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SIX3 Gene

protein-coding   GIFtS: 56
GCID: GC02P045168

SIX Homeobox 3

(Previous names: holoprosencephaly 2, alobar or semilobar, sine oculis homeobox...)
(Previous symbol: HPE2)
  See SIX3-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)
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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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SIX3 Gene:
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)

GeneCards Summary for SIX3 Gene:
SIX3 (SIX homeobox 3) is a protein-coding gene. Diseases associated with SIX3 include six3-related holoprosencephaly, and holoprosencephaly-2. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is SIX4.

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

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   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 plasmidSIX3 promoter sequence
   Search Chromatin IP Primers for SIX3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SIX3_HUMAN, O95343 (See protein sequence)
Recommended Name: Homeobox protein SIX3  
Size: 332 amino acids; 35487 Da
Secondary accessions: D6W5A5 Q53T42

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

Explore proteomics data for SIX3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SIX3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005404.1  
    ENSEMBL proteins: 
     ENSP00000260653  

    SIX3 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SIX3

     
    Search eBioscience for Proteins for SIX3 

     
    antibodies-online proteins for SIX3 (4 products) 

     
    antibodies-online peptides for SIX3

    SIX3 Antibody Products:

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    Search for Antibodies for SIX3 at Abcam
    Cloud-Clone Corp. Antibodies for SIX3
    Search ThermoFisher Antibodies for SIX3
    antibodies-online antibodies for SIX3 (39 products) 

    SIX3 Assay Products:

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    Cloud-Clone Corp. ELISAs for SIX3
    Cloud-Clone Corp. CLIAs for SIX3
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    antibodies-online kits for SIX3 (6 products) 


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

    2 InterPro protein domains:
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry O95343

    ProtoNet protein and cluster: O95343

    1 Blocks protein domain: 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


    Find genes that share domains with SIX3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    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--
         
    Find genes that share ontologies with SIX3           About GenesLikeMe


    Phenotypes:
         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 

    Find genes that share phenotypes with SIX3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Six3tm2.1Gco for SIX3

       genOway: Develop your customized and physiologically relevant rodent model for SIX3

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SIX3 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSIX3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SIX3
    Predesigned siRNA for gene silencing in human, mouse, rat SIX3

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

    Clone
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    OriGene clones in human, mouse for SIX3 (see all 6)
    OriGene ORF clones in 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
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    GenScript Custom overexpressing Cell Line Services for SIX3
    Browse ESI BIO Cell Lines and PureStem Progenitors for SIX3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SIX3_HUMAN, O95343: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with SIX3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SIX3 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell
    2Transcription factors in neurogenesis
    Transcription factors in neurogenesis

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


        Pathway & Disease-focused RT2 Profiler PCR Array including SIX3: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SIX3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for SIX3 (O953433 ENSP000002606534) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    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): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006606protein import into nucleus IEA--
    GO:0007420brain development TAS10369266
    GO:0007601visual perception TAS10369266

    Find genes that share ontologies with SIX3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SIX3



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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:
         
    Block miRNA regulation of human, mouse, rat SIX3 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSIX3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SIX3
    Predesigned siRNA for gene silencing in human, mouse, rat SIX3
    Clone
    Products:
         
    OriGene clones in human, mouse for SIX3 (see all 6)
    OriGene ORF clones in 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 qPCR primer pairs and template standards for SIX3
    OriGene qSTAR qPCR primer pairs in human, mouse for SIX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SIX3
      QuantiTect SYBR Green Assays in human, mouse, rat SIX3
      QuantiFast Probe-based Assays in human, mouse, rat SIX3

    Additional mRNA sequence: 

    AJ012611.1 AL162671.1 BC030289.1 

    3 DOTS entries:

    DT.40221108  DT.97838527  DT.97836768 

    Selected AceView cDNA sequences (see all 42):

    AJ012611 CD675738 BM802245 AI611848 CD671545 AW451934 BM666854 AW770616 
    BM699831 BQ639425 BV196574 CN478472 BM724914 BM710946 CD673489 BF445096 
    BM727605 AL162671 CD671546 BX352796 BM703652 NM_005413 BM667610 BM716372 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SIX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACGATTTATT
    SIX3 Expression
    About this image


    SIX3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 11 entries
             Early Retinal Progenitor Cells Retinal Neuroblastic Layer
             Retinal Pigmented Epithelium
             Rx-GFP+ cells
     
     Neural Tube (Nervous System)    fully expand to see all 10 entries
             Neural Fold Cells Prosencephalon
             Telencephalon
             Neural rosettes
     
     Neural Ectoderm (Nervous System)    fully expand to see all 6 entries
             Intraembryonic Neural Ectoderm Cells Neural Plate
             N2-induced embryoid bodies
     
