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

DTNA Gene

protein-coding   GIFtS: 63
GCID: GC18P032073

Dystrobrevin, Alpha

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Dystrobrevin, Alpha1 2     LVNC12 5
Dystrophin-Related Protein 31 2 3     DTN2
DRP32 3 5     Dystrobrevin Alpha2
DTN-A2 3     Alpha-dystrobrevin3
D18S892E2 5     

External Ids:    HGNC: 30571   Entrez Gene: 18372   Ensembl: ENSG000001347697   OMIM: 6012395   UniProtKB: Q9Y4J83   

Export aliases for DTNA gene to outside databases

Previous GC identifers: GC18P032206 GC18P031892 GC18P030325 GC18P030327 GC18P028932


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DTNA Gene:
The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a
component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral
and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and
beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of
muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital
heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been
identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for DTNA Gene: 
DTNA (dystrobrevin, alpha) is a protein-coding gene. Diseases associated with DTNA include left ventricular noncompaction, and congenital heart defect. GO annotations related to this gene include zinc ion binding and calcium ion binding. An important paralog of this gene is DYTN.

UniProtKB/Swiss-Prot: DTNA_HUMAN, Q9Y4J8
Function: May be involved in the formation and stability of synapses as well as being involved in the clustering
of nicotinic acetylcholine receptors

Gene Wiki entry for DTNA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010966.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DTNA gene promoter:
         HOXA9   Max1   USF1   STAT5A   AREB6   MEF-2A   PPAR-gamma1   aMEF-2   PPAR-gamma2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): DTNA promoter sequence
   Search SABiosciences Chromatin IP Primers for DTNA

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


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

Entrez Gene cytogenetic band: 18q12   Ensembl cytogenetic band:  18q12.1   HGNC cytogenetic band: 18q12

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

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P032073:  view genomic region     (about GC identifiers)

Start:
32,073,254 bp from pter      End:
32,471,808 bp from pter
Size:
398,555 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DTNA_HUMAN, Q9Y4J8 (See protein sequence)
Recommended Name: Dystrobrevin alpha  
Size: 743 amino acids; 83901 Da
Subunit: Interacts with dystrophin, utrophin and the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2. Isoform 7
and isoform 8 do not interact with dystrophin. Binds dystrobrevin binding protein 1. Interacts with MAGEE1 (By
similarity)
Subcellular location: Cytoplasm. Cell junction, synapse. Cell membrane (By similarity). Note=In peripheral nerves,
co-localizes with MAGEE1 in the Schwann cell membrane (By similarity)
Sequence caution: Sequence=BAD92339.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for DTNA:
2E5R (3D)    
Secondary accessions: A8MSZ0 A8MUY4 B4DGS6 B4DIR0 B4DIU8 M0R397 O15332 O15333 O75697 Q13197
Q13198 Q13199 Q13498 Q13499 Q13500 Q59GK7 Q9BS59
Alternative splicing: 13 isoforms:  Q9Y4J8-1   Q9Y4J8-2   Q9Y4J8-3   Q9Y4J8-4   Q9Y4J8-5   Q9Y4J8-6   Q9Y4J8-7   Q9Y4J8-8   
Q9Y4J8-9   Q9Y4J8-10   Q9Y4J8-11   Q9Y4J8-12   Q9Y4J8-13   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DTNA: NX_Q9Y4J8

Explore proteomics data for DTNA at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y4J8

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

    DTNA Protein Expression
    REFSEQ proteins (17 alternative transcripts): 
    NP_001121647.1  NP_001185867.1  NP_001185868.1  NP_001185869.1  NP_001185870.1  NP_001185871.1  NP_001185872.1  NP_001185873.1  
    NP_001185874.1  NP_001381.2  NP_001382.2  NP_001383.2  NP_116757.2  NP_116760.2  NP_116761.2  NP_116762.2  
    NP_116763.1  

