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

DLX5 Gene

protein-coding   GIFtS: 62
GCID: GC07M096649

distal-less homeobox 5

(Previous name: distal-less homeo box 5 )
 Explore 18 diseases affiliated with
DLX5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DLX5    

Aliases
for DLX5 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 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


Summaries
for DLX5 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 DLX5:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  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     

Proteins
for DLX5 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: 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

Post-translational modifications:

  • Phosphorylated. Phosphorylation of Ser-34 and Ser-217 by MAPK14 enhances its transcriptional activity. Phosphorylation
    • by CaMK2 increases its protein stability (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P56178

    • DLX5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005212.1  
    ENSEMBL proteins: 
     ENSP00000222598  

    Human Recombinant Protein Products: 
    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: DLX5
    OriGene Custom Protein Services for DLX5 
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    Novus Biologicals DLX5 Protein
    Novus Biologicals DLX5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of DLX5
    R&D Systems Antibodies for DLX5
    OriGene Antibodies (see all 2): DLX5
    OriGene Custom Antibody Services for DLX5 
    GenScript Custom Superior Antibodies Services for DLX5
    Novus Biologicals DLX5 Antibodies
    Abcam antibodies for DLX5 
    Uscn Antibodies for DLX5
    ThermoFisher Antibodies for DLX5

    Assay Products for DLX5: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DLX5
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DLX5

    Protein Domains /
    Families
    for DLX5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DLX5 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 P56178

    ProtoNet protein and cluster: P56178

    1 Blocks protein family: 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


    Function
    for DLX5 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: 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

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

    OriGene 3'-UTR Clone: DLX5
    Browse MicroRNA Expression Plasmids
    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 plasmid: DLX5 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 DLX5 (see all 7)
    OriGene shRNA RFP: DLX5
    OriGene siRNA: DLX5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLX5

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DLX5

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLX5 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DLX5
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DLX5 (NM_005221)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLX5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLX5 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for DLX5
    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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding ----
    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 ----
    GO:0044212transcription regulatory region DNA binding IDA19497851
    GO:0071837HMG box domain binding IEA--


    DLX5 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Dlx5tm1Jlr for DLX5
         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


    Pathways & Interactions
    for DLX5 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
    1Transcription factors in neurogenesis
    		Transcription factors in neurogenesis1.00
    2Neural Crest Differentiation
    		Neural Crest Differentiation1.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/27 biological process terms (GO ID links to tree view) (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS7907794
    GO:0001649osteoblast differentiation ISS--
    GO:0001958endochondral ossification ISS--
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ----


    DLX5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DLX5 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

    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 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 

    Transcripts
    for DLX5 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 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
    Products:             		 OriGene 3'-UTR Clone: DLX5
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: DLX5 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 DLX5 (see all 7)
    OriGene shRNA RFP: DLX5
    OriGene siRNA: DLX5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLX5
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLX5 (see all 4)
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    GenScript: all cDNA clones in your preferred vector: DLX5 (NM_005221)
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    Primer
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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 cDNA 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):

    CR593435 CA412924 BI914024 BQ573773 BC006226 CR609058 CF530066 NM_005221 
    BF059057 BU198017 BT006903 AA369050 BI914908 BG054868 BX431520 AK023493 
    AA453884 BI913693 BQ771908 AA453799 AL535526 BM044832 BX453494 AI278397 

    GeneLoc Exon Structure


    Expression
    for DLX5 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

    DLX5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAATAAGTG

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

    DLX5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/42 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 42) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymePrechordal MesenchymeDiencephalic Neural Crest CellsNeural Crest
    BoneAutopod PeriosteumEndochondral OsteoblastsBone
    BoneAutopod PeriosteumImmature Endochondral OsteoblastsBone
    BoneCaudal Endochondral BonesEndochondral PreosteoblastsBone
    BoneCaudal Endochondral BonesHypertrophic ChondrocytesBone, Cartilage
    BoneCaudal Endochondral BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneCervical VertebraeEndochondral OsteoblastsBone
    BoneCervical VertebraeImmature Endochondral OsteoblastsBone
    BoneEndochondral Facial BonesHypertrophic ChondrocytesBone, Cartilage
    BoneEndochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    N2/LSB/S/F8-induced cells (Generation of midbra...)
    Syncytiotrophoblast-like cells (Generation of syncyt...)
    HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)Bone
    HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage

    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
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DLX5
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DLX5
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DLX5
    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
    for DLX5 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 DLX5 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 80(a)
    		 1 ↔ 1
    		 6(23267141-23277148)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.184012 Xenopus laevis putative transcription factor DLL3 mRNA, more 76.94(n)    L09729.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii dlx5a2 distal-less homeobox gene 5a 79.21(n)   30569  NM_131306.1 
    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
    for DLX5 gene

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

    DLX5 for paralogs           About GeneDecksing



    Genomic Variants
    for DLX5 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

    10/130 NCBI SNPs in DLX5 are shown (see all 130)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1434443941,2
    		C--91251259(+) CCAGT-/TATC  
                AGAGG     		1 -- ds50010--------
    rs9823461,2
    		C,F,H,--95971871(+) TCAGAG/AGGGTT 1 -- ds500123Minor allele frequency- A:0.10NA NS EA WA 2728
    rs773826151,2
    		C,--95972380(+) AAAAAA/GGGGGG 1 -- ut310--------
    rs1127727471,2
    		C,--95972380(+) AAAAAG/-GGGGG 1 -- ut311Minor allele frequency- -:0.00CSA 2
    rs756244421,2
    		--95974336(+) ATGCAC/TCTACC 1 -- int10--------
    rs790396501,2
    		F,--95974345(+) CCCCAA/CATATG 1 -- int11Minor allele frequency- C:0.03WA 118
    rs97693851,2
    		C,F,H,--95974481(+) TCCCGG/AACTTG 1 -- int118Minor allele frequency- A:0.09NS EA NA WA CSA 2154
    rs1115649341,2
    		C,F,--95974712(+) CAGCAG/AGCGGT 1 -- int12Minor allele frequency- A:0.50NA 4
    rs760383661,2
    		F,--95974915(+) CCCGGG/TGCTCT 1 -- int11Minor allele frequency- T:0.07WA 118
    rs752901581,2
    		--95974955(+) GAGAAA/GGAACC 1 -- int10--------

    HapMap Linkage Disequilibrium report for DLX5 (96649702 - 96654409 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DLX5: --
    Human Gene Mutation Database (HGMD): DLX5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DLX5
    DNA2.0 Custom Variant and Variant Library Synthesis for DLX5

    Disorders / Diseases
    for DLX5 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
    DLX5 for disorders           About GeneDecksing

    OMIM gene information: 600028    OMIM disorders: --

    UniProtKB/Swiss-Prot: DLX5_HUMAN, P56178
  • Defects in DLX5 are the cause of split-hand/foot malformation type 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

    18 diseases for DLX5:    About MalaCards
    split hand/foot malformation    sensorineural hearing loss    hearing loss    aortic valve stenosis
    mental retardation epilepsy    tooth agenesis    rett syndrome    ectrodactyly
    acute lymphoblastic leukemia    lymphoblastic leukemia    craniosynostosis    ovarian cancer
    pharyngitis    leukemia    lung cancer    breast cancer
    melanoma    neuronitis

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

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: DLX5 (3 documents)

    Export disorders for DLX5 gene to outside databases

    Publications
    for DLX5 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 DLX5 gene, integrated from 9 sources (see all 102):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    7. 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)
    8. Expression analysis and mutation detection of DLX5 an d DLX6 in autism. (PubMed id 19195802)1, 9 Nakashima N....Momoi M.Y. (2010)
    9. DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. (PubMed id 17701895)1, 9 Schule B....Francke U. (2007)
    10. Activation of placenta-specific transcription factor distal-less homeobox 5 predicts clinical outcome in primary lung cancer patients. (PubMed id 18413826)1, 9 Kato T....Daigo Y. (2008)

    External Searches for DLX5 gene

    (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)

    Genome Databases showing DLX5 gene

    (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

    Other Databases showing DLX5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DLX5 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 DLX5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DLX5 gene

    (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



    Products
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    About This Section

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     DLX5 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Line associated with DLX5: PureStem MEL2, NCr-fac Progenitor
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