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

DTNA Gene

protein-coding   GIFtS: 61
GCID: GC18P032073

dystrobrevin, alpha
 Explore 22 diseases affiliated with
DTNA via
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 Human Malady Compendium 
Biological research products
for DTNA    

Aliases
for DTNA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dystrobrevin, Alpha1 2     LVNC12 5
DRP31 2 3 5     DTN-11
D18S892E1 2 5     DTN-21
DTN1 2     DTN-31
Dystrophin-Related Protein 32 3     Dystrobrevin Alpha2
DTN-A2 3     Alpha-Dystrobrevin1

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


Summaries
for DTNA gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010966.14  
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

Proteins
for DTNA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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)
1 PDB 3D structure from and Proteopedia for DTNA:
2E5R (3D)    
Secondary accessions: A8MSZ0 A8MUY4 B4DIR0 B4DIU8 O15332 O15333 O75697 Q13197 Q13198 Q13199 Q13498
Q13499 Q13500 Q9BS59
Alternative splicing: 11 isoforms:  Q9Y4J8-1   Q9Y4J8-2   Q9Y4J8-3   Q9Y4J8-4   Q9Y4J8-5   Q9Y4J8-6   Q9Y4J8-7   Q9Y4J8-8   
Q9Y4J8-9   Q9Y4J8-10   Q9Y4J8-11   

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

Post-translational modifications:

  • Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y4J8

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

    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: 
     ENSP00000322519   ENSP00000465063   ENSP00000468473   ENSP00000466573   ENSP00000466978  
     ENSP00000464904   ENSP00000451516   ENSP00000382072   ENSP00000336682   ENSP00000468631  
     ENSP00000382064   ENSP00000468138   ENSP00000269192   ENSP00000467720   ENSP00000452255  
     ENSP00000468262   ENSP00000283365   ENSP00000269190   ENSP00000405819   ENSP00000269191  
     ENSP00000382048  

    Human Recombinant Protein Products: 
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    OriGene Purified Proteins (see all 2): DTNA
    OriGene Protein Over-expression Lysate (see all 7): DTNA
    OriGene Custom Protein Services for DTNA 
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    Novus Biologicals DTNA Protein
    Novus Biologicals DTNA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005792microsome ----
    GO:0005886plasma membrane IEA--
    GO:0030054cell junction IEA--
    GO:0043234protein complex IDA18468998


    DTNA for ontologies           About GeneDecksing



    DTNA Antibody Products: 
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    Novus Biologicals DTNA Antibodies
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    Browse Antibodies at Uscn
    Search ThermoFisher Antibodies for DTNA

    Assay Products for DTNA: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DTNA
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for DTNA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DTNA for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: 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


    Function
    for DTNA gene

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

         UniProtKB/Swiss-Prot: 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

    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 plasmid: DTNA 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DTNA (see all 4)
    OriGene shRNA RFP: DTNA
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DTNA

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DTNA (see all 19)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DTNA (see all 9)
    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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DTNA 

    Cell Line
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    Search LifeMap BioReagents cell lines for DTNA

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DTNA

    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 IPI19931615
    GO:0008270zinc ion binding IEA--


    DTNA for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Dtnatm1Jrs for DTNA
         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


    Pathways & Interactions
    for DTNA gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    		Muscular Dystrophies and Dystrophin-Glycoprotein Complex1.00

    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



    Drugs & Compounds
    for DTNA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    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 

    Transcripts
    for DTNA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
    18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000315456(uc002kxu.2 uc002kxx.2) ENST00000588771 ENST00000588506
    ENST00000590412 ENST00000590598 ENST00000591816 ENST00000588125 ENST00000588684
    ENST00000554864 ENST00000399121(uc010xbz.2 uc002kye.3 uc010xca.2)
    ENST00000585446 ENST00000348997(uc002kyb.4 uc010dml.3) ENST00000588949
    ENST00000399113(uc021uir.1) ENST00000592114 ENST00000590727 ENST00000269192
    ENST00000591182

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: DTNA 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DTNA (see all 4)
    OriGene shRNA RFP: DTNA
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DTNA
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DTNA (see all 19)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DTNA (see all 9)
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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 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DTNA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DTNA

    Additional cDNA 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.91750352  DT.95273468  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):

    AW296224 CA391188 U26743 AI460309 H67108 BF941589 Z41946 AL833285 
    BT006937 BX431012 N51112 BX953790 F01463 CA310288 NM_032981 NM_032980 
    AW513384 BF528583 AW088873 BM706079 NM_001391 NM_001390 BC005300 BF328924 