    ENSEMBL proteins: 
     ENSP00000469121   ENSP00000322519   ENSP00000465063   ENSP00000468473   ENSP00000466573  
     ENSP00000466978   ENSP00000470152   ENSP00000464904   ENSP00000451516   ENSP00000382072  
     ENSP00000473078   ENSP00000472031   ENSP00000470716   ENSP00000336682   ENSP00000468631  
     ENSP00000473119   ENSP00000382064   ENSP00000468138   ENSP00000470247   ENSP00000269192  
     ENSP00000467720   ENSP00000471783   ENSP00000452255   ENSP00000470934   ENSP00000468262  
     ENSP00000471143   ENSP00000283365   ENSP00000269190   ENSP00000405819   ENSP00000269191  
     ENSP00000382048  

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

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--
    GO:0030054cell junction IEA--
    GO:0043234protein complex IDA18468998
    GO:0045202synapse IEA--

    DTNA for ontologies           About GeneDecksing



    DTNA Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of DTNA
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    OriGene Antibodies for DTNA
    OriGene Custom Antibody Services for DTNA
    GenScript Custom Superior Antibodies Services for DTNA
    Novus Biologicals DTNA Antibodies
    Abcam antibodies for DTNA
    Browse Antibodies at Cloud-Clone Corp. 
    Search ThermoFisher Antibodies for DTNA
    LSBio Antibodies in human, mouse, rat for DTNA 

    Assay Products for DTNA: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DTNA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DTNA
    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)
    About This Section
    5 InterPro protein domains:
     IPR015154 EF-hand_dom_typ2
     IPR011992 EF-hand-like_dom
     IPR017432 Distrobrevin
     IPR015153 EF-hand_dom_typ1
     IPR000433 Znf_ZZ

    Graphical View of Domain Structure for InterPro Entry Q9Y4J8

    ProtoNet protein and cluster: Q9Y4J8

    1 Blocks protein domain: IPB000433 Zn-finger

    UniProtKB/Swiss-Prot: DTNA_HUMAN, Q9Y4J8
    Domain: The coiled coil domain mediates the interaction with dystrophin and utrophin (By similarity)
    Similarity: Belongs to the dystrophin family. Dystrobrevin subfamily
    Similarity: Contains 1 ZZ-type zinc finger


    DTNA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DTNA_HUMAN, Q9Y4J8
    Function: May be involved in the formation and stability of synapses as well as being involved in the clustering
    of nicotinic acetylcholine receptors

         Genatlas biochemistry entry for DTNA:
    dystrobrevin alpha,87kDa,cytoplasmic,dystrophin related phosphoprotein,found at the Torpedo electric organ
    post-synaptic membrane,involved in the formation and stability of the synapses,component of the dystrophin
    glycoprotein complex,with dystrophin and syntrophins

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI11353857
    GO:0008270zinc ion binding IEA--
         
    DTNA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DTNA:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dtna):
     behavior/neurological  cardiovascular system  growth/size  limbs/digits/tail  mortality/aging 
     muscle  nervous system  skeleton 

    DTNA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dtnatm1Jrs for DTNA

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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DTNA
    8/94 QIAGEN miScript miRNA Assays for microRNAs that regulate DTNA (see all 94):
    hsa-miR-607 hsa-miR-199a-3p hsa-miR-218-1* hsa-miR-128 hsa-miR-3653 hsa-miR-30d hsa-miR-138-2* hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidDTNA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DTNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DTNA

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of DTNA

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for DTNA (see all 69)
    OriGene ORF clones in mouse, rat for DTNA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 17): DTNA (NM_001390)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DTNA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DTNA
    Sirion Biotech Customized lentivirus for stable overexpression of DTNA 
                         Customized lentivirus expression plasmids for stable overexpression of DTNA 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for DTNA
    Search LifeMap BioReagents cell lines for DTNA
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DTNA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DTNA 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 QIAGEN Pathway Central Maps for DTNA
        Muscular Dystrophies and Dystrophin-Glycoprotein Complex


