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

SIX2 Gene

protein-coding   GIFtS: 52
GCID: GC02M045232

SIX Homeobox 2

(Previous names: sine oculis homeobox (Drosophila) homolog 2, 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 21 2
Sine Oculis Homeobox Homolog 22 3
Sine Oculis Homeobox (Drosophila) Homolog 21
Sine Oculis Homeobox Homolog 2 (Drosophila)1
Homeobox Protein SIX22

External Ids:    HGNC: 108881   Entrez Gene: 107362   Ensembl: ENSG000001705777   OMIM: 6049945   UniProtKB: Q9NPC83   

Export aliases for SIX2 gene to outside databases

Previous GC identifers: GC02M045231 GC02M045401 GC02M045206 GC02M045143 GC02M044969


(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 SIX2 Gene:
This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine
oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene
family, may be involved in limb or eye development. (provided by RefSeq, Dec 2008)

GeneCards Summary for SIX2 Gene: 
SIX2 (SIX homeobox 2) is a protein-coding gene. Diseases associated with SIX2 include microtia, and esophageal atresia. GO annotations related to this gene include protein complex binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SIX4.

UniProtKB/Swiss-Prot: SIX2_HUMAN, Q9NPC8
Function: May be involved in limb tendon and ligament development (By similarity)

Gene Wiki entry for SIX2 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_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SIX2 gene promoter:
         NF-1   NF-1/L   Nkx2-5   CUTL1   STAT5A   Tal-1beta   N-Myc   IRF-7A   NF-kappaB1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSIX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SIX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIX2


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

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

SIX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIX2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M045232:  view genomic region     (about GC identifiers)

Start:
45,232,300 bp from pter      End:
45,236,569 bp from pter
Size:
4,270 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: SIX2_HUMAN, Q9NPC8 (See protein sequence)
Recommended Name: Homeobox protein SIX2  
Size: 291 amino acids; 32286 Da
Subcellular location: Nucleus
Secondary accessions: Q9BXH7

Explore the universe of human proteins at neXtProt for SIX2: NX_Q9NPC8

Explore proteomics data for SIX2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NPC8

  • SIX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SIX2 Protein Expression
    REFSEQ proteins: NP_058628.3  
    ENSEMBL proteins: 
     ENSP00000304502  

    Human Recombinant Protein Products for SIX2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene MassSpec for SIX2 
    OriGene Custom Protein Services for SIX2
    GenScript Custom Purified and Recombinant Proteins Services for SIX2
    Novus Biologicals SIX2 Protein
    Novus Biologicals SIX2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SIX2 

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

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

    SIX2 for ontologies           About GeneDecksing



    SIX2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for SIX2 
    Cloud-Clone Corp. CLIAs for SIX2


    (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 Q9NPC8

    ProtoNet protein and cluster: Q9NPC8

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

    UniProtKB/Swiss-Prot: SIX2_HUMAN, Q9NPC8
    Similarity: Belongs to the SIX/Sine oculis homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    SIX2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SIX2_HUMAN, Q9NPC8
    Function: May be involved in limb tendon and ligament development (By similarity)

         Genatlas biochemistry entry for SIX2:
    Drosophila sine oculis homolog SIX2 homeo box encoding gene,expressed in mesenchyme in mouse

         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 IEA--
    GO:0005515protein binding ----
    GO:0032403protein complex binding IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    SIX2 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Six2):
     cardiovascular system  mortality/aging  normal  renal/urinary system 

    SIX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Six2tm1Gco for SIX2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SIX2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SIX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SIX2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SIX2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIX2
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate SIX2 (see all 25):
    hsa-miR-320a hsa-miR-623 hsa-miR-3938 hsa-miR-181c hsa-miR-4263 hsa-miR-340 hsa-miR-1184 hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidSIX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SIX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX2

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of SIX2

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SIX2 (see all 7)
    OriGene ORF clones in mouse, rat for SIX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SIX2 (NM_016932)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX2
    Sirion Biotech Customized lentivirus for stable overexpression of SIX2 
                         Customized lentivirus expression plasmids for stable overexpression of SIX2 

