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

SIX4 Gene

protein-coding   GIFtS: 57
GCID: GC14M061176

SIX Homeobox 4

(Previous names: sine oculis homeobox (Drosophila) homolog 4, sine oculis...)
  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 41 2
Sine Oculis Homeobox Homolog 42 3
Sine Oculis Homeobox (Drosophila) Homolog 41
Sine Oculis Homeobox Homolog 4 (Drosophila)1
AREC32
Homeobox Protein SIX42

External Ids:    HGNC: 108901   Entrez Gene: 518042   Ensembl: ENSG000001006257   OMIM: 6063425   UniProtKB: Q9UIU63   

Export aliases for SIX4 gene to outside databases

Previous GC identifers: GC14M058506 GC14M054973 GC14M059170 GC14M060249 GC14M041338


(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 SIX4 Gene:
This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein
required for eye development. Studies in mouse show that this gene product functions as a transcription factor,
and may have a role in the differentiation or maturation of neuronal cells. (provided by RefSeq, May 2010)

GeneCards Summary for SIX4 Gene: 
SIX4 (SIX homeobox 4) is a protein-coding gene. Diseases associated with SIX4 include posterior polar cataract, and myocardial stunning. 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 SIX5.

Gene Wiki entry for SIX4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SIX4 gene promoter:
         Egr-3   Lmo2   MyoD   Nkx2-5   AP-2gamma   E47   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSIX4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SIX4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIX4


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

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

SIX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIX4 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M061176:  view genomic region     (about GC identifiers)

Start:
61,176,246 bp from pter      End:
61,191,066 bp from pter
Size:
14,821 bases      Orientation:
minus 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: SIX4_HUMAN, Q9UIU6 (See protein sequence)
Recommended Name: Homeobox protein SIX4  
Size: 781 amino acids; 82933 Da
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=BAA86223.1; Type=Erroneous initiation; Sequence=EAW80786.1; Type=Erroneous initiation;
Secondary accessions: Q4QQH5 Q4V764

Explore the universe of human proteins at neXtProt for SIX4: NX_Q9UIU6

Explore proteomics data for SIX4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UIU6

  • SIX4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SIX4 Protein Expression
    REFSEQ proteins: NP_059116.3  
    ENSEMBL proteins: 
     ENSP00000216513   ENSP00000451537   ENSP00000450761  

    Human Recombinant Protein Products for SIX4: 
    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
    OriGene Purified Protein for SIX4
    OriGene Protein Over-expression Lysate for SIX4
    OriGene MassSpec for SIX4 
    OriGene Custom Protein Services for SIX4
    GenScript Custom Purified and Recombinant Proteins Services for SIX4
    Novus Biologicals SIX4 Protein
    Novus Biologicals SIX4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SIX4 

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

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

    SIX4 for ontologies           About GeneDecksing



    SIX4 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals SIX4 Antibodies
    Abcam antibodies for SIX4
    Cloud-Clone Corp. Antibodies for SIX4 
    Search ThermoFisher Antibodies for SIX4
    LSBio Antibodies in human, mouse, rat for SIX4 

    Assay Products for SIX4: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SIX4
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    Cloud-Clone Corp. ELISAs for SIX4 
    Cloud-Clone Corp. CLIAs for SIX4


    (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

    3 InterPro protein domains:
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9UIU6

    ProtoNet protein and cluster: Q9UIU6

    UniProtKB/Swiss-Prot: SIX4_HUMAN, Q9UIU6
    Similarity: Belongs to the SIX/Sine oculis homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    SIX4 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:
         Genatlas biochemistry entry for SIX4:
    Drosophila sine oculis homolog SIX4 homeo box encoding gene,expressed in mouse in the nucleus of neuronal cells in
    developing brain,spinal cord and various ganglia,not deleted in a adult tissues,also expressed in developing
    mouse retina,putatively involved in differentiation or maturation of neuronal cells and retinal development

         Gene Ontology (GO): 3 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:0043565sequence-specific DNA binding IEA--
         
    SIX4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SIX4:
     Increased gamma-H2AX phosphory 

         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Six4):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  hearing/vestibular/ear  limbs/digits/tail  mortality/aging  muscle 
     nervous system  normal  skeleton  vision/eye 

