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DTNB Gene

protein-coding   GIFtS: 60
GCID: GC02M025600

Dystrobrevin, Beta

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dystrobrevin, Beta1 2
DTN-B2 3
beta-dystrobrevin2
Dystrobrevin Beta2
Beta-dystrobrevin3

External Ids:    HGNC: 30581   Entrez Gene: 18382   Ensembl: ENSG000001381017   OMIM: 6024155   UniProtKB: O609413   

Export aliases for DTNB gene to outside databases

Previous GC identifers: GC02M025521 GC02M025692 GC02M025557 GC02M025574 GC02M025511 GC02M025453 GC02M025337


(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 DTNB Gene:
This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC
consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans,
sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption
is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin
and the DP71 short form of dystrophin. Alternatively spliced transcript variants encoding different isoforms have
been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for DTNB Gene:
DTNB (dystrobrevin, beta) is a protein-coding gene. Diseases associated with DTNB include left ventricular noncompaction, and muscular dystrophy. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DTNA.

Gene Wiki entry for DTNB 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:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DTNB gene promoter:
         C/EBPbeta   FOXD1   GATA-1   Roaz   Egr-2   RORalpha1   CREB   ZID   Pax-4a   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDTNB promoter sequence
   Search Chromatin IP Primers for DTNB

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


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

Entrez Gene cytogenetic band: 2p24   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.2

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M025600:  view genomic region     (about GC identifiers)

Start:
25,600,067 bp from pter      End:
25,896,503 bp from pter
Size:
296,437 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: DTNB_HUMAN, O60941 (See protein sequence)
Recommended Name: Dystrobrevin beta  
Size: 627 amino acids; 71356 Da
Subunit: Interacts with dystrophin short form DP71 and syntrophins SNTG1 and SNTG2. Binds dystrobrevin binding
protein 1 (By similarity)
Secondary accessions: B7Z733 F5GZG4 G5E9F6 O43782 O60881 O75538 Q86VR4 Q96AW0 Q9UE14 Q9UE15
Q9UE16
Alternative splicing: 7 isoforms:  O60941-1   O60941-2   O60941-3   O60941-4   O60941-5   O60941-6   O60941-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DTNB: NX_O60941

Explore proteomics data for DTNB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (8 alternative transcripts): 
    NP_001243232.1  NP_001243233.1  NP_001243237.1  NP_068707.1  NP_149159.2  NP_149160.1  NP_899204.1  NP_899205.1  

    ENSEMBL proteins: 
     ENSP00000381924   ENSP00000384084   ENSP00000385482   ENSP00000385193   ENSP00000384767  
     ENSP00000384787   ENSP00000385784   ENSP00000349007   ENSP00000306529   ENSP00000340957  
     ENSP00000288642   ENSP00000444463   ENSP00000444961  

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

    DTNB Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for DTNB
    OriGene Custom Antibody Services for DTNB
    Novus Biologicals DTNB Antibodies
    Abcam antibodies for DTNB
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for DTNB
    LSBio Antibodies in human, mouse, rat for DTNB

    DTNB Assay Products:

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR015154 EF-hand_dom_typ2
     IPR011992 EF-hand-dom_pair
     IPR017432 Distrobrevin
     IPR015153 EF-hand_dom_typ1
     IPR000433 Znf_ZZ

    Graphical View of Domain Structure for InterPro Entry O60941

    ProtoNet protein and cluster: O60941

    1 Blocks protein domain: IPB000433 Zn-finger

    UniProtKB/Swiss-Prot: DTNB_HUMAN, O60941
    Domain: The coiled coil domain may mediate the interaction with dystrophin
    Similarity: Belongs to the dystrophin family. Dystrobrevin subfamily
    Similarity: Contains 1 ZZ-type zinc finger


    DTNB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for DTNB:
    dystrobrevin beta,71kDa,dystrophin related,copurifying with DP71 and DP140 dystrophins,significantly homologous to
    DBVA,expressed in brain and other tissues but not in muscle

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    DTNB for ontologies           About GeneDecksing


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

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dtnb):
     behavior/neurological  nervous system  normal 

    DTNB for phenotypes           About GeneDecksing

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target DTNB:
    hsa-mir-26b-5p (MIRT029905), hsa-let-7e-5p (MIRT051460)

    Block miRNA regulation of human, mouse, rat DTNB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DTNB (see all 10):
    hsa-miR-596 hsa-miR-3934 hsa-miR-4271 hsa-miR-330-5p hsa-miR-637 hsa-miR-143 hsa-miR-625 hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidDTNB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DTNB
    Predesigned siRNA for gene silencing in human, mouse, rat DTNB

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

    Clone
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    OriGene clones in human, mouse for DTNB (see all 30)
    OriGene ORF clones in mouse, rat for DTNB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): DTNB (NM_183360)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DTNB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DTNB

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DTNB


    (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
    DTNB_HUMAN, O60941: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane2
    cytoskeleton1
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0045202synapse IEA--

