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

DLX5 Gene

protein-coding   GIFtS: 64
GCID: GC07M096649

Distal-Less Homeobox 5

(Previous name: distal-less homeo box 5)
  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
Distal-Less Homeobox 51 2
Distal-Less Homeo Box 51 2
SHFM1D2
Homeobox Protein DLX-52
Split Hand/Foot Malformation Type 1 With Sensorineural Hearing Loss2

External Ids:    HGNC: 29181   Entrez Gene: 17492   Ensembl: ENSG000001058807   OMIM: 6000285   UniProtKB: P561783   

Export aliases for DLX5 gene to outside databases

Previous GC identifers: GC07M095184 GC07M096247 GC07M096261 GC07M096294 GC07M096487 GC07M091251


(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 DLX5 Gene:
This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less
gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which
is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may
be associated with split-hand/split-foot malformation. (provided by RefSeq, Jul 2008)

GeneCards Summary for DLX5 Gene: 
DLX5 (distal-less homeobox 5) is a protein-coding gene. Diseases associated with DLX5 include sensorineural hearing loss, and split hand. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is DLX2.

UniProtKB/Swiss-Prot: DLX5_HUMAN, P56178
Function: Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive
transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a
RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast
differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive
regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the
homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3'
consensus sequence for DNA-binding

Gene Wiki entry for DLX5 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_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DLX5 gene promoter:
         c-Fos   PPAR-gamma1   AP-1   ATF-2   MyoD   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DLX5 promoter sequence
   Search SABiosciences Chromatin IP Primers for DLX5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DLX5


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

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q21.3   HGNC cytogenetic band: 7q21.3

DLX5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLX5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M096649:  view genomic region     (about GC identifiers)

Start:
96,649,702 bp from pter      End:
96,654,409 bp from pter
Size:
4,708 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 95,972,198-95,976,639     

(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: DLX5_HUMAN, P56178 (See protein sequence)
Recommended Name: Homeobox protein DLX-5  
Size: 289 amino acids; 31540 Da
Subunit: Interacts with XRCC6 (Ku70)
Subcellular location: Nucleus (By similarity)
Developmental stage: First expressed in embryos at 8.5-9 days in facial and branchial arch mesenchyme, otic
vesicles and frontonasal ectoderm around olfactory placodes, a day later expression is seen in the developing
forebrain in primordia of the ganglionic eminence and ventral diencephalic regions. In day 12.5 embryos,
expressed in the brain and bones, and also in all skeletal structures of midgestation embryos after the first
cartilage formation. Expression remains unaltered in both brain and skeleton in day 15 embryos and slowly
decreases in day 17 embryos
1 PDB 3D structure from and Proteopedia for DLX5:
2DJN (3D)    
Secondary accessions: Q9UPL1

Explore the universe of human proteins at neXtProt for DLX5: NX_P56178

Explore proteomics data for DLX5 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated. Phosphorylation of Ser-34 and Ser-217 by MAPK14 enhances its transcriptional activity.
    Phosphorylation by CaMK2 increases its protein stability (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P56178

  • DLX5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DLX5 Protein Expression
    REFSEQ proteins: NP_005212.1  
    ENSEMBL proteins: 
     ENSP00000222598   ENSP00000475008  

    Human Recombinant Protein Products for DLX5: 
    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for DLX5
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for DLX5
    GenScript Custom Purified and Recombinant Proteins Services for DLX5
    Novus Biologicals DLX5 Protein
    Novus Biologicals DLX5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DLX5 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ISS--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    DLX5 for ontologies           About GeneDecksing



    DLX5 Antibody Products: 
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    Novus Biologicals DLX5 Antibodies
    Abcam antibodies for DLX5
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    ThermoFisher Antibodies for DLX5
    LSBio Antibodies in human, mouse, rat for DLX5 

    Assay Products for DLX5: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for DLX5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DLX5 
    Cloud-Clone Corp. CLIAs for DLX5


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

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

    Graphical View of Domain Structure for InterPro Entry P56178

    ProtoNet protein and cluster: P56178

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

    UniProtKB/Swiss-Prot: DLX5_HUMAN, P56178
    Similarity: Belongs to the distal-less homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    DLX5 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: DLX5_HUMAN, P56178
    Function: Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive
    transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a
    RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast
    differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive
    regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the
    homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3'
    consensus sequence for DNA-binding

         Genatlas biochemistry entry for DLX5:
    Drosophila distal less homolog Dlx5,homeo domain encoding gene,expressed in brain and skeleton

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding ISS--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0005515protein binding ----
         
    DLX5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DLX5:
     Decreased nuclei size in G2M 

         15/18 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Dlx5) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size  hearing/vestibular/ear  integument  limbs/digits/tail 
     mortality/aging  muscle  nervous system  normal  respiratory system 

