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DST Gene

protein-coding   GIFtS: 65
GCID: GC06M056322

Dystonin

(Previous names: bullous pemphigoid antigen 1, 230/240kDa)
(Previous symbol: BPAG1)
  See DST-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
dystonin1 2     HSAN62 5
BPAG11 2 3 5     Bullous Pemphigoid Antigen 1, 230/240kDa1
DMH2 3 5     CATX-152
Bullous Pemphigoid Antigen 12 3     CATX152
Dystonia Musculorum Protein2 3     MACF22
Hemidesmosomal Plaque Protein2 3     trabeculin-beta2
BP2402 3     230 KDa Bullous Pemphigoid Antigen3
BPA2 3     230/240 KDa Bullous Pemphigoid Antigen3
DT2 3     BP2303
D6S11012 5     KIAA07283
EBSB22 5     Bullous Pemphigoid Antigen3

External Ids:    HGNC: 10901   Entrez Gene: 6672   Ensembl: ENSG000001519147   OMIM: 1138105   UniProtKB: Q030013   

Export aliases for DST gene to outside databases

Previous GC identifers: GC06M056370 GC06M056430 GC06M056158


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DST Gene:
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple
alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the
full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed
in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms
are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes.
Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration.
(provided by RefSeq, Mar 2010)

GeneCards Summary for DST Gene:
DST (dystonin) is a protein-coding gene. Diseases associated with DST include hereditary sensory and autonomic neuropathy type vi, and epidermolysis bullosa simplex, sutosomal recessive 2. GO annotations related to this gene include actin binding and calcium ion binding. An important paralog of this gene is DSP.

UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001
Function: Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule
cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural
and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins
may self-aggregate to form filaments or a two-dimensional mesh
Function: Isoform 3: plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors
keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of
keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity
Function: Isoform 6: required for bundling actin filaments around the nucleus (By similarity)
Function: Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to
allow axonal transport

Gene Wiki entry for DST (Dystonin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DST gene promoter:
         PPAR-gamma1   IRF-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 12): DST promoter sequence
   Search Chromatin IP Primers for DST

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


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

Entrez Gene cytogenetic band: 6p12.1   Ensembl cytogenetic band:  6p12.1   HGNC cytogenetic band: 6p12.1

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M056322:  view genomic region     (about GC identifiers)

Start:
56,322,785 bp from pter      End:
56,819,426 bp from pter
Size:
496,642 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001 (See protein sequence)
Recommended Name: Dystonin  
Size: 7570 amino acids; 860662 Da
Subunit: Homodimer. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Interacts with the neuronal
intermediate filament protein, PRPH. Interacts with DES. Interacts with SYNE3 (By similarity). Isoform 1 and
isoform 6 can homodimerize (via N-terminus). Isoform 1 interacts (via N-terminus) with ACTN2. Isoform 1 interacts
(via N-terminus) with PLEC (via N-terminus). Isoform 3 interacts (via N-terminus) with COL17A1 (via cytoplasmic
region). Isoform 3 interacts (via N-terminus) with ITGB4 isoform beta-4a (via cytoplasmic region). Isoform 3
interacts (via N-terminus) with ERBB2IP (via C-terminus). Isoform 3 associates (via C-terminal) with KRT5-KRT14
(via rod region) intermadiate filaments of keratins. Interacts with MAPRE1; probably required for targeting to
the growing microtubule plus ends. Interacts with TMIGD2
Sequence caution: Sequence=AAA35538.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the C-terminal part; Sequence=AAA57185.1; Type=Erroneous gene model prediction;
Sequence=BAB70870.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04449.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04848.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAI14341.1; Type=Erroneous gene model prediction;
Sequence=CAI14989.1; Type=Erroneous gene model prediction; Sequence=CAI16609.1; Type=Erroneous gene model
prediction; Sequence=CAI16610.1; Type=Erroneous gene model prediction; Sequence=CAI20330.1; Type=Erroneous gene
model prediction; Sequence=CAI20332.1; Type=Erroneous gene model prediction; Sequence=CAI22044.1; Type=Erroneous
gene model prediction; Sequence=CAI22045.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for DST:
3GJO (3D)    
Secondary accessions: B7Z3H1 O94833 Q12825 Q13266 Q13267 Q13775 Q5TBT0 Q5TBT2 Q5TF23 Q5TF24
Q8N1T8 Q8N8J3 Q8WXK8 Q8WXK9 Q96AK9 Q96DQ5 Q96J76 Q96QT5 Q9H555 Q9UGD7 Q9UGD8 Q9UN10
Alternative promoter usage, Alternative splicing: 8 isoforms:  Q03001-7   Q03001-8   Q03001-3   Q03001-9   Q03001-10   Q03001-11   Q03001-12   Q03001-13   
(Probably myristoylated on Gly-2 (By similarity). Probably S-palmitoylated on Cys-5 and Cys-7 (By similarity))

