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

DLX3 Gene

protein-coding   GIFtS: 55
GCID: GC17M048067

distal-less homeobox 3

(Previous name: distal-less homeo box 3 )
 Explore 18 diseases affiliated with
DLX3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DLX3    

Aliases
for DLX3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for DLX3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DLX3:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 plasmid: DLX3 promoter sequence
   Search SABiosciences Chromatin IP Primers for DLX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for DLX3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DLX3_HUMAN, O60479 (See protein sequence)
Recommended Name: Homeobox protein DLX-3  
Size: 287 amino acids; 31738 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: B3KQL6

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60479

    • DLX3 Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins: NP_005211.1  
    ENSEMBL proteins: 
     ENSP00000389870   ENSP00000449976  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: DLX3
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    Novus Biologicals DLX3 Proteins
    Novus Biologicals DLX3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DLX3

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

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


    DLX3 for ontologies           About GeneDecksing



    DLX3 Antibody Products: 
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    ThermoFisher Antibodies for DLX3

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    Uscn ELISAs and CLIAs for DLX3

    Protein Domains /
    Families
    for DLX3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DLX3 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000047 HTH_motif
     IPR022135 Distal-less_N
     IPR017970 Homeobox_CS
     IPR020479 Homeobox_metazoa
     IPR001356 Homeodomain

    Graphical View of Domain Structure for InterPro Entry O60479

    ProtoNet protein and cluster: O60479

    1 Blocks protein family: 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


    Function
    for DLX3 gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DLX3
    8/32 QIAGEN miScript miRNA 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 plasmid: DLX3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DLX3 (see all 7)
    OriGene shRNA RFP: DLX3
    OriGene siRNA: DLX3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLX3

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLX3 (see all 3)
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    GenScript: all cDNA clones in your preferred vector: DLX3 (NM_005220)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLX3 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for DLX3
    Search LifeMap BioReagents cell lines for DLX3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLX3

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--


    DLX3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for DLX3:
     Increased G1 DNA content 

    Animal Models:
         Mouse knock-out Dlx3tm1Mso for DLX3
         6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Dlx3):
     cardiovascular system  embryogenesis  endocrine/exocrine gland  growth/size  integument 
     mortality/aging 

    DLX3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DLX3 gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Selected targets of C/EBPbeta
    		Selected targets of C/EBPbeta1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for DLX3
        Selected targets of C/EBPbeta




    DLX3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0001890placenta development IEA--
    GO:0006355regulation of transcription, DNA-dependent ----


    DLX3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DLX3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DLX3
    Search CenterWatch for drugs/clinical trials and news about DLX3 

    Transcripts
    for DLX3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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:             		 OriGene 3'-UTR Clone: DLX3
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DLX3
    8/32 QIAGEN miScript miRNA 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 plasmid: DLX3 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DLX3 (see all 7)
    OriGene shRNA RFP: DLX3
    OriGene siRNA: DLX3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLX3
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLX3 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DLX3 (see all 2)
    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
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DLX3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DLX3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLX3

    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.40263967  DT.97820872 

    24/47 AceView cDNA sequences (see all 47):

    BI092811 NM_005220 CB991969 BI091134 CB996798 BC012361 BE536615 BX117338 
    AI080000 BQ023925 BI057223 BX094517 BG773588 AI633552 AA604314 BI093935 
    AK075167 BC028970 BV197602 BM478329 AI769274 BQ222038 AI250925 AU280795 

    GeneLoc Exon Structure


    Expression
    for DLX3 gene

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

    DLX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCCTCCTGG

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

    DLX3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/22 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 22) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Growth PlateHypertrophic ChondrocytesBone, Cartilage
    BoneAutopod PeriosteumEndochondral OsteoblastsBone
    BoneAutopod PeriosteumImmature Endochondral OsteoblastsBone
    BoneCervical VertebraeEndochondral OsteoblastsBone
    BoneCervical VertebraeImmature Endochondral OsteoblastsBone
    BoneLumbar VertebraeEndochondral OsteoblastsBone
    BoneLumbar VertebraeImmature Endochondral OsteoblastsBone
    BoneSacral VertebraeEndochondral OsteoblastsBone
    BoneSacral VertebraeImmature Endochondral OsteoblastsBone
    BoneStylopod Growth PlateHypertrophic ChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Syncytiotrophoblast-like cells (Generation of syncyt...)