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DTNA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/24 Interacting proteins for DTNA (Q9Y4J82, 3 ENSP000003820644) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DRP2Q134742, 3, ENSP000003786354MINT-15464 I2D: score=3 STRING: ENSP00000378635
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2858186 I2D: score=3 STRING: ENSP00000344782
    UTRNP469392, 3, ENSP000003565154MINT-15467 I2D: score=3 STRING: ENSP00000356515
    DMDP115322, 3, ENSP000003549234MINT-18893 MINT-18892 MINT-15724 I2D: score=5 STRING: ENSP00000354923
    SYNMO150612, 3, ENSP000003367754MINT-18685 MINT-18684 I2D: score=3 STRING: ENSP00000336775
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006941striated muscle contraction TAS10767327
    GO:0007165signal transduction TAS10767327
    GO:0007268synaptic transmission TAS8845841
    GO:0007274neuromuscular synaptic transmission TAS9119373

    DTNA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DTNA

    Search CenterWatch for drugs/clinical trials and news about DTNA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DTNA gene (17 alternative transcripts): 
    NM_001128175.1  NM_001198938.1  NM_001198939.1  NM_001198940.1  NM_001198941.1  NM_001198942.1  NM_001198943.1  NM_001198944.1  
    NM_001198945.1  NM_001390.4  NM_001391.5  NM_001392.4  NM_032975.3  NM_032978.6  NM_032979.4  NM_032980.3  
    NM_032981.4  

    Unigene Cluster for DTNA:

    Dystrobrevin, alpha
    Hs.643454  [show with all ESTs]
    Unigene Representative Sequence: NM_032975
    18/38 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 38):
    ENST00000596745 ENST00000315456(uc002kxu.2 uc002kxx.2) ENST00000588771
    ENST00000588506 ENST00000590412 ENST00000590598 ENST00000591816 ENST00000588125
    ENST00000598334 ENST00000588684 ENST00000554864 ENST00000399121(uc010xbz.2 uc002kye.3 uc010xca.2)
    ENST00000595022 ENST00000598774 ENST00000598142 ENST00000585446 ENST00000348997(uc002kyb.4 uc010dml.3)
    ENST00000588949
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DTNA
    8/94 QIAGEN miScript miRNA Assays for microRNAs that regulate DTNA (see all 94):
    hsa-miR-607 hsa-miR-199a-3p hsa-miR-218-1* hsa-miR-128 hsa-miR-3653 hsa-miR-30d hsa-miR-138-2* hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidDTNA 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DTNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DTNA
    Clone
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    OriGene ORF clones in mouse, rat for DTNA
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    GenScript: all cDNA clones in your preferred vector (see all 17): DTNA (NM_001390)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DTNA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DTNA
    Sirion Biotech Customized lentivirus for stable overexpression of DTNA 
                         Customized lentivirus expression plasmids for stable overexpression of DTNA 
    Primer
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    OriGene qPCR primer pairs and template standards for DTNA
    OriGene qSTAR qPCR primer pairs in human, mouse for DTNA
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DTNA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DTNA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DTNA

    Additional mRNA sequence: 

    AB209102.1 AJ009668.1 AK054766.1 AK291156.1 AK294746.1 AK295732.1 AK295789.1 AK296450.1 
    AK308410.1 AK315215.1 AL833285.1 BC005300.1 BC033969.1 BC047095.1 BT006937.1 FJ535564.1 
    FJ535565.1 U26742.1 U26743.1 U26744.1 U46744.1 U46745.1 U46746.1 

    24/34 DOTS entries (see all 34):

    DT.100789109  DT.95273468  DT.91750352  DT.100789110  DT.95273470  DT.114310  DT.100789104  DT.121092711 
    DT.100789107  DT.121092755  DT.121092665  DT.454850  DT.95221173  DT.97837323  DT.91750361  DT.40281963 
    DT.92065230  DT.416179  DT.121092750  DT.121092684  DT.121092646  DT.121092649  DT.121092668  DT.121092672 

