from 9 sources (see all 86):
    (articles sorted by number of sources associating them with SIX3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene. (PubMed id 9889003)1, 2, 3, 9 Granadino B.... Rodriguez de Cordoba S. (1999)
    2. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. (PubMed id 10369266)1, 2, 3, 9 Wallis D.E....Muenke M. (1999)
    3. Sequence and location of SIX3, a homeobox gene expressed in the human eye. (PubMed id 10415461)1, 2, 9 Leppert G.S.... Sundin O.H. (1999)
    4. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. (PubMed id 15221788)1, 2, 9 Dubourg C.... David V. (2004)
    5. Repression of Six3 by a corepressor regulates rhodopsin expression. (PubMed id 17666527)1, 9 Manavathi B....Kumar R. (2007)
    6. The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas. (PubMed id 12543801)1, 9 Laflamme C....Labelle Y. (2003)
    7. Mutations in the human SIX3 gene in holoprosencephaly are loss of function. (PubMed id 18791198)1, 9 Domene S....Feldman B. (2008)
    8. Regulation of the human SIX3 gene promoter. (PubMed id 11554737)1, 9 Lengler J. and Graw J. (2001)
    9. First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations. (PubMed id 15635066)1, 9 Pasquier L....Encha-Razavi F. (2005)
    10. A novel SIX3 mutation segregates with holoprosencephaly in a large family. (PubMed id 19353631)1, 9 Solomon B.D....Muenke M. (2009)

    External Searches for SIX3 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 SIX3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6496 HGNC: 10889 AceView: SIX3 Ensembl:ENSG00000138083 euGenes: HUgn6496
    ECgene: SIX3 H-InvDB: SIX3

    Other Databases showing SIX3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SIX3 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 SIX3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SIX3

    Intellectual Property
    for SIX3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SIX3 gene:
    Search GeneIP for patents involving SIX3

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



    Products
    for SIX3 gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
     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 Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for SIX3  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SIX3   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SIX3  
     OriGene Protein Over-expression Lysate for SIX3   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for SIX3   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SIX3   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SIX3  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SIX3   OriGene Custom Protein Services for SIX3  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SIX3
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SIX3
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIX3
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX3
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIX3
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIX3
     GenScript Custom Purified and Recombinant Proteins Services for SIX3 GenScript cDNA clones with any tag delivered in your preferred vector for SIX3
     GenScript Custom Assay Services for SIX3 GenScript Custom Superior Antibodies Services for SIX3
     GenScript Custom overexpressing Cell Line Services for SIX3 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 SIX3 promoter
     Search Chromatin IP Primers for SIX3
     RT2 qPCR Primer Assay in human, mouse, rat SIX3
     GNC Network for SIX3
     SABiosciences PCR Arrays including human, mouse, rat SIX3
     Search Tocris compounds for SIX3
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SIX3 antibodies
     Search for Antibodies for SIX3 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SIX3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     SIX3 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for SIX3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX3
     SwitchGear 3'UTR luciferase reporter plasmids for SIX3
     SwitchGear Promoter luciferase reporter plasmids for SIX3
     Search ThermoFisher Antibodies for SIX3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX3
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    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

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      SIX3 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4