GENERAL INFORMATIONi
Gene namei DMD
Synonyms BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
Gene descriptioni Dystrophin
Protein classi Cancer-related genes
Disease related genes
FDA approved drug targets
Human disease related genes
Plasma proteins
Transporters
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome X
Cytoband
Chromosome location (bp) 31097677 - 33339609
Number of transcriptsi 38
Ensembl ENSG00000198947 (version 109)
Entrez gene 1756
HGNC HGNC:2928
UniProt P11532 (UniProt - Evidence at protein level)
neXtProt NX_P11532
GeneCards DMD
Antibodypedia DMD antibodies


PROTEIN FUNCTION
Protein function (UniProt)i Anchors 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. show less
Molecular function (UniProt)i Actin-binding
Ligand (UniProt)i Calcium, Metal-binding, Zinc
Gene summary (Entrez)i 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] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
DMD-201
ENSP00000288447
ENST00000288447
Q4G0X0
[Direct mapping] DMD protein; Dystrophin
Show all
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0110165 [cellular anatomical entity]
Show all
 772 aa
88.8 kDa 		No 0
DMD-202
ENSP00000340057
ENST00000343523
A0A5H1ZRP7
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
Show all
 970 aa
111.6 kDa 		No 0
DMD-203
ENSP00000354923
ENST00000357033
A0A075B6G3
[Direct mapping] Dystrophin
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001954 [positive regulation of cell-matrix adhesion]
GO:0002027 [regulation of heart rate]
GO:0003779 [actin binding]
GO:0005178 [integrin binding]
GO:0005515 [protein binding]
GO:0005521 [lamin binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005741 [mitochondrial outer membrane]
GO:0005794 [Golgi apparatus]
GO:0005840 [ribosome]
GO:0005856 [cytoskeleton]
GO:0005883 [neurofilament]
GO:0005886 [plasma membrane]
GO:0006355 [regulation of DNA-templated transcription]
GO:0007517 [muscle organ development]
GO:0007519 [skeletal muscle tissue development]
GO:0007568 [aging]
GO:0008065 [establishment of blood-nerve barrier]
GO:0008104 [protein localization]
GO:0008270 [zinc ion binding]
GO:0008284 [positive regulation of cell population proliferation]
GO:0009414 [response to water deprivation]
GO:0010468 [regulation of gene expression]
GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum]
GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion]
GO:0010976 [positive regulation of neuron projection development]
GO:0014069 [postsynaptic density]
GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion]
GO:0014819 [regulation of skeletal muscle contraction]
GO:0014894 [response to denervation involved in regulation of muscle adaptation]
GO:0014904 [myotube cell development]
GO:0016010 [dystrophin-associated glycoprotein complex]
GO:0016020 [membrane]
GO:0021629 [olfactory nerve structural organization]
GO:0021987 [cerebral cortex development]
GO:0030016 [myofibril]
GO:0030018 [Z disc]
GO:0030027 [lamellipodium]
GO:0030054 [cell junction]
GO:0030055 [cell-substrate junction]
GO:0030141 [secretory granule]
GO:0030154 [cell differentiation]
GO:0030165 [PDZ domain binding]
GO:0030182 [neuron differentiation]
GO:0030424 [axon]
GO:0030672 [synaptic vesicle membrane]
GO:0033137 [negative regulation of peptidyl-serine phosphorylation]
GO:0035994 [response to muscle stretch]
GO:0042383 [sarcolemma]
GO:0042391 [regulation of membrane potential]
GO:0042692 [muscle cell differentiation]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043403 [skeletal muscle tissue regeneration]
GO:0044306 [neuron projection terminus]
GO:0044877 [protein-containing complex binding]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0045213 [neurotransmitter receptor metabolic process]
GO:0045665 [negative regulation of neuron differentiation]
GO:0045666 [positive regulation of neuron differentiation]
GO:0046716 [muscle cell cellular homeostasis]
GO:0046872 [metal ion binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048812 [neuron projection morphogenesis]
GO:0050998 [nitric-oxide synthase binding]
GO:0051647 [nucleus localization]
GO:0051726 [regulation of cell cycle]
GO:0055001 [muscle cell development]
GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity]
GO:0060857 [establishment of glial blood-brain barrier]
GO:0065003 [protein-containing complex assembly]
GO:0070373 [negative regulation of ERK1 and ERK2 cascade]
GO:0071944 [cell periphery]
GO:0086001 [cardiac muscle cell action potential]
GO:0090287 [regulation of cellular response to growth factor stimulus]
GO:0097449 [astrocyte projection]
GO:0099572 [postsynaptic specialization]
GO:0099617 [matrix side of mitochondrial inner membrane]
GO:0120025 [plasma membrane bounded cell projection]
GO:1901385 [regulation of voltage-gated calcium channel activity]
GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation]
GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Show all
