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DLX3 Gene

protein-coding   GIFtS: 55
GCID: GC17M048067

Distal-Less Homeobox 3

(Previous name: distal-less homeo box 3)
  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)
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Aliases
Distal-Less Homeobox 31 2
AI42 5
TDO2 5
Distal-Less Homeo Box 31
Homeobox Protein DLX-32

External Ids:    HGNC: 29161   Entrez Gene: 17472   Ensembl: ENSG000000641957   OMIM: 6005255   UniProtKB: O604793   

Export aliases for DLX3 gene to outside databases

Previous GC identifers: GC17M047778 GC17M050547 GC17M048409 GC17M048543 GC17M048542 GC17M045423 GC17M043432


(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 DLX3 Gene:
Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with
Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of
Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx)
family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an
autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail
configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene
have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis
imperfecta with taurodontism. (provided by RefSeq, Jul 2008)

GeneCards Summary for DLX3 Gene:
DLX3 (distal-less homeobox 3) is a protein-coding gene. Diseases associated with DLX3 include dental enamel hypoplasia, and amelogenesis imperfecta, type iv. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DLX2.

UniProtKB/Swiss-Prot: DLX3_HUMAN, O60479
Function: Likely to play a regulatory role in the development of the ventral forebrain. May play a role in
craniofacial patterning and morphogenesis

Gene Wiki entry for DLX3 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:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the DLX3 gene promoter:
         RFX1   Lmo2   MyoD   YY1   RORalpha2   C/EBPalpha   AREB6   COMP1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDLX3 promoter sequence
   Search Chromatin IP Primers for DLX3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DLX3


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

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q21.33

DLX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLX3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M048067:  view genomic region     (about GC identifiers)

Start:
48,067,369 bp from pter      End:
48,072,588 bp from pter
Size:
5,220 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DLX3_HUMAN, O60479 (See protein sequence)
Recommended Name: Homeobox protein DLX-3  
Size: 287 amino acids; 31738 Da
Secondary accessions: B3KQL6

Explore the universe of human proteins at neXtProt for DLX3: NX_O60479

Explore proteomics data for DLX3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DLX3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005211.1  
    ENSEMBL proteins: 
     ENSP00000389870   ENSP00000449976  

    DLX3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for DLX3
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    Novus Biologicals DLX3 Proteins
    Novus Biologicals DLX3 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for DLX3

    DLX3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DLX3
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    Novus Biologicals DLX3 Antibodies
    Abcam antibodies for DLX3
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    ThermoFisher Antibodies for DLX3
    LSBio Antibodies in human, mouse, rat for DLX3

    DLX3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for DLX3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DLX3
    Cloud-Clone Corp. CLIAs for DLX3


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

    Selected InterPro protein domains (see all 6):
     IPR020479 Homeobox_metazoa
     IPR000047 HTH_motif
     IPR022135 Distal-less_N
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom

    Graphical View of Domain Structure for InterPro Entry O60479

    ProtoNet protein and cluster: O60479

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

    UniProtKB/Swiss-Prot: DLX3_HUMAN, O60479
    Similarity: Belongs to the distal-less homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    DLX3 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DLX3_HUMAN, O60479
    Function: Likely to play a regulatory role in the development of the ventral forebrain. May play a role in
    craniofacial patterning and morphogenesis

         Genatlas biochemistry entry for DLX3:
    Drosophila distal less homolog Dlx3,homeo domain encoding gene

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9467018
         
    DLX3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DLX3:
     Increased G1 DNA content 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dlx3):
     cardiovascular system  embryogenesis  endocrine/exocrine gland  growth/size/body  integument 
     mortality/aging 

    DLX3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dlx3tm1Mso for DLX3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DLX3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DLX3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DLX3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DLX3

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat DLX3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DLX3 (see all 32):
    hsa-miR-142-5p hsa-miR-1321 hsa-miR-4254 hsa-miR-765 hsa-miR-938 hsa-miR-431 hsa-miR-410 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidDLX3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DLX3
    Predesigned siRNA for gene silencing in human, mouse, rat DLX3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DLX3

    Clone
    Products:
         
    OriGene clones in human, mouse for DLX3 (see all 8)
    OriGene ORF clones in mouse, rat for DLX3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DLX3 (NM_005220)
    Sino Biological Human cDNA Clone for DLX3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLX3

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for DLX3
    Browse ESI BIO Cell Lines and PureStem Progenitors for DLX3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLX3


    (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
    DLX3_HUMAN, O60479: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol1
    extracellular1

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

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

    DLX3 for ontologies           About GeneDecksing


    (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 DLX3 About    
    See pathways by source