    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

    Expression
    for DTNA gene

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

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

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

    DTNA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    SomiteLumbar Vertebral BodySomite
    TestisSeminiferous TubulesTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)

    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
    for DTNA gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for DTNA gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 90(a)
    		 1 ↔ 1
    		 GL343207.1(2128495-2230452)
    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
    		 34(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
    for DTNA gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DTNA gene
    UTRN2  DYTN2  DTNB2  DMD2  DRP22  
    3 SIMAP similar genes for DTNA using alignment to 20 protein entries:     DTNA_HUMAN (see all proteins):
    DTNB    UTRN    DMD

    DTNA for paralogs           About GeneDecksing



    Genomic Variants
    for DTNA gene

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

    10/6524 NCBI SNPs in DTNA are shown (see all 6524)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048946541,2
    		Cpathogenic53568464(+) TGATCC/TGTAAG 24 P L mis10--------
    rs1175715551,2
    		C,F,probable-non-pathogenic53568616(+) AACCTG/AGACCC 24 /L syn13Minor allele frequency- A:0.01NA EU 5993
    rs767138741,2
    		C,F,unknown53483000(+) CTTCCG/ACTTGG 9 -- int12Minor allele frequency- A:0.01NA EU 1419
    rs1118176031,2
    		C,unknown53487327(+) AAGTGG/ACTTTA 9 -- int12Minor allele frequency- A:0.07CSA WA 120
    rs124568601,2
    		H--28930337(+) TACTTC/GTGATT 4 -- us2k10--------
    rs124569121,2
    		H--28930485(+) GCTTTC/GCCATC 4 -- us2k1 tfbs30--------
    rs752779771,2
    		--28930608(+) TTAGCG/AGATCC 4 -- us2k12Minor allele frequency- A:0.10CSA WA 120
    rs739493221,2
    		C,--28931789(+) NNNNGT/CTATCT 4 -- us2k12Minor allele frequency- C:0.30WA 120
    rs105695621,2
    		C--28932165(+) AAGGATT/-TTTTT 4 -- us2k11Minor allele frequency- -:0.50NA 2
    rs1121938311,2
    		C,--28932612(+) TGGAGG/AGGGTC 4 -- int13Minor allele frequency- A:0.04NA WA 240

    HapMap Linkage Disequilibrium report for DTNA (32073254 - 32323254 bp, first 250kb of DTNA)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for DTNA
         2 CNVs: 39215 49974
         1 Indel: 11942
    Human Gene Mutation Database (HGMD): DTNA

    Locus Specific Mutation Databases (LSDB): DTNA

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    Disorders / Diseases
    for DTNA gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DTNA for disorders           About GeneDecksing

    OMIM gene information: 601239   
    OMIM disorders: 604169  
    UniProtKB/Swiss-Prot: DTNA_HUMAN, Q9Y4J8
  • Defects in DTNA are the cause of left ventricular non-compaction type 1 (LVNC1) [MIM:604169]. Left ventricular
    • non-compaction is due to an arrest of myocardial morphogenesis. The disorder 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

    20/22 diseases for DTNA (see all 22):    About MalaCards
    left ventricular noncompaction    left ventricular noncompaction with congenital heart defects    congenital heart defect    left ventricular noncompaction 1, with or without congenital heart defects
    muscular dystrophy    skeletal muscle regeneration    myotonic dystrophy type 1    vestibular nystagmus
    pulmonic stenosis    duchenne muscular dystrophy    myotonic dystrophy    sarcoglycanopathies
    barth syndrome    dystrophinopathies    nystagmus    myopathy
    pharyngitis    cardiomyopathy    astrocytoma    ataxia

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

    3 Novoseek 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

    Publications
    for DTNA gene

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

    PubMed articles for 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. (PubMed id 10747910)1, 2 Piluso G.... Nigro V. (2000)
    6. Characterisation of alpha-dystrobrevin in muscle. (PubMed id 9701558)1, 2 Nawrotzki R.... Blake D.J. (1998)
    7. The genomic organization of human dystrobrevin. (PubMed id 10735273)1, 2 Sadoulet-Puccio H.M.... Kunkel L.M. (1997)
    8. 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)
    9. 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)
    10. Syntrophin binds to an alternatively spliced exon of dystrophin. (PubMed id 7844150)1, 2 Ahn A.H. and Kunkel L.M. (1995)

    External Searches for DTNA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DTNA gene

    (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

    Other Databases showing DTNA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DTNA gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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

    Intellectual Property
    for DTNA gene

    (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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