    DTNB for ontologies           About GeneDecksing


    (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 DTNB About    
    See pathways by source

    SuperPathContained pathways About
    1Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    Muscular Dystrophies and Dystrophin-Glycoprotein Complex

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for DTNB
        Muscular Dystrophies and Dystrophin-Glycoprotein Complex


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DTNB
    Interactions:

        GeneGlobe Interaction Network for DTNB

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

    Selected Interacting proteins for DTNB (O609412, 3 ENSP000003840844) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UTRNP469392, 3, ENSP000003565154MINT-14734 I2D: score=2 STRING: ENSP00000356515
    DMDP115322, 3, ENSP000003549234MINT-15832 MINT-16058 MINT-15880 I2D: score=5 STRING: ENSP00000354923
    DTNBP1Q96EV83, ENSP000003416804I2D: score=4 STRING: ENSP00000341680
    CCDC85BQ158343, ENSP000003116954I2D: score=3 STRING: ENSP00000311695
    HMG20AQ9NP663, ENSP000003368564I2D: score=3 STRING: ENSP00000336856
    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 DTNB

    1 Novoseek inferred chemical compound relationship for DTNB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dapc 94.3 1 15149856 (1)



    DTNB for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DTNB gene (8 alternative transcripts): 
    NM_001256303.1  NM_001256304.1  NM_001256308.1  NM_021907.4  NM_033147.3  NM_033148.3  NM_183360.2  NM_183361.2  

    Unigene Cluster for DTNB:

    Dystrobrevin, beta
    Hs.307720  [show with all ESTs]
    Unigene Representative Sequence: Y15718
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 31):
    ENST00000398951 ENST00000406818(uc002rgg.3 uc002rgh.3 uc002rgq.3 uc010ykp.2)
    ENST00000404103(uc002rgj.3) ENST00000407661(uc002rgi.3 uc002rgn.3)
    ENST00000407038(uc002rgk.3) ENST00000405222(uc002rgl.3) ENST00000497476
    ENST00000407186 ENST00000356599 ENST00000488457 ENST00000489949(uc002rgp.1)
    ENST00000479898 ENST00000498437 ENST00000482145 ENST00000481841 ENST00000485845(uc002rgr.1)
    ENST00000486555 ENST00000489756
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DTNB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DTNB (see all 10):
    hsa-miR-596 hsa-miR-3934 hsa-miR-4271 hsa-miR-330-5p hsa-miR-637 hsa-miR-143 hsa-miR-625 hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidDTNB 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DTNB
    Predesigned siRNA for gene silencing in human, mouse, rat DTNB
    Clone
    Products:
         
    OriGene clones in human, mouse for DTNB (see all 30)
    OriGene ORF clones in mouse, rat for DTNB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): DTNB (NM_183360)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DTNB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DTNB
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DTNB
    OriGene qSTAR qPCR primer pairs in human, mouse for DTNB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DTNB
      QuantiTect SYBR Green Assays in human, mouse, rat DTNB
      QuantiFast Probe-based Assays in human, mouse, rat DTNB

    Additional mRNA sequence: 

    AF022728.1 AF070567.1 AK094494.1 AK225724.1 AK294174.1 AK294357.1 AK300019.1 AK301386.1 
    BC016655.1 BC049366.1 BT009805.1 DQ160290.1 Y12712.1 Y15718.1 Y15722.1 

    22 DOTS entries:

    DT.98131951  DT.445997  DT.95290932  DT.100786418  DT.100786423  DT.100786419  DT.97860344  DT.100786422 
    DT.100786424  DT.100786420  DT.40281583  DT.75144417  DT.91765529  DT.97827920  DT.121004985  DT.121005002 
    DT.121005032  DT.91820627  DT.91875469  DT.91913961  DT.95068812  DT.91725229 

    Selected AceView cDNA sequences (see all 150):

    BG575054 BU855600 NM_021907 CB150959 CA487387 NM_033147 NM_183361 AF070567 
    BU846095 Y15722 BT009805 BQ651659 CR619470 BM784399 BQ723587 AU121809 
    BQ773670 BU552918 NM_183360 CF593410 AW204398 Y15719 CR622461 BE552374 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DTNB (see all 10)    About this scheme

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

    ExUns: 19b ^ 20 ^ 21a · 21b ^ 22
    SP1:        -           -         
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for DTNB

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

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

    DTNB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.307720

    UniProtKB/Swiss-Prot: DTNB_HUMAN, O60941
    Tissue specificity: Highly expressed in brain, kidney and pancreas

        Custom PCR Arrays for DTNB
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DTNB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DTNB
    QuantiTect SYBR Green Assays in human, mouse, rat DTNB
    QuantiFast Probe-based Assays in human, mouse, rat DTNB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DTNB