    SuperPathContained pathways About
    1Selected targets of C EBPbeta
    Selected targets of C EBPbeta




        Pathway & Disease-focused RT2 Profiler PCR Array including DLX3: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DLX3

    2 Interacting proteins for DLX3 (O604793) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MSX1P283603I2D: score=1 
    PRKCAP172523I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0001890placenta development IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0042475odontogenesis of dentin-containing tooth IEA--
    GO:0071895odontoblast differentiation IEA--

    DLX3 for ontologies           About GeneDecksing



    (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 DLX3



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DLX3 gene: 
    NM_005220.2  

    Unigene Cluster for DLX3:

    Distal-less homeobox 3
    Hs.134194  [show with all ESTs]
    Unigene Representative Sequence: NM_005220
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434704(uc002ipy.3) ENST00000512495
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DLX3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DLX3 (see all 32):
    hsa-miR-142-5p hsa-miR-1321 hsa-miR-4254 hsa-miR-765 hsa-miR-938 hsa-miR-431 hsa-miR-410 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidDLX3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DLX3
    Predesigned siRNA for gene silencing in human, mouse, rat DLX3
    Clone
    Products:
         
    OriGene clones in human, mouse for DLX3 (see all 8)
    OriGene ORF clones in mouse, rat for DLX3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DLX3 (NM_005220)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLX3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DLX3
    OriGene qSTAR qPCR primer pairs in human, mouse for DLX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DLX3
      QuantiTect SYBR Green Assays in human, mouse, rat DLX3
      QuantiFast Probe-based Assays in human, mouse, rat DLX3

    Additional mRNA sequence: 

    AK075167.1 AK313257.1 BC012361.1 BC028970.1 

    2 DOTS entries:

    DT.40263967  DT.97820872 

    Selected AceView cDNA sequences (see all 47):

    NM_005220 CB991969 BI092811 BV197602 CB996798 BG473661 BQ222038 BC028970 
    BE536615 AI250925 AK075167 AI633552 BI057223 AU280795 BM982262 AI184282 
    AA604314 AI126187 CB990401 BQ023925 BC012361 BM017839 AI769274 AI079974 

    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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    DLX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCTCCTGG
    DLX3 Expression
    About this image


    DLX3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 14 entries
             Hypertrophic Chondrocytes Stylopod Growth Plate
             Rib
     
     Tooth
             Odontoblasts Dentin
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Hypertrophic Chondrocytes Stylopod Growth Plate
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 3 entries
             Cranial Neural Crest Cells Branchial Arch 1
    DLX3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DLX3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.134194
        Pathway & Disease-focused RT2 Profiler PCR Array including DLX3: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for DLX3
    OriGene qSTAR qPCR primer pairs in human, mouse for DLX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DLX3
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    QuantiFast Probe-based Assays in human, mouse, rat DLX3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLX3

    (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 DLX3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dlx31 , 5 distal-less homeobox 31, 5 91.17(n)1
    97.91(a)1
      11 (59.01 cM)5
    133931  NM_010055.31  NP_034185.11 
     951200895 
    chicken
    (Gallus gallus)
    Aves DLX31 distal-less homeobox 3 78.54(n)
    79.86(a)
      395590  NM_204804.1  NP_990135.1 
    lizard
    (Anolis carolinensis)
    Reptilia DLX36
    distal-less homeobox 3
    77(a)
    1 ↔ 1
    6(77129981-77147856)
    African clawed frog
    (Xenopus laevis)
    Amphibia dlx3-A-prov2 distal-less homeo box 3, putative transcription factor more 80.6(n)    L09730.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dlx3b2 distal-less homeobox gene 3b 76.09(n)   30585  NM_131322.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dll6
    Distal-less
    27(a)
    1 → many
    2R(20702353-20722686)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-436
    Protein CEH-43 (ceh-43) mRNA, complete cds
    29(a)
    1 → many
    III(4446635-4449943) WBGene00000463


    ENSEMBL Gene Tree for DLX3 (if available)
    TreeFam Gene Tree for DLX3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DLX3 gene
    DLX22  BARX12  GBX12  NKX1-12  VENTX2  GBX22  BARHL12  BARHL22  
    MNX12  BARX22  DLX12  LBX22  NKX1-22  BSX2  DLX52  DLX62  
    DLX42  LBX12  MSX22  MSX12  
    13 SIMAP similar genes for DLX3 using alignment to 2 protein entries:     DLX3_HUMAN (see all proteins):
    HMX2    DLX5    DLX1    NKX2-5    DLX2    MSX1
    DLX4    DLX6    DBX2    HOXB1    HLX    BARX1
    POU6F1

