DMD
dystrophin | BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85

This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]

Member of: DE-4 Developmental clusters: GC2
Biological processes 126 terms
GABA-ergic synapse (GO:0098982)PDZ domain binding (GO:0030165)Z disc (GO:0030018)Z disc (GO:0030018)actin binding (GO:0003779)actin binding (GO:0003779)actin binding (GO:0003779)actin cytoskeleton (GO:0015629)astrocyte projection (GO:0097449)axon (GO:0030424)camera-type eye development (GO:0043010)cardiac muscle cell action potential (GO:0086001)cardiac muscle cell action potential (GO:0086001)cardiac muscle contraction (GO:0060048)cell differentiation (GO:0030154)cell junction (GO:0030054)cell surface (GO:0009986)cell-substrate junction (GO:0030055)cell-substrate junction (GO:0030055)cerebral cortex development (GO:0021987)costamere (GO:0043034)cytoskeleton (GO:0005856)cytoskeleton (GO:0005856)cytoskeleton organization (GO:0007010)cytosol (GO:0005829)dystroglycan binding (GO:0002162)dystrophin-associated glycoprotein complex (GO:0016010)dystrophin-associated glycoprotein complex (GO:0016010)dystrophin-associated glycoprotein complex (GO:0016010)dystrophin-associated glycoprotein complex (GO:0016010)filopodium (GO:0030175)filopodium membrane (GO:0031527)filopodium membrane (GO:0031527)integrin binding (GO:0005178)intracellular protein localization (GO:0008104)intracellular protein localization (GO:0008104)lamellipodium (GO:0030027)lamin binding (GO:0005521)lateral plasma membrane (GO:0016328)maintenance of blood-brain barrier (GO:0035633)matrix side of mitochondrial inner membrane (GO:0099617)membrane raft (GO:0045121)membrane raft (GO:0045121)membrane raft (GO:0045121)mitochondrial outer membrane (GO:0005741)motile cilium assembly (GO:0044458)muscle cell cellular homeostasis (GO:0046716)muscle cell development (GO:0055001)muscle cell development (GO:0055001)muscle cell differentiation (GO:0042692)muscle contraction (GO:0006936)muscle organ development (GO:0007517)myofibril (GO:0030016)myosin binding (GO:0017022)negative regulation of neuron differentiation (GO:0045665)neurofilament (GO:0005883)neuron development (GO:0048666)neuron differentiation (GO:0030182)neuron projection morphogenesis (GO:0048812)neuron projection terminus (GO:0044306)neuron projection terminus (GO:0044306)neuronal cell body (GO:0043025)nitric-oxide synthase binding (GO:0050998)nitric-oxide synthase binding (GO:0050998)nucleus (GO:0005634)nucleus (GO:0005634)nucleus (GO:0005634)peptide biosynthetic process (GO:0043043)perinuclear region of cytoplasm (GO:0048471)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)positive regulation of cell population proliferation (GO:0008284)positive regulation of cell-matrix adhesion (GO:0001954)positive regulation of neuron differentiation (GO:0045666)positive regulation of neuron differentiation (GO:0045666)positive regulation of neuron projection development (GO:0010976)positive regulation of neuron projection development (GO:0010976)postsynapse (GO:0098794)postsynaptic density (GO:0014069)postsynaptic membrane (GO:0045211)postsynaptic specialization (GO:0099572)protein binding (GO:0005515)protein-containing complex (GO:0032991)protein-containing complex assembly (GO:0065003)protein-containing complex assembly (GO:0065003)protein-containing complex binding (GO:0044877)regulation of calcium ion transmembrane transport (GO:1903169)regulation of calcium ion transmembrane transport (GO:1903169)regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)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 cellular response to growth factor stimulus (GO:0090287)regulation of heart rate (GO:0002027)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 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)regulation of skeletal muscle contraction (GO:0014819)regulation of skeletal muscle contraction (GO:0014819)regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)regulation of sodium ion transmembrane transport (GO:1902305)regulation of sodium ion transmembrane transport (GO:1902305)regulation of system process (GO:0044057)response to denervation involved in regulation of muscle adaptation (GO:0014894)response to muscle stretch (GO:0035994)ribosome (GO:0005840)sarcolemma (GO:0042383)sarcolemma (GO:0042383)sarcolemma (GO:0042383)secretory granule (GO:0030141)skeletal muscle tissue development (GO:0007519)skeletal muscle tissue regeneration (GO:0043403)structural constituent of cytoskeleton (GO:0005200)structural constituent of muscle (GO:0008307)structural constituent of muscle (GO:0008307)synapse (GO:0045202)synapse (GO:0045202)synaptic signaling (GO:0099536)synaptic signaling (GO:0099536)synaptic vesicle membrane (GO:0030672)syntrophin complex (GO:0016013)vinculin binding (GO:0017166)vinculin binding (GO:0017166)zinc ion binding (GO:0008270)
Expression (TPM)