     NULL (Sensory Organs)    fully expand to see all 2 entries
             Retinal pigment epithelium-like cells
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Thalamus
             N2/LSB/S/F8-induced cells
    SIX3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SIX3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567336
        Pathway & Disease-focused RT2 Profiler PCR Array including SIX3: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX3

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SIX3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Six31 , 5 sine oculis-related homeobox 3 homolog (Drosophila)5
    sine oculis-related homeobox 31
    94.28(n)1
    95.78(a)1
      17 (55.42 cM)5
    204731  NM_011381.41  NP_035511.21 
     856208345 
    chicken
    (Gallus gallus)
    Aves SIX31 SIX homeobox 3 85.2(n)
    93.61(a)
      378786  NM_204364.1  NP_989695.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIX36
    SIX homeobox 3
    88(a)
    1 ↔ 1
    GL343284.1(1362242-1372712)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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

    Find genes that share paralogs with SIX3           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SIX3 (see all 93)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0037714
    Holoprosencephaly 2 (HPE2)4--see VAR_0037712 L V mis40--------
    VAR_0238004
    Holoprosencephaly 2 (HPE2)4--see VAR_0238002 T I mis40--------
    VAR_0037724
    Holoprosencephaly 2 (HPE2)4--see VAR_0037722 V A mis40--------
    VAR_0238014
    Holoprosencephaly 2 (HPE2)4--see VAR_0238012 P R mis40--------
    VAR_0238024
    Holoprosencephaly 2 (HPE2)4--see VAR_0238022 R W mis40--------
    VAR_0237974
    Holoprosencephaly 2 (HPE2)4--see VAR_0237972 V G mis40--------
    VAR_0037734
    Holoprosencephaly 2 (HPE2)4--see VAR_0037732 R P mis40--------
    VAR_0237984
    Holoprosencephaly 2 (HPE2)4--see VAR_0237982 I V mis40--------
    VAR_0384184
    Holoprosencephaly 2 (HPE2)4--see VAR_0384182 G D mis40--------
    VAR_0237994
    Holoprosencephaly 2 (HPE2)4--see VAR_0237992 H P mis40--------

    HapMap Linkage Disequilibrium report for SIX3 (45168902 - 45173216 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SIX3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv457207CNV Loss19166990
    nsv526534CNV Loss19592680
    nsv873990CNV Loss21882294

    Human Gene Mutation Database (HGMD): SIX3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SIX3
    DNA2.0 Custom Variant and Variant Library Synthesis for SIX3

    (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.)
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    OMIM gene information: 603714   
    OMIM disorders: 157170  269160  
    UniProtKB/Swiss-Prot: SIX3_HUMAN, O95343
  • Holoprosencephaly 2 (HPE2) [MIM:157170]: A 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 18 diseases for SIX3:    
    About MalaCards
    six3-related holoprosencephaly    holoprosencephaly-2    holoprosencephaly, recurrent infections, and monocytosis    holoprosencephaly
    familial schizencephaly, six3-related    schizencephaly    patau syndrome    semilobar holoprosencephaly
    single median maxillary central incisor    myxoid chondrosarcoma    septopreoptic holoprosencephaly    midline interhemispheric variant of holoprosencephaly
    extraskeletal myxoid chondrosarcoma    lobar holoprosencephaly    anophthalmia/microphthalmia    alobar holoprosencephaly
    moyamoya disease    chondrosarcoma

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

    Find genes that share disorders with SIX3           About GenesLikeMe

    5 Novoseek inferred 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
    GeneReviews: SIX3
    Genetic Association Database (GAD): SIX3
    Human Genome Epidemiology (HuGE) Navigator: SIX3 (4 documents)

    Export disorders for SIX3 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)
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    PubMed articles for SIX3 gene, integrated from 10 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. (Genomics 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. (Nat. Genet. 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. (Ophthalmic Genet. 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. (Hum. Mutat. 2004)
    5. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1, 4, 9 Zhang X....Zhang Q. (Mol. Vis. 2009)
    6. Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence. (PubMed id 22488850)1, 4 Zuo L....Luo X. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2012)
    7. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (PubMed id 21909109)1, 4 Kim Y.J....Cho Y.S. (Nat. Genet. 2011)
    8. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    9. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    10. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. (PubMed id 19346217)1, 4 Lacbawan F....Muenke M. (J. Med. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6496 HGNC: 10889 AceView: SIX3 Ensembl:ENSG00000138083 euGenes: HUgn6496
    ECgene: SIX3 H-InvDB: SIX3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SIX3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SIX3[genesymbol]

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



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