Explore the universe of human proteins at neXtProt for DST: NX_Q03001

Explore proteomics data for DST at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys5470
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (5 alternative transcripts): 
    NP_001138241.1  NP_001138242.1  NP_001714.1  NP_056363.2  NP_899236.1  

    ENSEMBL proteins: 
     ENSP00000244364   ENSP00000359824   ENSP00000431020   ENSP00000354508   ENSP00000430472  
     ENSP00000431121   ENSP00000404924   ENSP00000431030   ENSP00000359801   ENSP00000428068  
     ENSP00000431003   ENSP00000393082   ENSP00000429075   ENSP00000429221   ENSP00000359790  
     ENSP00000359805   ENSP00000400883   ENSP00000393645   ENSP00000307959  
    Reactome Protein details: Q03001

    DST 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
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for DST
    GenScript Custom Purified and Recombinant Proteins Services for DST
    Novus Biologicals DST Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DST

     
    Search eBioscience for Proteins for DST 

    DST Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DST
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DST
    Novus Biologicals DST Antibodies
    Abcam antibodies for DST
    Cloud-Clone Corp. Antibodies for DST
    Search ThermoFisher Antibodies for DST
    LSBio Antibodies in human, mouse, rat for DST

    DST Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DST
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DST
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DST
    Cloud-Clone Corp. CLIAs for DST
    Search eBioscience for ELISAs for DST 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    Selected InterPro protein domains (see all 9):
     IPR003108 GAS2_dom
     IPR018247 EF_Hand_1_Ca_BS
     IPR002017 Spectrin_repeat
     IPR001715 CH-domain
     IPR011992 EF-hand-dom_pair

    Graphical View of Domain Structure for InterPro Entry Q03001

    ProtoNet protein and cluster: Q03001

    4 Blocks protein domains:
    IPB001101 Plectin repeat
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001
    Domain: Its association with epidermal and simple keratins is dependent on the tertiary structure induced by
    heterodimerization of these intermedaite filaments proteins and most likely involves recognition sites located in
    the rod domain of these keratins
    Domain: The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to
    the growing microtubule plus ends
    Similarity: Contains 1 actin-binding domain
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 1 GAR domain
    Similarity: Contains 5 plectin repeats
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 20 spectrin repeats


    Find genes that share domains with DST           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYST_HUMAN, Q03001
    Function: Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule
    cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural
    and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins
    may self-aggregate to form filaments or a two-dimensional mesh
    Function: Isoform 3: plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors
    keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of
    keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity
    Function: Isoform 6: required for bundling actin filaments around the nucleus (By similarity)
    Function: Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to
    allow axonal transport

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005178integrin binding IPI11375975
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12482924
    GO:0005524ATP binding ----
         
    Find genes that share ontologies with DST           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 21 alleles(MGI details for Dst) (see all 16):
     behavior/neurological  digestive/alimentary  growth/size/body  hematopoietic system  homeostasis/metabolism 
     integument  limbs/digits/tail  mortality/aging  muscle  nervous system 
     no phenotypic analysis  other  pigmentation  renal/urinary system  reproductive system 

    Find genes that share phenotypes with DST           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dsttm1Efu for DST