    DLX3 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), 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 DLX3 (see all 176)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38400661,2
    C--48067657(+) CTCTT-/AAAAAA 1 -- ut310--------
    rs610873921,2
    C--48067712(+) TTTTT-/T/TT  
            
    CAATG
    2 -- ut310--------
    rs105851231,2
    C--48072721(+) ctctc-/TCtctct 1 -- us2k1 trp31Minor allele frequency- TC:0.00NA 2
    rs1450646111,2
    --49080249(+) CACAGA/TGCTAG 1 -- ds50010--------
    rs124535591,2
    C,H--49080266(+) CCCCAC/TTGAGG 1 -- ds50014Minor allele frequency- T:0.08NA WA EA 360
    rs124513041,2
    C,F,A,H--49080361(+) TGGGCG/ATGGAG 1 -- ds500114Minor allele frequency- A:0.06NA WA CSA EA 378
    rs1839000181,2
    --49080439(+) TGACCC/TGGCGG 1 -- ds50010--------
    rs129460031,2
    C,F--49080447(+) CGGCGA/GTGCAG 1 -- ds500111Minor allele frequency- G:0.32NA WA CSA EA 374
    rs38038761,2
    C,F,A,H--49080802(+) AGGCTA/GGGAGG 1 -- ut31 ese321Minor allele frequency- G:0.37NS EA NA WA CSA 2330
    rs1867726091,2
    --49080897(+) AAAACC/TCAAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DLX3 (48067369 - 48072588 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DLX3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833474CNV Loss17160897
    nsv908588CNV Loss21882294
    nsv908589CNV Loss21882294

    Human Gene Mutation Database (HGMD): DLX3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DLX3
    DNA2.0 Custom Variant and Variant Library Synthesis for DLX3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600525   
    OMIM disorders: 190320  104510  
    UniProtKB/Swiss-Prot: DLX3_HUMAN, O60479
  • Trichodentoosseous syndrome (TDO) [MIM:190320]: An autosomal dominant disease characterized by curly
    kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of
    craniofacial morphology. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Amelogenesis imperfecta 4 (AI4) [MIM:104510]: An autosomal dominant defect of enamel formation associated
    with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20 diseases for DLX3:    
    About MalaCards
    dental enamel hypoplasia    amelogenesis imperfecta, type iv    taurodontism    tricho-dento-osseous syndrome
    trichodontoosseous syndrome    amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism    amelogenesis imperfecta    dentinogenesis imperfecta
    choriocarcinoma    labyrinthitis    ectodermal dysplasia    cleft lip
    cleft palate    atopic dermatitis    dermatitis    lymphoblastic leukemia
    multiple myeloma    myeloma    leukemia    cervicitis

    1 disease from the University of Copenhagen DISEASES database for DLX3:
    Dental enamel hypoplasia

    DLX3 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for DLX3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tdo syndrome 98.7 5 18684741 (1), 18492670 (1), 17950683 (1), 18203197 (1)
    taurodontism 91.8 2 17552940 (1), 18362318 (1)
    amelogenesis imperfecta 84.4 1 18362318 (1)
    choriocarcinoma 43.5 5 14670999 (4), 16687405 (1)

    Genetic Association Database (GAD): DLX3
    Human Genome Epidemiology (HuGE) Navigator: DLX3 (5 documents)

    Export disorders for DLX3 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 DLX3 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with DLX3)
        Utopia: connect your pdf to the dynamic
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    1. Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome. (PubMed id 15454107)1, 4, 9 Haldeman R.J....Wright J.T. (Bone 2004)
    2. Genomic structure and functional control of the Dlx3-7 bigene cluster. (PubMed id 11792834)1, 2, 9 Sumiyama K.... Ruddle F.H. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    4. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
    5. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. (PubMed id 16247549)1, 4 Ichikawa E....Yoshiura K. (J. Hum. Genet. 2006)
    6. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. (PubMed id 15666299)1, 2 Dong J.... MacDougall M. (Am. J. Med. Genet. A 2005)
    7. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    8. 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. (Genome Res. 2004)
    9. Identification of a mutation in DLX3 associated with tricho-dento- osseous (TDO) syndrome. (PubMed id 9467018)1, 2 Price J.A.... Hart T.C. (Hum. Mol. Genet. 1998)
    10. Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization. (PubMed id 7613049)1, 3 Scherer S.W....Tsui L.C. (Mamm. Genome 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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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: 1747 HGNC: 2916 AceView: DLX3 Ensembl:ENSG00000064195 euGenes: HUgn1747
    ECgene: DLX3 H-InvDB: DLX3

    (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 DLX3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DLX3 gene:
    Search GeneIP for patents involving DLX3

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



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