    24/224 AceView cDNA sequences (see all 224):

    AI460309 U26743 AI298906 BX103860 Z44271 Z45779 Z41946 F07278 
    BF941589 NM_032978 AW088873 AA018478 F28376 NM_032980 NM_032979 BF528583 
    CR611269 NM_032981 CR621250 AI148125 AW513384 AI202231 F12543 CA310288 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DTNA (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^
    SP1:                                -                                               -                 -     -                             -     -               
    SP2:                                                                                -                                                                           
    SP3:                                -                                               -                 -     -                                                   
    SP4:                                                                                                  -     -                                                   
    SP5:                                                                                                                                                            

    ExUns: 25 ^ 26a · 26b ^ 27 ^ 28a · 28b · 28c
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for DTNA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    DTNA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             prefrontal cortex   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Pre-Sertoli Cells Testis Cord
             Seminiferous Tubules
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Endoderm (Gastrulation Derivatives)
             Definitive endoderm-like cells ( Generation of mesendoderm and definitive endoderm...
     
     Skeletal Muscle (Muscoskeletal System)
             gastrocnemius   

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

    SOURCE GeneReport for Unigene cluster: Hs.643454

    UniProtKB/Swiss-Prot: DTNA_HUMAN, Q9Y4J8
    Tissue specificity: Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in
    lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only
    expressed in muscle

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DTNA gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dtna1 , 5 dystrobrevin alpha1, 5 89.35(n)1
    95.6(a)1
      18 (12.08 cM)5
    135271  NM_207650.31  NP_997533.11 
     234154155 
    chicken
    (Gallus gallus)
    Aves DTNA1 dystrobrevin, alpha 84.64(n)
    93.36(a)
      421104  XM_419187.3  XP_419187.3 
    lizard
    (Anolis carolinensis)
    Reptilia DTNA6
    dystrobrevin, alpha
    82(a)
    1 ↔ 1
    GL343207.1(2128465-2318396)
    African clawed frog
    (Xenopus laevis)
    Amphibia dtna-A2 dystrobrevin, alpha 79.64(n)    BC046265.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dtna1 dystrobrevin, alpha 68.09(n)
    71.61(a)
      794932  NM_001080581.1  NP_001074050.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dyb6
    Dystrobrevin-like
    35(a)
    1 → many
    2R(8324840-8340421)
    worm
    (Caenorhabditis elegans)
    Secernentea dyb-13 Expression: head, pharyngeal muscle,
    vulval muscle, more
    40(a)   I(1483107-1490322)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DTNA gene
    DYTN2  UTRN2  DTNB2  DMD2  DRP22  
    3 SIMAP similar genes for DTNA using alignment to 18 protein entries:     DTNA_HUMAN (see all proteins):
    DTNB    UTRN    DMD

    DTNA for paralogs           About GeneDecksing



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

    10/7592 SNPs in DTNA are shown (see all 7592)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0267444
    Left ventricular non-compaction 1 (LVNC1)4--see VAR_0267442 P L mis40--------
    rs1048946541,2
    Cpathogenic153568464(+) TGATCC/TGTAAG 24 P L mis10--------
    rs1175715551,2
    C,Fprobable-non-pathogenic153568616(+) AACCTG/AGACCC 24 /L syn13Minor allele frequency- A:0.01NA EU 5993
    rs767138741,2
    C,Funknown153483000(+) CTTCCG/ACTTGG 9 -- int12Minor allele frequency- A:0.01NA EU 1419
    rs1118176031,2
    Cunknown153487327(+) AAGTGG/ACTTTA 9 -- int12Minor allele frequency- A:0.07CSA WA 120
    rs124568601,2
    H--28930337(+) TACTTC/GTGATT 4 -- us2k10--------
    rs1449583221,2
    --28930407(+) ATATAG/TTATTA 4 -- us2k10--------
    rs726394911,2
    C--28930474(+) CCAGTG/ACCTTT 4 -- us2k13Minor allele frequency- A:0.28NA EA 242
    rs124569121,2
    H--28930485(+) GCTTTC/GCCATC 4 -- us2k1 tfbs30--------
    rs752779771,2
    C,F--28930608(+) TTAGCG/AGATCC 4 -- us2k12Minor allele frequency- A:0.10CSA WA 120

