Description
External Links
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Expression
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Biological Properties

Transcriptome  -  SMDBT004766  ( DMD )

Description

  • IDSMDBT004766
  • Gene SymbolDMD
  • Namedystrophin
  • OrganismHomo sapiens (Human)
  • Gene SynonymsBMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
  • ChromosomeGRCh38 chrX:31119222-32412228; hg19 chrX:31137339-33357505
  • Gene Sequence
    CTGAGAAAGACAGATTGCAATGACTGAGATGATTTTGCTAATTTTTTTTCCAGCCTATTTCCTTAATGTACGTGATATTGTGATTGATTTTCATGCAGAGATCCCTGATCCTATAGTTTTGTTTGCTATTTATTTTTCTCCTTCACATTTTTTTTCTATCAACAGAGCTGAATGAGTGCCAGGAAGCTGC  Show more... 

Expression

  • Expression in
    Tissues and Cells
    Export
    Organism part Protocol Normalization Expression Raw Data Provider
    14.09864
    10.49888
    6.01118
    2.28043
    3.45060
    2.13930
    7.72196
    5.13740
    12.62559
    10.00925
    10.13404
    11.70129
    0.00000
    44.58071
    8.25875
    5.00752
    3.20323
    4.48928
    6.06624
    • Organism part Protocol Number of cells Article GEO
    Organism part Protocol Number of cells Article GEO
    Organism part Protocol Number of cells Article GEO
    Organism part Protocol Number of cells Article GEO
    Description

Biological Properties

  • General FunctionAnchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. {ECO:0000250|UniProtKB:P11531, ECO:0000269|PubMed:16710609}.
  • GO – Biological Processactin cytoskeleton organization [GO:0030036]; cardiac muscle cell action potential [GO:0086001]; cardiac muscle contraction [GO:0060048]; cellular protein-containing complex assembly [GO:0034622]; cellular protein localization [GO:0034613]; maintenance of blood-brain barrier [GO:0035633]; motile cilium assembly [GO:0044458]; muscle cell cellular homeostasis [GO:0046716]; muscle cell development [GO:0055001]; muscle organ development [GO:0007517]; negative regulation of peptidyl-cysteine S-nitrosylation [GO:1902083]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; neuron development [GO:0048666]; peptide biosynthetic process [GO:0043043]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of neuron projection development [GO:0010976]; positive regulation of sodium ion transmembrane transporter activity [GO:2000651]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cellular response to growth factor stimulus [GO:0090287]; regulation of heart rate [GO:0002027]; regulation of muscle system process [GO:0090257]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; regulation of skeletal muscle contraction [GO:0014819]; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion [GO:0014809]; regulation of voltage-gated calcium channel activity [GO:1901385]; response to muscle stretch [GO:0035994]; skeletal muscle tissue development [GO:0007519]
  • GO – Cellular Componentcell junction [GO:0030054]; cell projection [GO:0042995]; cell-substrate junction [GO:0030055]; cell surface [GO:0009986]; cortical actin cytoskeleton [GO:0030864]; costamere [GO:0043034]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dystrophin-associated glycoprotein complex [GO:0016010]; filopodium [GO:0030175]; filopodium membrane [GO:0031527]; membrane raft [GO:0045121]; neuron projection terminus [GO:0044306]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; synapse [GO:0045202]; syntrophin complex [GO:0016013]; Z disc [GO:0030018]
  • GO – Molecular Functionactin binding [GO:0003779]; actin filament binding [GO:0051015]; dystroglycan binding [GO:0002162]; myosin binding [GO:0017022]; nitric-oxide synthase binding [GO:0050998]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of muscle [GO:0008307]; vinculin binding [GO:0017166]; zinc ion binding [GO:0008270]