 3685 aa
426.8 kDa 		No 0
DMD-204
ENSP00000350765
ENST00000358062
H0Y304
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
Show all
 1972 aa
228.2 kDa 		No 0
DMD-205
ENSP00000352894
ENST00000359836
A0A5H1ZRP9
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
Show all
 1230 aa
141.8 kDa 		No 0
DMD-206
ENSP00000354464
ENST00000361471
P11532
[Direct mapping] Dystrophin
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027 [regulation of heart rate]
GO:0002162 [dystroglycan binding]
GO:0003779 [actin binding]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0007517 [muscle organ development]
GO:0007519 [skeletal muscle tissue development]
GO:0008104 [protein localization]
GO:0008270 [zinc ion binding]
GO:0008307 [structural constituent of muscle]
GO:0009986 [cell surface]
GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum]
GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion]
GO:0010976 [positive regulation of neuron projection development]
GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion]
GO:0014819 [regulation of skeletal muscle contraction]
GO:0015629 [actin cytoskeleton]
GO:0016010 [dystrophin-associated glycoprotein complex]
GO:0016013 [syntrophin complex]
GO:0016020 [membrane]
GO:0016328 [lateral plasma membrane]
GO:0017022 [myosin binding]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030036 [actin cytoskeleton organization]
GO:0030054 [cell junction]
GO:0030055 [cell-substrate junction]
GO:0030175 [filopodium]
GO:0030864 [cortical actin cytoskeleton]
GO:0031527 [filopodium membrane]
GO:0032991 [protein-containing complex]
GO:0033137 [negative regulation of peptidyl-serine phosphorylation]
GO:0035633 [maintenance of blood-brain barrier]
GO:0035994 [response to muscle stretch]
GO:0042383 [sarcolemma]
GO:0042995 [cell projection]
GO:0043034 [costamere]
GO:0043043 [peptide biosynthetic process]
GO:0044306 [neuron projection terminus]
GO:0044458 [motile cilium assembly]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0045666 [positive regulation of neuron differentiation]
GO:0046716 [muscle cell cellular homeostasis]
GO:0046872 [metal ion binding]
GO:0048666 [neuron development]
GO:0050998 [nitric-oxide synthase binding]
GO:0051015 [actin filament binding]
GO:0055001 [muscle cell development]
GO:0060048 [cardiac muscle contraction]
GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity]
GO:0065003 [protein-containing complex assembly]
GO:0071944 [cell periphery]
GO:0086001 [cardiac muscle cell action potential]
GO:0090257 [regulation of muscle system process]
GO:0090287 [regulation of cellular response to growth factor stimulus]
GO:0120025 [plasma membrane bounded cell projection]
GO:1901385 [regulation of voltage-gated calcium channel activity]
GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation]
GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Show all
 622 aa
70.7 kDa 		No 0
DMD-207
ENSP00000367948
ENST00000378677
A0A5H1ZRP8
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0046872 [metal ion binding]
GO:0071944 [cell periphery]
GO:0120025 [plasma membrane bounded cell projection]
Show all
 3681 aa
426 kDa 		No 0
DMD-208
ENSP00000367951
ENST00000378680
P11532
[Direct mapping] Dystrophin
Show all
B4DSV7
[Target identity:100%; Query identity:100%] Dystrophin isoform 4; cDNA FLJ60143, highly similar to Homo sapiens dystrophin, transcript variant Dp140bc, mRNA
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027 [regulation of heart rate]
GO:0002162 [dystroglycan binding]
GO:0003779 [actin binding]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0007517 [muscle organ development]
GO:0007519 [skeletal muscle tissue development]
GO:0008104 [protein localization]
GO:0008270 [zinc ion binding]
GO:0008307 [structural constituent of muscle]
GO:0009986 [cell surface]
GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum]
GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion]
GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion]
GO:0014819 [regulation of skeletal muscle contraction]
GO:0016010 [dystrophin-associated glycoprotein complex]
GO:0016013 [syntrophin complex]
GO:0016020 [membrane]
GO:0016328 [lateral plasma membrane]
GO:0017022 [myosin binding]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030036 [actin cytoskeleton organization]
GO:0030054 [cell junction]
GO:0030055 [cell-substrate junction]
GO:0030175 [filopodium]
GO:0030864 [cortical actin cytoskeleton]
GO:0031527 [filopodium membrane]
GO:0032991 [protein-containing complex]
GO:0033137 [negative regulation of peptidyl-serine phosphorylation]
GO:0035633 [maintenance of blood-brain barrier]
GO:0035994 [response to muscle stretch]
GO:0042383 [sarcolemma]
GO:0042995 [cell projection]
GO:0043034 [costamere]
GO:0043043 [peptide biosynthetic process]
GO:0044306 [neuron projection terminus]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0046716 [muscle cell cellular homeostasis]