    (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 DTNB gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dtnb1 , 5 dystrobrevin, beta1, 5 91.57(n)1
    95.84(a)1
      12 (1.88 cM)5
    135281  NM_001162465.11  NP_001155937.11 
     35723815 
    chicken
    (Gallus gallus)
    Aves DTNB1 dystrobrevin, beta 82.26(n)
    92.28(a)
      421992  XM_004935823.1  XP_004935880.1 
    lizard
    (Anolis carolinensis)
    Reptilia DTNB6
    dystrobrevin, beta
    79(a)
    1 ↔ 1
    GL343715.1(1500-161739)
    zebrafish
    (Danio rerio)
    Actinopterygii dtnb2 dystrobrevin, beta 75.77(n)   325242  AY423026.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dyb1 Dystrobrevin-like 55.82(n)
    53.06(a)
      36362  NM_165905.3  NP_725172.2 
    worm
    (Caenorhabditis elegans)
    Secernentea dyb-11 , 3 Expression: head, pharyngeal muscle,
    vulval muscle, more3
    dyb-11
    42(a)3
    52.79(n)1
    50.38(a)1
      I(1483107-1490322)3
    1717151  NM_058459.51  NP_490860.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DTNB gene
    DTNA2  DYTN2  UTRN2  DMD2  DRP22  
    2 SIMAP similar genes for DTNB using alignment to 13 protein entries:     DTNB_HUMAN (see all proteins):
    DTNA    DMD

    DTNB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), 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 DTNB (see all 5200)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs588719091,2
    C--25463315(+) AAAAA-/AA/A  
      AAAAAA
    GTCCA
    8 -- int11NA 2
    rs739206961,2
    C,F--25599627(+) TGCTAA/CAAATA 8 -- ds50012Minor allele frequency- C:0.03WA 120
    rs1889464041,2
    --25599639(+) CATCCC/TGGAGC 8 -- ds50010--------
    rs1176406541,2
    C,F--25599699(+) CACGTG/ATGCCC 8 -- ds50011Minor allele frequency- A:0.03EA 120
    rs1494688371,2
    --25599747(+) GCGCCC/GCCGGC 8 -- ds50010--------
    rs1824830171,2
    --25599826(+) CCCGGA/CTGCGG 8 -- ds50010--------
    rs1871174151,2
    C--25599838(+) GCGCGG/TCTGGG 8 -- ds50010--------
    rs18656921,2
    C--25599839(+) CGCGGC/TTGGGT 8 -- ds50011Minor allele frequency- T:0.00NA 2
    rs1896114991,2
    --25599915(+) GTGAGA/GCTATT 8 -- ds50010--------
    rs1808380371,2
    --25600092(+) CATCAC/GGTCAC 8 -- ds5001 ut310--------

    HapMap Linkage Disequilibrium report for DTNB (25600067 - 25850067 bp, first 250kb of DTNB)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DTNB (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4217CNV Deletion18987735
    esv2719823CNV Deletion23290073
    esv2675591CNV Deletion23128226
    esv2719824CNV Deletion23290073
    esv2671046CNV Deletion23128226
    nsv512768CNV Insertion21212237
    nsv873743CNV Loss21882294
    esv33372CNV Loss17666407
    esv25482CNV Loss19812545
    esv33316CNV Loss17666407

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

    (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: 602415    OMIM disorders: --

    11 diseases for DTNB:    
    About MalaCards
    left ventricular noncompaction    muscular dystrophy    hermansky-pudlak syndrome    congenital heart defect
    duchenne muscular dystrophy    pharyngitis    schizophrenia    coronary heart disease
    myeloma    multiple myeloma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for DTNB:
    Duchenne muscular dystrophy

    DTNB for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for DTNB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 30 1 15124027 (1)

    Genetic Association Database (GAD): DTNB

    Export disorders for DTNB 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 DTNB gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with DTNB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. (PubMed id 9395493)1, 2, 9 Peters M.F.... Froehner S.C. (J. Biol. Chem. 1997)
    2. beta-dystrobrevin, a member of the dystrophin-related protein family. (PubMed id 9419360)1, 3, 9 Blake D.J....Davies K.E. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Identification and characterization of a novel member of the dystrobrevin gene family. (PubMed id 9540997)1, 2, 9 Puca A.A.... Franco B. (FEBS Lett. 1998)
    4. Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. (PubMed id 22120009)1, 4 Broderick P....Houlston R.S. (Nat. Genet. 2012)
    5. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)1, 4 Lettre G....Boerwinkle E. (PLoS Genet. 2011)
    6. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    9. Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. (PubMed id 10747910)1, 2 Piluso G.... Nigro V. (J. Biol. Chem. 2000)
    10. The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. (PubMed id 23502783)1 Weinhold N....Hemminki K. (Nat. Genet. 2013)

    (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: 1838 HGNC: 3058 AceView: DTNB Ensembl:ENSG00000138101 euGenes: HUgn1838
    ECgene: DTNB H-InvDB: DTNB

    (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 DTNB Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for DTNB Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.

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

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



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