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target DST:
    hsa-mir-26a-5p (MIRT050193), hsa-mir-484 (MIRT042022), hsa-mir-335-5p (MIRT018347), hsa-mir-192-5p (MIRT026612), hsa-mir-615-3p (MIRT040309), hsa-mir-215-5p (MIRT024665), hsa-mir-32-5p (MIRT028321), hsa-mir-218-5p (MIRT046995)

    Block miRNA regulation of human, mouse, rat DST using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DST (see all 18):
    hsa-miR-4307 hsa-miR-539 hsa-miR-202 hsa-miR-1205 hsa-miR-1184 hsa-miR-144 hsa-miR-3908 hsa-miR-2276
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): DST 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DST
    Predesigned siRNA for gene silencing in human, mouse, rat DST

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

    Clone
    Products:
         
    OriGene clones in human, mouse for DST (see all 11)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DST (NM_001723)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DST
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DST

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DST


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DYST_HUMAN, Q03001: Cytoplasm, cytoskeleton. Note=Associates with intermediate filaments, acin and microtubule
    cytoskeletons. Localizes to actin stress fibers and to actin-rich ruffling at the cortex of cells (By
    similarity). Associated at the growing distal tip of microtubules
    DYST_HUMAN, Q03001: Isoform 1: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, myofibril, sarcomere, Z line.
    Cytoplasm, myofibril, sarcomere, H zone (By similarity). Note=Localizes to microtubules and actin microfilaments
    throughout the cytoplasm and at focal contact attachments at the plasma membrane (By similarity)
    DYST_HUMAN, Q03001: Isoform 2: Cytoplasm, cytoskeleton (By similarity). Note=Colocalizes both cortical and
    cytoplasmic actin filaments (By similarity)
    DYST_HUMAN, Q03001: Isoform 3: Cytoplasm, cytoskeleton. Cell junction, hemidesmosome. Note=Localizes to actin
    and intermediate filaments cytoskeletons (By similarity). Colocalizes with the epidermal KRT5-KRT14 intermediate
    filaments network of keratins. Colocalizes with ITGB4 at the leading edge of migrating keratinocytes
    DYST_HUMAN, Q03001: Isoform 6: Nucleus (By similarity). Nucleus envelope. Membrane; Single-pass membrane protein
    (By similarity). Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Cytoplasm,
    cytoskeleton. Membrane; Single-pass membrane protein. Note=Localizes to actin and intermediate filaments
    cytoskeletons. Localizes to central actin stress fibers around the nucleus and is excluded form focal contact
    sites in myoblast cells. Translocates to the nucleus (By similarity). Associates with actin cytoskeleton in
    sensory neurons
    DYST_HUMAN, Q03001: Isoform 7: Cytoplasm, cytoskeleton. Cell projection, axon. Membrane. Note=Associates with
    axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons
    DYST_HUMAN, Q03001: Isoform 8: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity).
    Cell membrane; Lipid-anchor (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endoplasmic reticulum5
    nucleus5
    plasma membrane5
    cytosol4
    extracellular4
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane TAS2461961
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope IEA--
    GO:0005737cytoplasm ISS--
    GO:0005789endoplasmic reticulum membrane IEA--

    Find genes that share ontologies with DST           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DST About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Alpha6-Beta4 Integrin Signaling Pathway
    Alpha6-Beta4 Integrin Signaling Pathway
    Type I hemidesmosome assembly0.00
    2Collagen biosynthesis and modifying enzymes
    Collagen formation0.75
    Assembly of collagen fibrils and other multimeric structures0.62
    3Cell junction organization
    Cell junction organization0.70
    Cell-Cell communication0.64
    4Degradation of the extracellular matrix
    Extracellular matrix organization0.34
    5Cytoplasmic microtubules
    Cytoskeleton remodeling Neurofilaments0.32


    Find genes that share SuperPaths with DST           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for DST
        Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Neurofilaments

    1 BioSystems Pathway for DST
        Alpha6-Beta4 Integrin Signaling Pathway

    1 Reactome Pathway for DST
        Type I hemidesmosome assembly


        Pathway & Disease-focused RT2 Profiler PCR Arrays including DST: 
              Cell Junction PathwayFinder in human mouse rat
              Focal Adhesions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DST