    SIX4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SIX4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SIX4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SIX4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SIX4 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIX4
    8/112 QIAGEN miScript miRNA Assays for microRNAs that regulate SIX4 (see all 112):
    hsa-miR-124* hsa-miR-548j hsa-miR-193a-3p hsa-miR-15a hsa-miR-30d hsa-miR-30a hsa-miR-629 hsa-miR-155*
    SwitchGear 3'UTR luciferase reporter plasmidSIX4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SIX4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SIX4
    Sirion Biotech Customized adenovirus for overexpression of SIX4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SIX4 (see all 7)
    OriGene ORF clones in mouse, rat for SIX4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SIX4 (NM_017420)
    Sino Biological Human cDNA Clone for SIX4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX4
    Sirion Biotech Customized lentivirus for stable overexpression of SIX4 
                         Customized lentivirus expression plasmids for stable overexpression of SIX4 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SIX4
    Search LifeMap BioReagents cell lines for SIX4
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX4


    (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

    SuperPaths for SIX4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for SIX4):
        Transcriptional misregulation in cancer


    SIX4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SIX4

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

    5 Interacting proteins for SIX4 (Q9UIU62, 3 ENSP000002165134) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KDM6AO155502, 3, ENSP000003672034MINT-7949384 I2D: score=2 STRING: ENSP00000367203
    EYA2O001673, ENSP000003336404I2D: score=2 STRING: ENSP00000333640
    EYA3Q995043, ENSP000003629784I2D: score=1 STRING: ENSP00000362978
    KBTBD7Q8WVZ93I2D: score=1 
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007519skeletal muscle tissue development IEA--
    GO:0008582regulation of synaptic growth at neuromuscular junction IEA--
    GO:0009653anatomical structure morphogenesis TAS10640827
    GO:0010468regulation of gene expression ----

    SIX4 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 SIX4

    Search CenterWatch for drugs/clinical trials and news about SIX4

    (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 SIX4 gene: 
    NM_017420.4  

    Unigene Cluster for SIX4:

    SIX homeobox 4
    Hs.97849  [show with all ESTs]
    Unigene Representative Sequence: NM_017420
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216513(uc001xfc.3) ENST00000554079 ENST00000556952(uc010app.1)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIX4
    8/112 QIAGEN miScript miRNA Assays for microRNAs that regulate SIX4 (see all 112):
    hsa-miR-124* hsa-miR-548j hsa-miR-193a-3p hsa-miR-15a hsa-miR-30d hsa-miR-30a hsa-miR-629 hsa-miR-155*
    SwitchGear 3'UTR luciferase reporter plasmidSIX4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SIX4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX4
    Clone
    Products:
         
    OriGene clones in human, mouse for SIX4 (see all 7)
    OriGene ORF clones in mouse, rat for SIX4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SIX4 (NM_017420)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX4
    Sirion Biotech Customized lentivirus for stable overexpression of SIX4 
                         Customized lentivirus expression plasmids for stable overexpression of SIX4 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SIX4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SIX4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIX4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIX4

    Additional mRNA sequence: 

    AF032107.1 AK309358.1 BC098135.1 BC098282.1 BC099722.1 BC101934.1 

    1 DOTS entry:

    DT.40301139 

    6 AceView cDNA sequences:

    NM_017420 BG977380 AA375786 BP365126 AF032107 BF678614 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SIX4    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5
    SP1:        -     -                     
    SP2:                                    


    ECgene alternative splicing isoforms for SIX4

    (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

    SIX4 expression in normal human tissues (normalized intensities)      SIX4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SIX4 Expression
    About this image


    SIX4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 46 entries
             Myoblasts Thoracic Primary Hypaxial Myotome
     
     Somite (Muscoskeletal System)    fully expand to see all 37 entries
             Myoblasts Thoracic Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 9 entries
             Mononuclear Myocytes Hindlimb Dorsal Muscle
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 4D20.8, NCr-fac Progenitor
     
     Cartilage (Muscoskeletal System)
             Human Annulus Fibrosus Cells (HAFC)   

    See SIX4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIX4

    SOURCE GeneReport for Unigene cluster: Hs.97849
        SABiosciences Expression via Pathway-Focused PCR Array including SIX4: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SIX4
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIX4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX4

