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FLASH GENE
Symbol DTNB contributors: mct/npt - updated : 12-07-2008
HGNC name dystrobrevin, beta
HGNC id 3058
Location 2p23-p22      Physical location : 25.600.113 - 25.896.503
Synonym name weakly similar to utrophin
Synonym symbol(s) DBVB, MGC17163 , MGC57126
DNA
TYPE functioning gene
STRUCTURE 296.00 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC375189 2p24.1 hypothetical protein LOC375189 LOC388932 2 similar to FLJ30851 protein LOC388933 2 LOC388933 ITSN2 2pter-p25.1 intersectin 2 PRO2015 2p24.1 hypothetical protein PRO2015 NCOA1 2p23 nuclear receptor coactivator 1 LOC391356 2 similar to ENSANGP00000018456 MGC11266 2p24.1 hypothetical protein MGC11266 ADCY3 2p23 adenylate cyclase 3 LOC51277 LOC388934 2 LOC388934 LOC388935 2 LOC388935 KIAA0953 2p24.1 LOC388935 POMC 2p23.3 proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin) DNMT3A 2p23 DNA (cytosine-5-)-methyltransferase 3 alpha DTNB 2p23-p22 dystrobrevin, beta ASXL2 2p24.1 additional sex combs like 2 (Drosophila) KIF3C 2p23 kinesin family member 3C LOC391357 2 similar to Ubiquinol-cytochrome C reductase complex 11 kDa protein, mitochondrial precursor (Mitochondrial hinge protein) (Cytochrome C1, nonheme 11 kDa protein) (Complex III subunit VIII) LOC391358 2 similar to hypothetical protein HSPC152 RAB10 2p24.1 RAB10, member RAS oncogene family LOC391359 2 similar to Epithelial membrane protein-2 (EMP-2) (XMP protein) LOC130482 2p24.1 similar to SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1; mammalian chromatin remodeling complex BRG1-associated factor 57 PPIL1P1 2p23.3 peptidylprolyl isomerase (cyclophilin)-like 1 pseudogene 1 LOC150946 2p24.1 hypothetical protein LOC150946 HADHA 2p23 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit HADHB 2p23 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit GPR113 2p24.1 G protein-coupled receptor 113 KIAA1724 2p24.1 selenoprotein I, 1 MGC16372 2p24.1 CG10958-like OTOF 2p23-p22 otoferlin
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 2410 71.3 627 - Puca, Macioce (2003)
- - 2670 - 558 - Puca, Macioce (2003)
- - 2230 - 567 - Puca, Macioce (2003)
- - 2315 - 560 - Macioce (2003)
- - 2433 - 609 - Macioce (2003)
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbraindiencephalonhypothalamus  
 brainforebraincerebral cortex  
Reproductivefemale systemuteruscervix highly
Respiratoryrespiratory tractlarynx  highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a zinc finger ZZ type
  • HOMOLOGY
    intraspecies paralog to DTNA,significantly
    homolog to dystrophin
    Homologene
    FAMILY
  • dystrophin associated complex family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • involved in the formation and stability of synapses
  • may play an important role in intracellular signal transduction, in addition to providing a membrane scaffold in muscle
  • having a function as a motor protein receptor that might play a major role in the transport of components of the dystrophin-associated protein complex to specific sites in the cell
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission , signal transduction
    a component
  • copurifying with DP71 and DP140 dystrophins
  • component of the dystrophin glycoprotein complex with dystrophin, syntrophins DNTB1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bind directly to dystrophin and are components of a transmembrane dystrophin-glycoprotein complex (DGC) that links the cytoskeleton to extracellular proteins in many tissues
  • binds to RE-1 and represses the promoter activity of synapsin I, a REST-responsive gene that is a marker for neuronal differentiation
  • direct interaction witht HMG20A and HMG20B, suggesting that DTNB may be involved in regulating chromatin dynamics, possibly playing a role in neuronal differentiation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • synaptic and behavioral abnormalities are minimal in mice lacking either Dtna or Dtnb