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DYTN Gene

protein-coding   GIFtS: 34
GCID: GC02M207516

Dystrotelin

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disease database 

(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
dystrotelin1 2

External Ids:    HGNC: 232791   Entrez Gene: 3914752   Ensembl: ENSG000002321257   UniProtKB: A2CJ063   

Export aliases for DYTN gene to outside databases

Previous GC identifers: GC02M207260 GC02M199365


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DYTN Gene:
DYTN (dystrotelin) is a protein-coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DTNA.


(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_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the DYTN gene promoter:
         Tal-1   FOXD3   Tal-1beta   Gfi-1   E47   HFH-1   FOXJ2 (long isoform)   FOXJ2   ITF-2   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DYTN

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


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

Entrez Gene cytogenetic band: 2q33.3   Ensembl cytogenetic band:  2q33.3   HGNC cytogenetic band: 2q33.3

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M207516:  view genomic region     (about GC identifiers)

Start:
207,516,345 bp from pter      End:
207,583,120 bp from pter
Size:
66,776 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DYTN_HUMAN, A2CJ06 (See protein sequence)
Recommended Name: Dystrotelin  
Size: 578 amino acids; 65320 Da

Explore the universe of human proteins at neXtProt for DYTN: NX_A2CJ06

Explore proteomics data for DYTN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_001087199.1  
    ENSEMBL proteins: 
     ENSP00000396593  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR015154 EF-hand_dom_typ2
     IPR011992 EF-hand-dom_pair
     IPR015153 EF-hand_dom_typ1
     IPR000433 Znf_ZZ

    Graphical View of Domain Structure for InterPro Entry A2CJ06

    ProtoNet protein and cluster: A2CJ06

    UniProtKB/Swiss-Prot: DYTN_HUMAN, A2CJ06
    Similarity: Contains 1 ZZ-type zinc finger


    Find genes that share domains with DYTN           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with DYTN           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DYTN:
     Decreased Wnt reporter activit 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DYTN

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    (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
    DYTN_HUMAN, A2CJ06: Cell membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    plasma membrane2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with DYTN           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DYTN
    Interactions:

        Search GeneGlobe Interaction Network for DYTN

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for DYTN (ENSP000003965934) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DPP3ENSP000003537014STRING: ENSP00000353701
    About this table

    (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 DYTN



    (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 DYTN gene: 
    NM_001093730.1  

    Unigene Cluster for DYTN:

    Dystrotelin
    Hs.640667  [show with all ESTs]
    Unigene Representative Sequence: DQ516347
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000452335(uc002vbr.1) ENST00000477734
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    Additional mRNA sequence: DQ516347.1 

    1 DOTS entry:

    DT.120991706 

    GeneLoc Exon Structure


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

    DYTN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DYTN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.640667
        Custom PCR Arrays for DYTN
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    In Situ
    Assay Products:
     

     
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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 DYTN gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dytn1 , 5 dystrotelin1, 5 73.66(n)1
    60.66(a)1
      1 (32.31 cM)5
    2410731  NM_001081658.11  NP_001075127.11 
     636228515 
    chicken
    (Gallus gallus)
    Aves DYTN1 dystrotelin 58.9(n)
    46.61(a)
      429012  XM_004942653.1  XP_004942710.1 
    lizard
    (Anolis carolinensis)
    Reptilia DYTN6
    dystrotelin
    30(a)
    1 ↔ 1
    GL343208.1(389247-403614)
    zebrafish
    (Danio rerio)
    Actinopterygii dytn6
    dystrotelin
    26(a)
    1 ↔ 1
    6(13027068-13043892) ENSDARG00000071025
    fruit fly
    (Drosophila melanogaster)
    Insecta Dys6
    Dystrophin
    4(a)
    many ↔ many
    3R(15286810-15421117)
    worm
    (Caenorhabditis elegans)
    Secernentea dys-16
    Protein DYS-1, isoform a (dys-1) mRNA, complete cd...
    3(a)
    many ↔ many
    I(11526918-11557792) WBGene00001131


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DYTN gene
    DTNA2  UTRN2  DTNB2  DMD2  DRP22  

    Find genes that share paralogs with DYTN           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 DYTN (see all 1603)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs718523821,2
    C--199431239(+) ACACA-/AC/ACACA
    CACACAC
    /CA
    AAACA
    2 -- int1 cds10--------
    rs105534411,2
    C--206913280(+) AGTCt-/CT/C  
      TTTTTT
    ttttt
    1 -- int11NA 2
    rs105313481,2
    C--206937455(+) ttttcTTTTTT/-
            
    ttttt
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs1918410611,2
    --207515887(+) TTTAGC/TGACAA 1 -- ds50010--------
    rs1825071001,2
    --207515938(+) CATATA/GCAGTT 1 -- ds50010--------
    rs773685021,2
    C--207515989(+) GTTTCC/ACCAAT 1 -- ds50014Minor allele frequency- A:0.10NA WA EA 360
    rs1868339721,2
    C--207516094(+) ACTCAA/G/TTTGTG 1 -- ds50010--------
    rs1463772681,2
    C--207516095(+) TCAAT-/TGTGTGTG/TGTGTG
    TGTG
    /TGTGTGTGTGTG
    TGTGT
    2 -- ds5001 cds10--------
    rs714108901,2
    C--207516106(+) TGTGT-/GTGTGTGTGTGT/TGTG
    TGTGTG
    /TGTGTGTGTGTG
    GTGTG
    3 -- ds5001 cds11NA 2
    rs67354661,2
    C--207516107(+) tgtgtA/Gtgtgt 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for DYTN (207516345 - 207583120 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DYTN:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv875739CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with DYTN           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: DYTN (1 document)

    Export disorders for DYTN 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 article for DYTN gene integrated from 10 sources:
    (articles sorted by number of sources associating them with DYTN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms. (PubMed id 17233888)1, 2, 3 Jin H.... Roberts R.G. (BMC Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 391475 HGNC: 23279 Ensembl:ENSG00000232125 euGenes: HUgn391475 ECgene: DYTN
    H-InvDB: DYTN

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DYTN Pharmacogenomics, SNPs, Pathways

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

    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, eBioscience, antibodies-online, 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
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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