    Cell Line
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    Search LifeMap BioReagents cell lines for SIX2
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SIX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for SIX2 (Q9NPC83 ENSP000003045024) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EYA1Q995023, ENSP000003426264I2D: score=2 STRING: ENSP00000342626
    AESQ081173, ENSP000002215614I2D: score=1 STRING: ENSP00000221561
    EYA3Q995043, ENSP000003629784I2D: score=1 STRING: ENSP00000362978
    TLE1Q047243, ENSP000003656824I2D: score=2 STRING: ENSP00000365682
    DACH1ENSP000003527124STRING: ENSP00000352712
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001656metanephros development ----
    GO:0001822kidney development IMP18305125
    GO:0002062chondrocyte differentiation IEA--
    GO:0003337mesenchymal to epithelial transition involved in metanephros morphogenesis IEA--
    GO:0006355regulation of transcription, DNA-dependent ----

    SIX2 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 SIX2

    Search CenterWatch for drugs/clinical trials and news about SIX2

    (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 SIX2 gene: 
    NM_016932.4  

    Unigene Cluster for SIX2:

    SIX homeobox 2
    Hs.101937  [show with all ESTs]
    Unigene Representative Sequence: NM_016932
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000303077(uc002ruo.3)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIX2
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate SIX2 (see all 25):
    hsa-miR-320a hsa-miR-623 hsa-miR-3938 hsa-miR-181c hsa-miR-4263 hsa-miR-340 hsa-miR-1184 hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidSIX2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SIX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX2
    Clone
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    GenScript: all cDNA clones in your preferred vector: SIX2 (NM_016932)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX2
    Sirion Biotech Customized lentivirus for stable overexpression of SIX2 
                         Customized lentivirus expression plasmids for stable overexpression of SIX2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SIX2
    OriGene qSTAR qPCR primer pairs in human, mouse for SIX2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SIX2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIX2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIX2

    Additional mRNA sequence: 

    AF136940.1 AF332196.1 AF332197.1 BC024033.2 BT020100.1 

    2 DOTS entries:

    DT.92417765  DT.92417764 

    24/35 AceView cDNA sequences (see all 35):

    AI630789 AF136940 BC024033 BX280822 AA808542 AF332196 BQ071675 BG829041 
    CR595397 AI697804 AF332197 AI697859 NM_016932 AW078611 BM017907 BQ944758 
    BX341976 BU543706 BX400894 BX347429 CA413774 BM999458 AI811914 CF619326 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SIX2 expression in normal human tissues (normalized intensities)      SIX2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAATGTTCT
    SIX2 Expression
    About this image


    SIX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Kidney (Urinary System)    fully expand to see all 7 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephric Mesenchyme
             Human kidney epithelial cell spheroids
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Retina
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             spinal/ganglion/dorsal root ganglion   

    See SIX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIX2

    SOURCE GeneReport for Unigene cluster: Hs.101937

    UniProtKB/Swiss-Prot: SIX2_HUMAN, Q9NPC8
    Tissue specificity: Strongly expressed in skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Arrays including SIX2: 
              Stem Cell Transcription Factors in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX2

    (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 SIX2 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 Six21 , 5 sine oculis-related homeobox 2 homolog (Drosophila)5
    sine oculis-related homeobox 21
    93.24(n)1
    98.97(a)1
      17 (55.72 cM)5
    204721  NM_011380.21  NP_035510.11 
     856842685 
    chicken
    (Gallus gallus)
    Aves SIX21 SIX homeobox 2 86.03(n)
    92.96(a)
      724086  NM_001044695.1  NP_001038160.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIX26
    Uncharacterized protein
    92(a)
    1 ↔ 1
    GL343284.1(1226958-1247234)
    African clawed frog
    (Xenopus laevis)
    Amphibia six2-A2 homeobox protein SIX2 85.27(n)    AF108810.2 
    zebrafish
    (Danio rerio)
    Actinopterygii AB040708.12   -- 76.75(n)   83415  AB040708.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta so1 , 3 circadian rhythm transcription factor3
    sine oculis1
    86(a)
    (best of 2)3
    73.3(n)1
    81.09(a)1
      2 43C13
    356621  NM_057385.41  NP_476733.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-331 , 3 Protein CEH-331 59(a)
    (best of 3)3
    54.7(n)1
    60.77(a)1
      V(5322702-5324303)3
    1916221  NM_072019.11  NP_504420.11 