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DST (Q030011, 2, 3 ENSP000003597904) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DISC1Q9NRI51, 3, ENSP000003555964EBI-310758,EBI-529989 I2D: score=2 STRING: ENSP00000355596
    MAPRE1Q156911, 3, ENSP000003647214EBI-310758,EBI-1004115 I2D: score=1 STRING: ENSP00000364721
    PRKD2Q9BZL62, 3MINT-61759 I2D: score=2 
    SMAD9O151982, 3MINT-62149 I2D: score=2 
    CALM1P621583I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IDA10428034
    GO:0006810transport ----
    GO:0007010cytoskeleton organization IMP19403692
    GO:0007050cell cycle arrest IEA--
    GO:0007155cell adhesion IEA--

    Find genes that share ontologies with DST           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DST (DYST)

    Selected Novoseek inferred chemical compound relationships for DST gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kalinin 74.2 1 8357788 (1)
    bpas 72.2 1 7490478 (1)
    netropsin 50.2 8 8843321 (3), 8906887 (2)
    nacl 34.5 5 1379792 (2), 1904470 (1), 8027584 (1), 8906887 (1)
    formamide 29.6 1 11444374 (1)
    pyrrole 22.3 2 8052641 (1), 10623588 (1)
    12-o-tetradecanoylphorbol 13-acetate 14.9 8 11641060 (5), 8688920 (1)
    cycloheximide 11.1 3 7814399 (1), 11641060 (1)
    calcium 5.16 10 11641060 (4), 7852645 (1), 1426040 (1)
    oligonucleotide 0 2 8843321 (2)



    Find genes that share compounds with DST           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DST gene (7 alternative transcripts): 
    NM_001144769.2  NM_001144770.1  NM_001723.5  NM_015548.4  NM_183380.3  NM_001144771.1  NM_020388.3  

    Unigene Cluster for DST:

    Dystonin
    Hs.604915  [show with all ESTs]
    Unigene Representative Sequence: NM_015548
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 37):
    ENST00000244364(uc003pcx.4 uc003pcy.4) ENST00000370788(uc021zaz.1)
    ENST00000523292 ENST00000518464 ENST00000466429(uc003pcv.4) ENST00000482156(uc003pcw.4)
    ENST00000361203 ENST00000523597 ENST00000524216 ENST00000523943 ENST00000492944
    ENST00000517840 ENST00000487754(uc003pda.4) ENST00000459869 ENST00000340834
    ENST00000524186 ENST00000520144 ENST00000518398
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DST using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DST (see all 18):
    hsa-miR-4307 hsa-miR-539 hsa-miR-202 hsa-miR-1205 hsa-miR-1184 hsa-miR-144 hsa-miR-3908 hsa-miR-2276
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): DST 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DST
    Predesigned siRNA for gene silencing in human, mouse, rat DST
    Clone
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    OriGene clones in human, mouse for DST (see all 11)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DST
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      QuantiFast Probe-based Assays in human, mouse, rat DST

    Additional mRNA sequence: 

    AB018271.2 AF400226.1 AF400227.1 AK055189.1 AK056797.1 AK090517.1 AK094883.1 AK095166.1 
    AK096713.1 AK125655.1 AK128632.1 AK294830.1 AK295864.1 AK299898.1 AL110142.1 BC004912.2 
    BC016991.1 BC023254.1 BC051772.1 BC065536.1 L11690.1 M22942.1 M63618.1 M69225.1 
    X58677.1 X75692.1 

    Selected DOTS entries (see all 38):

    DT.91733372  DT.444773  DT.314438  DT.100021151  DT.97847550  DT.92444432  DT.100843501  DT.97792721 
    DT.101974148  DT.100843498  DT.121362799  DT.99974171  DT.95234825  DT.97791683  DT.97847549  DT.100660346 
    DT.121362790  DT.203725  DT.91755198  DT.100843507  DT.92444434  DT.75169266  DT.92444433  DT.95198212 