    DLX5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dlx5tm1Jlr for DLX5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DLX5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DLX5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DLX5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DLX5 

    miRNA
    Products:
        
    miRTarBase miRNAs that target DLX5:
    hsa-mir-200a (MIRT000204), hsa-mir-141 (MIRT000320)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DLX5
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate DLX5 (see all 13):
    hsa-miR-203 hsa-miR-3607-3p hsa-miR-376b hsa-let-7i* hsa-miR-767-5p hsa-miR-376a hsa-miR-124 hsa-miR-582-5p
    SwitchGear 3'UTR luciferase reporter plasmidDLX5 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DLX5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLX5

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of DLX5

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector: DLX5 (NM_005221)
    Sino Biological Human cDNA Clone for DLX5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLX5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLX5
    Sirion Biotech Customized lentivirus for stable overexpression of DLX5 
                         Customized lentivirus expression plasmids for stable overexpression of DLX5 

    Cell Line
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    LifeMap BioReagents: cell line associated with DLX5: PureStem MEL2, NCr-fac Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLX5


    (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 DLX5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    2Neural Crest Differentiation
    Neural Crest Differentiation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for DLX5
        Transcription factors in neurogenesis


    1 BioSystems Pathway for DLX5
        Neural Crest Differentiation




    DLX5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DLX5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/16 Interacting proteins for DLX5 (P561783 ENSP000002225984) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGED1Q9Y5V33, ENSP000003648474I2D: score=3 STRING: ENSP00000364847
    MSX1P283603, ENSP000003721704I2D: score=1 STRING: ENSP00000372170
    NCOA2Q155963, ENSP000003999684I2D: score=1 STRING: ENSP00000399968
    SPENQ96T583, ENSP000003649124I2D: score=1 STRING: ENSP00000364912
    DLX2Q076873, ENSP000002341984I2D: score=1 STRING: ENSP00000234198
    About this table

    Gene Ontology (GO): 5/26 biological process terms (GO ID links to tree view) (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS7907794
    GO:0001649osteoblast differentiation ISS--
    GO:0001958endochondral ossification ISS--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007399nervous system development TAS7907794

    DLX5 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

    DLX5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DLX5

    3 Novoseek inferred chemical compound relationships for DLX5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 21.6 6 16225832 (1), 17363207 (1), 18302128 (1)
    cycloheximide 10.5 2 16949358 (1), 12815054 (1)
    dexamethasone 8.41 7 16949358 (4)

    Search CenterWatch for drugs/clinical trials and news about DLX5

    (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 DLX5 gene: 
    NM_005221.5  

    Unigene Cluster for DLX5:

    Distal-less homeobox 5
    Hs.99348  [show with all ESTs]
    Unigene Representative Sequence: NM_005221
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222598(uc003uon.3) ENST00000493764 ENST00000486603(uc011kim.1)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DLX5
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate DLX5 (see all 13):
    hsa-miR-203 hsa-miR-3607-3p hsa-miR-376b hsa-let-7i* hsa-miR-767-5p hsa-miR-376a hsa-miR-124 hsa-miR-582-5p
    SwitchGear 3'UTR luciferase reporter plasmidDLX5 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DLX5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLX5

    Additional mRNA sequence: 

    AK023493.1 AK297614.1 BC006226.2 BT006903.1 

    3 DOTS entries:

    DT.110740  DT.95257721  DT.92018316 

    24/53 AceView cDNA sequences (see all 53):

    BI914024 BF059057 CR593435 CA412924 BT006903 CR609058 CF530066 NM_005221 
    AA369050 BU198017 BC006226 BQ573773 AI278397 AA453884 AI683183 BX431520 
    BX453494 BE796939 BM044832 AI796331 AL535526 T05067 BI913693 AU135630 

    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

    DLX5 expression in normal human tissues (normalized intensities)      DLX5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATAAGTG
    DLX5 Expression
    About this image


    DLX5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/25 selected tissues (see all 25) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 39 entries
             Endochondral Preosteoblasts Caudal Endochondral Bones
             Mandibular Process
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Human Calvarial Osteoblasts (HCO)   
             sensory organ/ear/inner ear   
     
     Brain (Nervous System)    fully expand to see all 23 entries
             Thalamus
             N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             Fetal Neuronal Stem Cells (NSC)   
             superior temporal gyrus   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 15 entries
             Prechondrocytes Synchondroses
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             skeleton/cranium   
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 9 entries
             Diencephalic Neural Crest Cells Prechordal Mesenchyme
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 6 entries
             Diencephalic Neural Crest Cells Prechordal Mesenchyme
             PureStem MEL2, NCr-fac Progenitor
             skeleton/cranium   

    See DLX5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DLX5

    SOURCE GeneReport for Unigene cluster: Hs.99348
        SABiosciences Expression via Pathway-Focused PCR Arrays including DLX5: 
              Osteogenesis in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLX5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLX5

    (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 DLX5 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dlx51 , 5 distal-less homeobox 51, 5 92.96(n)1
    96.54(a)1
      6 (2.83 cM)5
    133951  NM_010056.21  NP_034186.21 
     68778055 
    chicken
    (Gallus gallus)
    Aves DLX51 distal-less homeobox 5 83.8(n)
    86.71(a)
      373969  NM_204159.1  NP_989490.1 
    lizard
    (Anolis carolinensis)
    Reptilia DLX56
    Uncharacterized protein
    81(a)
    1 ↔ 1
    6(23265819-23277594)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.184012 Xenopus laevis putative transcription factor DLL3 mRNA, complete cds less 76.94(n)    L09729.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dlx5a2 distal-less homeobox gene 5a 79.21(n)   30569  NM_131306.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dll6
    Distal-less
    24(a)
    1 → many
    2R(20702353-20722686)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-431 Protein CEH-43 44.61(n)
    44.95(a)
      175581  NM_065503.2  NP_497904.1 