    ENSEMBL Gene Tree for SIX2 (if available)
    TreeFam Gene Tree for SIX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SIX2 gene
    SIX42  SIX52  SIX12  SIX32  SIX62  
    6 SIMAP similar genes for SIX2 using alignment to 2 protein entries:     SIX2_HUMAN (see all proteins):
    SIX1    AREC3    SIX3    SIX6    SIX4    SIX5

    SIX2 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

    10/158 SNPs in SIX2 are shown (see all 158)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1413683441,2
    --45099026(+) GCTTAA/CGTCTG 1 -- int10--------
    rs1161387261,2
    C,F--45099359(+) CACCTA/GGCGAC 1 -- int11Minor allele frequency- G:0.01NA 120
    rs1469870691,2
    --45099376(+) AAGTCA/GTGTGT 1 -- int10--------
    rs1379807021,2
    --45099392(+) AAGGCA/GTCTGG 1 -- int10--------
    rs1435258531,2
    C--45099437(+) AGAACA/GGCCCA 1 -- int10--------
    rs800965841,2
    C,F--45099449(+) CCGGGG/ATGTCG 1 -- int12Minor allele frequency- A:0.05WA EA 238
    rs1908464241,2
    --45099600(+) ATTACA/GGGGAG 1 -- ut310--------
    rs779565191,2
    C--45099717(+) GGGGCC/GTATGA 1 -- ut310--------
    rs802898741,2
    C,F--45099750(+) TGTGGC/TGCTGC 1 -- ut311Minor allele frequency- T:0.05EA 120
    rs1823256071,2
    --45099862(+) AAAGTC/TCCTGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SIX2 (45232300 - 45236569 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SIX2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2711CNV Loss18451855


    Human Gene Mutation Database (HGMD): SIX2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SIX2
    DNA2.0 Custom Variant and Variant Library Synthesis for SIX2

    (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: 604994    OMIM disorders: --

    5 diseases for SIX2:    About MalaCards
    microtia    esophageal atresia    renal agenesis    wilms tumor
    esophagitis


    SIX2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SIX2

    Export disorders for SIX2 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 SIX2 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with SIX2)
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    1. Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2. (PubMed id 10773454)1, 2, 9 Boucher C.A.... Bailey M.E.S. (2000)
    2. Familial syndromic esophageal atresia maps to 2p23-p24. (PubMed id 10677303)1, 2 Celli J....Brunner H.G. (2000)
    3. SIX2 and CITED1, markers of nephronic progenitor self- renewal, remain active in primitive elements of Wilms' tumor. (PubMed id 22703800)1 Murphy A.J....Lovvorn H.N. (2012)
    4. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    5. Large-scale genome-wide association studies in East As ians identify new genetic loci influencing metabolic traits. (PubMed id 21909109)1 Kim Y.J....Cho Y.S. (2011)
    6. Mutational analysis of HOXA2 and SIX2 in a Bronx popu lation with isolated microtia. (PubMed id 20542577)1 Monks D.C....Babcock M. (2010)
    7. The six family of homeobox genes in development and cancer. (PubMed id 19055944)1 Christensen K.L....Ford H.L. (2008)
    8. The sine oculis homeobox (SIX) family of transcription factors as regulators of development and disease. (PubMed id 18989625)1 Kumar J.P. (2008)
    9. SIX2 and BMP4 mutations associate with anomalous kidney development. (PubMed id 18305125)1 Weber S.... Burdine R.D. (2008)
    10. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10736 HGNC: 10888 AceView: SIX2 Ensembl:ENSG00000170577 euGenes: HUgn10736
    ECgene: SIX2 H-InvDB: SIX2

    (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 SIX2 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 SIX2 gene:
    Search GeneIP for patents involving SIX2

    GeneCards and IP:
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