    3 AceView cDNA sequences:

    BF802897 AJ707571 BQ342858 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DST (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                -     -     -                                                               

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46a · 46b ^ 47a ·
    SP1:                                                                          -     -     -                                                                     
    SP2:                                                                          -                                                                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 47b ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56a · 56b ^ 57a · 57b ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 71 ^ 72 ^ 73 ^ 74a · 74b ^ 75a · 75b ^ 76 ^ 77a · 77b ^ 78a ·
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for DST

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DST expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGATCGAA
    DST Expression
    About this image


    DST expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Hair (Integumentary System)    fully expand to see all 3 entries
             Bulge Stem Cells Bulge
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Basal Cells Respiratory Bronchioles
     
     Epithelial Cells
             Primary Hair Placode Cells Hair Follicle
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    DST Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DST Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.604915

    UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001
    Tissue specificity: Isoform 1 is expressed in myoblasts (at protein level). Isoform 3 is expressed in the skin.
    Isoform 6 is expressed in the brain. Highly expressed in skeletal muscle and cultured keratinocytes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DST: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DST gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dst5 dystonin   --   1 (12.91 cM) 33908225 
    chicken
    (Gallus gallus)
    Aves DST6
    dystonin
    57(a)
    1 ↔ 1
    3(86249530-86545594)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    86(a)
    53(a)
    1 ↔ many
    1 ↔ many
    1(162434472-162451019)
    1(162451253-162708258)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX842928.12   -- 81.58(n)    BX842928.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CA471988.12   -- 78.3(n)    CA471988.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta shot1 short stop 44.11(n)
    32.99(a)
      36542  NM_079009.3  NP_523733.2 
    worm
    (Caenorhabditis elegans)
    Secernentea vab-101 vab-10 42.94(n)
    28.64(a)
      173058  NM_001026684.3  NP_001021855.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DST gene
    DSP2  MACF12  EVPLL2  EVPL2  EPPK12  PPL2  PLEC2  
    15 SIMAP similar genes for DST using alignment to 20 protein entries:     DYST_HUMAN (see all proteins):
    CATX-15    ACF7    PLEC    HSpTB1    DMD    MACF1
    SPTBN2    CLMN    ACTN1    SYNE1    FLNA    SPTBN1
    DSP variant protein    SPTBN4    SYNE2

    Find genes that share paralogs with DST           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DST (see all 6694)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3731755361,2
    C--56171507(+) AGGCA-/AC    
       
    /ACAC
    ACACA
    4 -- int10--------
    rs1997224971,2
    C--56171508(+) AGGCA-/ACACAC
            
    ACACA
    4 -- int10--------
    rs1472893211,2
    C--56216871(+) GAGAG-/AAAGAGA 4 -- int10--------
    rs346713261,2
    C--56222197(+) TATTT-/AAAAAA 4 -- int10--------
    rs1491573861,2
    C--56222353(+) CAAAC-/AGATATT 4 -- int10--------
    rs348188251,2
    C--56225614(+) AAAAAA/-TCATT 4 -- int11Minor allele frequency- -:0.00CSA 2
    rs1826148121,2
    --56227720(+) AATGTC/TGGGAC 4 -- ds50010--------
    rs93826311,2
    C,F,H--56227747(+) ACAACC/TTGCCA 4 -- ds500124Minor allele frequency- T:0.20NS EA NA WA 2704
    rs77619841,2
    C,F,A,H--56227932(+) GGGCAG/AGAACC 4 -- ds50018Minor allele frequency- A:0.10NS EA CSA WA 660
    rs1422582741,2
    --56227939(+) AACCTC/TATAGT 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for DST (56322785 - 56572785 bp, first 250kb of DST)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DST:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820249CNV Loss19587683
    nsv885912CNV Loss21882294
    nsv830666CNV Gain17160897