    HapMap Linkage Disequilibrium report for DTNA (32073254 - 32323254 bp, first 250kb of DTNA)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for DTNA:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2677908CNV Deletion23128226
    esv2663213CNV Deletion23128226
    esv2672684CNV Deletion23128226
    nsv2251CNV Insertion18451855
    nsv525306CNV Loss19592680
    nsv909536CNV Loss21882294
    nsv131325CNV Loss16902084
    nsv516464CNV Loss19592680


    Human Gene Mutation Database (HGMD): DTNA

    Locus Specific Mutation Databases (LSDB): DTNA
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601239   
    OMIM disorders: 604169  
    UniProtKB/Swiss-Prot: DTNA_HUMAN, Q9Y4J8
  • Left ventricular non-compaction 1 (LVNC1) [MIM:604169]: A disease due to an arrest of myocardial
    morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor
    systolic function, with or without associated left ventricular dilation. In some cases, it is associated with
    other congenital heart anomalies such as ventricular septal defects, pulmonic stenosis and atrial septal defects.
    The right ventricle may also be affected. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 20 diseases for DTNA:    About MalaCards
    left ventricular noncompaction    congenital heart defect    left ventricular noncompaction 1, with or without congenital heart defects    familial isolated noncompaction of left ventricular myocardium
    vestibular nystagmus    sarcoglycanopathies    barth syndrome    dystrophinopathies
    pulmonic stenosis    skeletal muscle regeneration    myotonic dystrophy type 1    muscular dystrophy
    ventricular septal defect    myotonic dystrophy    duchenne muscular dystrophy    pharyngitis
    myopathy    astrocytoma    leukemia    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for DTNA:
    Barth syndrome     Vestibular nystagmus

    DTNA for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for DTNA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophies 72.9 4 18299519 (1), 12206805 (1), 12899872 (1)
    muscular dystrophy duchenne 67.1 2 15835271 (1), 19961569 (1)
    myopathy 44.5 2 12899872 (2)

    Genetic Association Database (GAD): DTNA
    Human Genome Epidemiology (HuGE) Navigator: DTNA (1 document)

    Export disorders for DTNA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DTNA gene, integrated from 9 sources (see all 84):
    (articles sorted by number of sources associating them with DTNA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. (PubMed id 12899872)1, 4, 9 Jones K.J....North K.N. (2003)
    2. Association of alpha-dystrobrevin with reorganizing t ight junctions. (PubMed id 15834686)1, 3, 9 SjAP A....Peterson K.H. (2005)
    3. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (PubMed id 11238270)1, 2, 9 Ichida F.... Towbin J.A. (2001)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. (PubMed id 10747910)1, 2 Piluso G.... Nigro V. (2000)
    7. Characterisation of alpha-dystrobrevin in muscle. (PubMed id 9701558)1, 2 Nawrotzki R.... Blake D.J. (1998)
    8. The genomic organization of human dystrobrevin. (PubMed id 10735273)1, 2 Sadoulet-Puccio H.M.... Kunkel L.M. (1997)
    9. Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post- synaptic membrane. (PubMed id 8845841)1, 2 Sadoulet-Puccio H.M.... Kunkel L.M. (1996)
    10. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. (PubMed id 8576247)1, 2 Ahn A.H.... Kunkel L.M. (1996)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1837 HGNC: 3057 AceView: DTNA Ensembl:ENSG00000134769 euGenes: HUgn1837
    ECgene: DTNA H-InvDB: DTNA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DTNA Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for DTNA Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DTNA

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

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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