    (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 SIX4 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Six41 , 5 sine oculis-related homeobox 4 homolog (Drosophila)5
    sine oculis-related homeobox 41
    90.09(n)1
    91.21(a)1
      12 (30.36 cM)5
    204741  NM_011382.21  NP_035512.11 
     730996095 
    chicken
    (Gallus gallus)
    Aves SIX41 SIX homeobox 4 78.94(n)
    80.39(a)
      395601  XM_003641442.1  XP_003641490.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIX46
    Uncharacterized protein
    64(a)
    1 ↔ 1
    GL343261.1(729273-761613)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.73842 Xenopus laevis transcribed sequence with weak similarity more 75.32(n)    48041179 
    zebrafish
    (Danio rerio)
    Actinopterygii AB040709.12   -- 82.06(n)   65232  AB040709.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Six43 gonad development RNA polymerase II
    transcription more
    65(a)   77E6   --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-333   -- 53(a)
    (best of 3)
      V(5322702-5324303)   --


    ENSEMBL Gene Tree for SIX4 (if available)
    TreeFam Gene Tree for SIX4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SIX4 gene
    SIX52  SIX22  SIX12  SIX32  SIX62  
    8 SIMAP similar genes for SIX4 using alignment to 3 protein entries:     SIX4_HUMAN (see all proteins):
    AREC3    SIX1    SIX6    SIX2    SIX5    SIX3
    NKX2-5    WUGSC

    SIX4 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

    10/344 SNPs in SIX4 are shown (see all 344)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364434
    A breast cancer sample4--see VAR_0364432 D E mis40--------
    VAR_0364414
    A breast cancer sample4--see VAR_0364412 E Q mis40--------
    VAR_0364424
    A breast cancer sample4--see VAR_0364422 G D mis40--------
    rs776012791,2
    F--42160485(+) GGAAGG/AGGAAG 1 -- ds50011Minor allele frequency- A:0.07WA 118
    rs1113880921,2
    C,F--42160496(+) GTACAC/ATTCTT 1 -- ds50012Minor allele frequency- A:0.04NA 122
    rs1827989351,2
    --42160780(+) GGTATA/GTATAA 1 -- ut310--------
    rs1501339241,2
    --42160859(+) CTTAAC/TTGTCC 1 -- ut310--------
    rs101337771,2
    C,F,H--42160979(+) GCAGTA/GAAGAC 1 -- ut31 ese35Minor allele frequency- G:0.01NS EA CSA 422
    rs21808301,2
    C,F,O,A,H--42161005(-) TGTATG/ATCATG 1 -- ut31 ese326Minor allele frequency- A:0.21NS EA NA WA CSA 2496
    rs1383360871,2
    C--42161019(+) TGTAT-/AGAGTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SIX4 (61176246 - 61191066 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SIX4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv902001CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SIX4
    DNA2.0 Custom Variant and Variant Library Synthesis for SIX4

    (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: 606342    OMIM disorders: --

    6 diseases for SIX4:    About MalaCards
    posterior polar cataract    myocardial stunning    cataract    neuronitis
    myocardial infarction    retinitis

    1 disease from the University of Copenhagen DISEASES database for SIX4:
    Myocardial infarction

    SIX4 for disorders           About GeneDecksing


    Export disorders for SIX4 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 SIX4 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with SIX4)
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    1. Structure and chromosome mapping of the human SIX4 and murine Six4 genes. (PubMed id 10640827)1, 2, 3 Ozaki H.... Kawakami K. (1999)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. 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, 3 Gallardo M.E....Rodriguez de Cordoba S. (1999)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    6. Comparative proteomic analysis identifies a role for S UMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (2011)
    7. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)
    8. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)2 Matsuoka S.... Elledge S.J. (2007)
    9. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    10. Six3 and Six6 activity is modulated by members of the groucho family. (PubMed id 12441302)1 Lopez-Rios J....Bovolenta P. (2003)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51804 HGNC: 10890 AceView: SIX4 Ensembl:ENSG00000100625 euGenes: HUgn51804
    ECgene: SIX4 Kegg: 51804 H-InvDB: SIX4

    (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 SIX4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SIX4 gene:
    Search GeneIP for patents involving SIX4

    GeneCards and IP:
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