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

    (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.)
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    OMIM gene information: 113810   
    OMIM disorders: 614653  615425  
    UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001
  • Neuropathy, hereditary sensory and autonomic, 6 (HSAN6) [MIM:614653]: A form of hereditary sensory and
    autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration
    of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe
    autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of
    psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal
    reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine
    injection. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for DST:    
    About MalaCards
    hereditary sensory and autonomic neuropathy type vi    epidermolysis bullosa simplex, sutosomal recessive 2    herpes gestationis    herpetiform pemphigus
    bullous pemphigoid    bullous skin disease    pemphigoid gestationis    lichen planus pemphigoides
    scabies    skin disease    pemphigus    generalized pustular psoriasis
    pemphigus foliaceus    epidermolysis bullosa acquisita    epidermolysis bullosa simplex    cicatricial pemphigoid
    paraneoplastic pemphigus    junctional epidermolysis bullosa    ocular cicatricial pemphigoid

    1 disease from the University of Copenhagen DISEASES database for DST:
    Bullous pemphigoid

    Find genes that share disorders with DST           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DST gene (see all 28)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pemphigoid bullous 97.9 378 2180994 (4), 11069628 (4), 7517983 (4), 1904470 (3) (see all 99)
    gabeb 94 11 9205513 (2), 9666835 (2), 9366826 (1), 9077475 (1) (see all 8)
    epidermolysis bullosa acquisita 89.4 19 2180994 (3), 8370962 (2), 1739295 (2), 1430358 (1) (see all 15)
    skin diseases bullous 86.4 8 1379792 (1), 1717441 (1), 20479946 (1), 7543794 (1) (see all 8)
    epidermolysis bullosa junctional 83.3 3 8618019 (1), 9640376 (1), 9767254 (1)
    pemphigoid cicatricial 78.9 7 8752852 (2), 1629629 (1), 9292089 (1), 12746470 (1) (see all 6)
    pemphigus foliaceus 77.8 4 1998370 (2), 8829509 (1)
    pemphigus 77.1 1 1497365 (1)
    herpes gestationis 77 4 8874743 (2), 17875879 (1), 1512460 (1)
    epidermolysis bullosa 75 1 2045679 (1)

    Genetic Association Database (GAD): DST
    Human Genome Epidemiology (HuGE) Navigator: DST (15 documents)

    Export disorders for DST gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DST gene, integrated from 10 sources (see all 281):
    (articles sorted by number of sources associating them with DST)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies. (PubMed id 2461961)1, 2, 3 Stanley J.R.... Roop D. (J. Clin. Invest. 1988)
    2. Cloning and characterization of the neural isoforms of human dystonin. (PubMed id 8575775)1, 2, 9 Brown A.... Kothary R. (Genomics 1995)
    3. Comparison of molecularly cloned bullous pemphigoid antigen to desmoplakin I confirms that they define a new family of cell adhesion junction plaque proteins. (PubMed id 1712022)1, 2, 9 Tanaka T.... Stanley J.R. (J. Biol. Chem. 1991)
    4. Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6. (PubMed id 2276744)1, 3, 9 Sawamura D....Uitto J. (Genomics 1990)
    5. Identification of a second protein product of the gene encoding a human epidermal autoantigen. (PubMed id 8010969)1, 2, 9 Hopkinson S.B. and Jones J.C. (Biochem. J. 1994)
    6. Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains. (PubMed id 1717441)1, 2, 9 Sawamura D.... Uitto J. (J. Biol. Chem. 1991)
    7. Cloning of the 5' mRNA for the 230-kD bullous pemphigoid antigen by rapid amplification of cDNA ends. (PubMed id 8345227)1, 2, 9 Elgart G.W. and Stanley J.R. (J. Invest. Dermatol. 1993)
    8. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. (PubMed id 22522446)1, 2 Edvardson S.... Elpeleg O. (Ann. Neurol. 2012)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin. (PubMed id 19932097)1, 2 Steiner-Champliaud M.F....Borradori L. (Exp. Cell Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 667 HGNC: 1090 AceView: DST.7 Ensembl:ENSG00000151914 euGenes: HUgn667
    ECgene: DST H-InvDB: DST

    (According to HUGE)
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    HUGE: KIAA0728

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DST Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DST Genetics and Cytogenetics in Oncology and Haematology

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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