    ENSEMBL Gene Tree for DLX5 (if available)
    TreeFam Gene Tree for DLX5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DLX5 gene
    DLX22  BARX12  NKX1-12  VENTX2  BARHL12  BARHL22  BARX22  DLX12  
    DLX32  LBX22  NKX1-22  BSX2  DLX62  DLX42  LBX12  MSX22  
    MSX12  
    5 SIMAP similar genes for DLX5 using alignment to 2 protein entries:     DLX5_HUMAN (see all proteins):
    DLX3    DLX6    DLX2    DLX1    POU6F1

    DLX5 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

    10/168 SNPs in DLX5 are shown (see all 168)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0674134
    Split-hand/foot malformation 1, with sensorineural hearing loss (SHFM1D)4--see VAR_0674132 Q P mis40--------
    rs30283401,2
    C--96649502(+) TATAT-/AT/TA 
            
    GCACA
    1 -- ds50011NA 2
    rs32142181,2
    C--96649884(+) GGGGGG/-TCTTT 1 -- ut312Minor allele frequency- -:0.25NA CSA 4
    rs1833752611,2
    --99952872(+) TTTTTA/TAAAAA 1 -- ds50010--------
    rs12077311,2
    C,F,H--99953014(-) TAAGCT/GCAAAG 1 -- ds5001108Minor allele frequency- G:0.16NS EA NA PA EU CA WA 6918
    rs9823461,2
    C,F,H--99953029(+) TCAGAG/AGGGTT 1 -- ds500123Minor allele frequency- A:0.10NA NS EA WA 2728
    rs1872548081,2
    --99953111(+) CTTTCC/TACCTG 1 -- ds50010--------
    rs1916656021,2
    --99953166(+) TATTAC/TATATA 1 -- ds50010--------
    rs125334691,2
    C,F,A,H--99953184(+) ACACAC/AACACA 1 -- ds500118Minor allele frequency- A:0.25NS EA NA CSA WA 2340
    rs1838317451,2
    --99953296(+) TTCTTC/TAGTTG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for DLX5 (96649702 - 96654409 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DLX5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv824221CNV Gain20364138


    Human Gene Mutation Database (HGMD): DLX5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DLX5
    DNA2.0 Custom Variant and Variant Library Synthesis for DLX5

    (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.)
    About This Section
    OMIM gene information: 600028    OMIM disorders: --

    UniProtKB/Swiss-Prot: DLX5_HUMAN, P56178
  • Split-hand/foot malformation 1, with sensorineural hearing loss (SHFM1D) [MIM:220600]: A disease
    characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a
    limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the
    hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have
    been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/21 diseases for DLX5 (see all 21):    About MalaCards
    sensorineural hearing loss    split hand    split foot    rapp-hodgkin syndrome
    aortic valve stenosis    split hand foot malformation    mental retardation epilepsy    rett syndrome
    tooth agenesis    craniosynostosis    orofacial cleft    syndactyly
    acute lymphoblastic leukemia    lymphoblastic leukemia    mental retardation    lung cancer
    ovarian cancer    melanoma    leukemia    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for DLX5:
    Rett syndrome     Autistic disorder

    DLX5 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for DLX5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rett syndrome 78.4 3 17701895 (2), 17363207 (1)

    Genetic Association Database (GAD): DLX5
    Human Genome Epidemiology (HuGE) Navigator: DLX5 (3 documents)

    Export disorders for DLX5 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 DLX5 gene, integrated from 9 sources (see all 105):
    (articles sorted by number of sources associating them with DLX5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of two members of the vertebrate Dlx gene family. (PubMed id 7907794)1, 2, 3, 9 Simeone A....Boncinelli E. (1994)
    2. DLX5 (distal-less homeobox 5) promotes tumor cell proliferation by transcriptionally regulating MYC. (PubMed id 19497851)1, 2, 9 Xu J. and Testa J.R. (2009)
    3. Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. (PubMed id 22121204)1, 2 Shamseldin H.E.... Alkuraya F.S. (2012)
    4. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    5. 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. (2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    9. Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PubMed id 12145306)1, 2 Willis D.M.... Towler D.A. (2002)
    10. Expression analysis and mutation detection of DLX5 an d DLX6 in autism. (PubMed id 19195802)1, 9 Nakashima N....Momoi M.Y. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1749 HGNC: 2918 AceView: DLX5 Ensembl:ENSG00000105880 euGenes: HUgn1749
    ECgene: DLX5 H-InvDB: DLX5

    (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 DLX5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DLX5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DLX5 gene:
    Search GeneIP for patents involving DLX5

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



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    About This Section

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     Proteins for DLX5
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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