    Genevestigator expression for DLX3

    SOURCE GeneReport for Unigene cluster: Hs.134194
        SABiosciences Expression via Pathway-Focused PCR Array including DLX3: 
              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 DLX3

    Orthologs
    for DLX3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for DLX3 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DLX31 distal-less homeobox 3 78.9(n)
    80.58(a)    		   395590  NM_204804.1  NP_990135.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DLX36
    		 --
    		 78(a)
    		 1 ↔ 1
    		 6(77132221-77147856)
    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 
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-436
    		 Homeobox protein ceh-43
    		 21(a)
    		 1 → many
    		 III(4446606-4449912)


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

    Paralogs
    for DLX3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DLX3 gene
    DLX22  BARX12  BSX2  DLX52  DLX62  BARHL22  BARHL12  DLX42  
    BARX22  DLX12  MSX22  MSX12  
    14 SIMAP similar genes for DLX3 using alignment to 2 protein entries:     DLX3_HUMAN (see all proteins):
    HMX2    DLX5    NKX2-5    DLX1    DLX2    MSX1
    DLX4    DLX6    DBX2    HOXB1    HLX    BARX1
    POU6F1    BARHL1

    DLX3 for paralogs           About GeneDecksing



    Genomic Variants
    for DLX3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/139 NCBI SNPs in DLX3 are shown (see all 139)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs38038791,2
    		H--43432461(+) GCAGGG/CAGGAG 1 -- ut31 ese3 trp35Minor allele frequency- C:0.01EA NS 1496
    rs1134061481,2
    		--43432727(+) GCTCGG/AAGCAA 1 -- ut312Minor allele frequency- A:0.04CSA WA 120
    rs777981061,2
    		C,F,--43433034(+) GGAACG/AGAGGA 1 -- ut311Minor allele frequency- A:0.03NA 120
    rs786170631,2
    		C,F,--43433219(+) TCTTAT/CTGGCC 1 -- ut311Minor allele frequency- C:0.08WA 118
    rs37445401,2
    		C,--43433653(-) CCTCCA/GTCCTA 1 -- ut31 ese30--------
    rs751072891,2
    		F,--43434116(+) CAACCC/ATGGGA 1 -- int12Minor allele frequency- A:0.06WA EA 238
    rs748507651,2
    		--43434788(+) CCCCCC/TCCCCC 1 -- int10--------
    rs99085931,2
    		C,--43434888(+) CACAGA/CCACAA 1 -- int10--------
    rs1146352371,2
    		C,F,--43435069(+) GTGCTG/AAGCAG 1 -- int11Minor allele frequency- A:0.02WA 118
    rs728391761,2
    		C,F,--43435375(+) TCTGGA/TGTAGG 1 -- int11Minor allele frequency- T:0.03NA 120

    HapMap Linkage Disequilibrium report for DLX3 (48067369 - 48072588 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DLX3: --
    Human Gene Mutation Database (HGMD): DLX3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DLX3
    DNA2.0 Custom Variant and Variant Library Synthesis for DLX3

    Disorders / Diseases
    for DLX3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DLX3 for disorders           About GeneDecksing

    OMIM gene information: 600525   
    OMIM disorders: 190320  104510  
    UniProtKB/Swiss-Prot: DLX3_HUMAN, O60479
  • Defects in DLX3 are a cause of trichodentoosseous syndrome (TDO) [MIM:190320]. TDO is an autosomal dominant
    • syndrome characterized by enamel hypoplasia and hypocalcification with associated strikingly curly hair
  • Defects in DLX3 are the cause of amelogenesis imperfecta type 4 (AI4) [MIM:104510]; also known as amelogenesis
    • imperfecta hypomaturation-hypoplastic type with taurodontism. AI4 is an autosomal dominant defect of enamel formation
    associated with enlarged pulp chambers

    18 diseases for DLX3:    About MalaCards
    amelogenesis imperfecta    taurodontism    tricho-dento-osseous syndrome    dental enamel hypoplasia
    cleft lip/palate    dentinogenesis imperfecta    cleft lip    trichodontoosseous syndrome
    ectodermal dysplasia    cleft palate    atopic dermatitis    acute lymphoblastic leukemia
    lymphoblastic leukemia    choriocarcinoma    dermatitis    pharyngitis
    leukemia    neuronitis

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

    4 Novoseek 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

    Publications
    for DLX3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DLX3 gene, integrated from 9 sources (see all 57):
    (articles sorted by number of sources associating them with DLX3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. (2004)
    2. Genomic structure and functional control of the Dlx3-7 bigene cluster. (PubMed id 11792834)1, 2, 9 Sumiyama K.... Ruddle F.H. (2002)
    3. 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. (2006)
    4. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. (PubMed id 15666299)1, 2 Dong J.... MacDougall M. (2005)
    5. 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. (2005)
    6. 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)
    7. Identification of a mutation in DLX3 associated with tricho-dento- osseous (TDO) syndrome. (PubMed id 9467018)1, 2 Price J.A.... Hart T.C. (1998)
    8. 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. (1995)
    9. Smad6 represses Dlx3 transcriptional activity through inhibition of DNA binding. (PubMed id 16687405)1, 9 Berghorn K.A....Roberson M.S. (2006)
    10. A role for CCAAT/enhancer-binding protein beta in the basal regulation of the distal-less 3 gene promoter in placental cells. (PubMed id 14670999)1, 9 Holland M.P....Roberson M.S. (2004)

    External Searches for DLX3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    Genome Databases showing DLX3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1747 HGNC: 2916 AceView: DLX3 Ensembl:ENSG00000064195 euGenes: HUgn1747
    ECgene: DLX3 H-InvDB: DLX3

    Other Databases showing DLX3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DLX3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DLX3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DLX3 gene

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

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