Property Summary

NCBI Gene PubMed Count 49
PubMed Score 173.62
PubTator Score 20.40

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Expression

  Differential Expression (25)

Disease log2 FC p
malignant mesothelioma -3.100 6.8e-09
astrocytic glioma 1.500 3.2e-02
ependymoma 1.600 2.2e-03
oligodendroglioma 1.900 2.7e-03
glioblastoma -2.700 3.6e-03
osteosarcoma 1.857 4.6e-03
sonic hedgehog group medulloblastoma -3.700 1.4e-07
atypical teratoid / rhabdoid tumor -4.100 5.1e-10
medulloblastoma, large-cell -4.200 7.8e-08
primitive neuroectodermal tumor -2.800 2.8e-04
juvenile dermatomyositis 1.030 1.1e-08
acute quadriplegic myopathy -1.526 1.1e-06
intraductal papillary-mucinous adenoma (... -4.400 1.5e-07
intraductal papillary-mucinous carcinoma... -4.200 2.6e-06
intraductal papillary-mucinous neoplasm ... -4.300 2.9e-05
lung cancer 1.800 2.3e-04
pancreatic cancer -1.500 3.5e-05
pediatric high grade glioma -2.200 1.3e-03
non primary Sjogren syndrome sicca -1.100 1.8e-02
subependymal giant cell astrocytoma -1.588 3.4e-03
Pick disease 1.600 9.3e-05
Breast cancer -1.600 1.7e-03
ovarian cancer -3.700 5.0e-14
Down syndrome 1.200 1.9e-02
dermatomyositis 1.700 3.2e-03

Gene RIF (16)

PMID Text
25959029 we show for the first time localization of alpha-DB2 in nucleoli and Cajal bodies and provide evidence that a-DB2 is involved in the structure of nucleoli and might modulate nucleolar functions
25305078 our findings suggest that novel mutations in FAM136A and DTNA genes are probably causal variants in FMD.
24014171 Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
22507200 apoptosis-induction in HL-60 cells involves not only classical markers of apoptosis but also a network alpha-DB-associated proteins at the cell membrane, the cytoplasm and nucleus, affecting key cellular transport processes and cellular structure.
21115837 Data show that alpha-dystrobrevin-1 recruits alpha-catulin, which supersensitizes alpha(1D)-AR functional responses by recruiting effector molecules to the signalosome.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20111909 Results suggest that alpha-dystrobrevin isoforms play a central role in cytoskeleton reorganization via their multiple interactions with actin and actin-associating proteins.
19961569 Fundamental functional differences between the alpha-dystrobrevins of mice and humans raises questions about the use of the mouse as a model animal for Duchenne muscular dystrophy.
19460752 Knockdown of dystrobrevin, alpha (DTNA) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
18299519 Dystrobrevin mRNA including exons 11A and 12 was increased in both skeletal and cardiac muscle of DM1 patients. The aberrantly spliced alpha-dystrobrevin isoform was localized to the sarcolemma.
15835271 Results confirm that dystrophin is required for anchorage of the syntrophin-dystrobrevin subcomplex and suggest that expression of the syntrophin-dystrobrevin complex may be independently regulated through neuromuscular transmission.
15834686 findings suggest that a-dystrobrevin specifically is associated with the tight junctions during their reorganization
12899872 patients with deficiency of beta2-syntrophin and alpha-dystrobrevin presented with severe congenital weakness and died in the first year, and patients with deficiency of alpha-DNT had congenital muscular dystrophy with complete external ophthalmoplegia.
12604589 Transgenic expression of either isoform of alpha-dystrobrevin prevented muscle fiber degeneration in knockout mice; however, only alphaDB1 corrected defects at neuromuscular and musculotendinous junctions.
12475945 alpha-dystrobrevin and its splice isoforms have a role in signal transduction in myeloid cells during induction of granulocytic differentiation and/or at the commitment stage of differentiation or phagocytic cells
12416719 During a cycle of regeneration in tibialis anterior muscle following myonecrosis, alpha-dystrobrevin reaches 50% of the protein level on day 28 by 6.6 days, regenerating more slowly than dystrophin.

AA Sequence

MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNL      1 - 70
DPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLC     71 - 140
GGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFL    141 - 210
DTLMSDPPPQCLVWLPLLHRLANVENVFHPVECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSH    211 - 280
SNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVDTWPPRPVTSMNDTLF    281 - 350
SHSVPSSGSPFITRSSPPKDSEVEQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNP    351 - 420
SCMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEI    421 - 490
QRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGS    491 - 560
PRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSS    561 - 630
LVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDAD    631 - 700
PYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG                               701 - 743
//

Text Mined References (52)

PMID Year Title
25959029 2015 Localization of ?-Dystrobrevin in Cajal Bodies and Nucleoli: A New Role for ?-Dystrobrevin in the Structure/Stability of the Nucleolus.
25305078 2015 Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.
24014171 2013 Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
22507200 2012 Alpha-Dystrobrevin and its associated proteins in human promyelocytic leukemia cells induced to apoptosis.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21115837 2010 Alpha-dystrobrevin-1 recruits alpha-catulin to the alpha1D-adrenergic receptor/dystrophin-associated protein complex signalosome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20111909 2011 ?-Dystrobrevin distribution and association with other proteins in human promyelocytic NB4 cells treated for granulocytic differentiation.
19961569 2009 Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat.
19931615 2010 MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation.
18468998 2008 Blood pressure is regulated by an alpha1D-adrenergic receptor/dystrophin signalosome.
18299519 2008 Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16177791 2005 DNA sequence and analysis of human chromosome 18.
15835271 2005 The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders.
15834686 2005 Association of alpha-dystrobrevin with reorganizing tight junctions.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15024025 2004 Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14623885 2004 DAMAGE, a novel alpha-dystrobrevin-associated MAGE protein in dystrophin complexes.
12899872 2003 Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.
12604589 2003 Tyrosine-phosphorylated and nonphosphorylated isoforms of alpha-dystrobrevin: roles in skeletal muscle and its neuromuscular and myotendinous junctions.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12475945 2002 Characterization of human alpha-dystrobrevin isoforms in HL-60 human promyelocytic leukemia cells undergoing granulocytic differentiation.
12416719 2002 The expression of alpha-dystrobrevin and dystrophin during skeletal muscle regeneration.
12206805 2002 Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?
12034776 2002 Laminin-1 redistributes postsynaptic proteins and requires rapsyn, tyrosine phosphorylation, and Src and Fyn to stably cluster acetylcholine receptors.
11353857 2001 Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin.
11316798 2001 Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain.
11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
11069112 2000 Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex.
11053421 2001 Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle.
11053293 2000 Dystrobrevin localization in photoreceptor axon terminals and at blood-ocular barrier sites.
10767429 2000 Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex.
10767327 2000 Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy.
10747910 2000 Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells.
10735273 1997 The genomic organization of human dystrobrevin.
10545507 1999 Different dystrophin-like complexes are expressed in neurons and glia.
9701558 1998 Characterisation of alpha-dystrobrevin in muscle.
9533777 1998 From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy.
9419360 1998 beta-dystrobrevin, a member of the dystrophin-related protein family.
9356463 1997 Dystrobrevin and dystrophin: an interaction through coiled-coil motifs.
9215691 1997 Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.
9146999 1997 Muscular dystrophies and the dystrophin-glycoprotein complex.
9119373 1997 Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene.
8845841 1996 Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane.
8631824 1996 Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein.
8576247 1996 The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.
8081380 1994 (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.
7844150 1995 Syntrophin binds to an alternatively spliced exon of dystrophin.