GO:0046872 [metal ion binding]
GO:0048666 [neuron development]
GO:0050998 [nitric-oxide synthase binding]
GO:0051015 [actin filament binding]
GO:0055001 [muscle cell development]
GO:0060048 [cardiac muscle contraction]
GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity]
GO:0065003 [protein-containing complex assembly]
GO:0071944 [cell periphery]
GO:0086001 [cardiac muscle cell action potential]
GO:0090257 [regulation of muscle system process]
GO:0120025 [plasma membrane bounded cell projection]
GO:1901385 [regulation of voltage-gated calcium channel activity]
GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation]
GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Show all
 525 aa
59.8 kDa 		No 0
DMD-209
ENSP00000367974
ENST00000378702
P11532
[Direct mapping] Dystrophin
Show all
A0A0S2Z3B5
[Target identity:100%; Query identity:100%] Dystrophin isoform 2
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027 [regulation of heart rate]
GO:0002162 [dystroglycan binding]
GO:0003779 [actin binding]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0007517 [muscle organ development]
GO:0007519 [skeletal muscle tissue development]
GO:0008104 [protein localization]
GO:0008270 [zinc ion binding]
GO:0008307 [structural constituent of muscle]
GO:0009986 [cell surface]
GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum]
GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion]
GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion]
GO:0014819 [regulation of skeletal muscle contraction]
GO:0016010 [dystrophin-associated glycoprotein complex]
GO:0016013 [syntrophin complex]
GO:0016020 [membrane]
GO:0016328 [lateral plasma membrane]
GO:0017022 [myosin binding]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030036 [actin cytoskeleton organization]
GO:0030054 [cell junction]
GO:0030055 [cell-substrate junction]
GO:0030175 [filopodium]
GO:0030864 [cortical actin cytoskeleton]
GO:0031527 [filopodium membrane]
GO:0032991 [protein-containing complex]
GO:0033137 [negative regulation of peptidyl-serine phosphorylation]
GO:0035633 [maintenance of blood-brain barrier]
GO:0035994 [response to muscle stretch]
GO:0042383 [sarcolemma]
GO:0042995 [cell projection]
GO:0043034 [costamere]
GO:0043043 [peptide biosynthetic process]
GO:0044306 [neuron projection terminus]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0046716 [muscle cell cellular homeostasis]
GO:0046872 [metal ion binding]
GO:0048666 [neuron development]
GO:0050998 [nitric-oxide synthase binding]
GO:0051015 [actin filament binding]
GO:0055001 [muscle cell development]
GO:0060048 [cardiac muscle contraction]
GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity]
GO:0065003 [protein-containing complex assembly]
GO:0071944 [cell periphery]
GO:0086001 [cardiac muscle cell action potential]
GO:0090257 [regulation of muscle system process]
GO:0120025 [plasma membrane bounded cell projection]
GO:1901385 [regulation of voltage-gated calcium channel activity]
GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation]
GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Show all
 617 aa
70.4 kDa 		No 0
DMD-210
ENSP00000367977
ENST00000378705
H0Y3E8
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008270 [zinc ion binding]
GO:0046872 [metal ion binding]
Show all
 238 aa
27.4 kDa 		No 0
DMD-211
ENSP00000367979
ENST00000378707
A0A5H1ZRQ1
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
Show all
 1225 aa
141.4 kDa 		No 0
DMD-212
ENSP00000367997
ENST00000378723
P11532
[Direct mapping] Dystrophin
Show all
A0A0S2Z3J7
[Target identity:100%; Query identity:100%] Dystrophin isoform 1
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027 [regulation of heart rate]
GO:0002162 [dystroglycan binding]
GO:0003779 [actin binding]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0007517 [muscle organ development]
GO:0007519 [skeletal muscle tissue development]
GO:0008104 [protein localization]
GO:0008270 [zinc ion binding]
GO:0008307 [structural constituent of muscle]
GO:0009986 [cell surface]
GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum]
GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion]
GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion]
GO:0014819 [regulation of skeletal muscle contraction]
GO:0016010 [dystrophin-associated glycoprotein complex]
GO:0016013 [syntrophin complex]
GO:0016020 [membrane]
GO:0016328 [lateral plasma membrane]
GO:0017022 [myosin binding]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030036 [actin cytoskeleton organization]
GO:0030054 [cell junction]
GO:0030055 [cell-substrate junction]
GO:0030175 [filopodium]
GO:0030864 [cortical actin cytoskeleton]
GO:0031527 [filopodium membrane]
GO:0032991 [protein-containing complex]
GO:0033137 [negative regulation of peptidyl-serine phosphorylation]
GO:0035633 [maintenance of blood-brain barrier]
GO:0035994 [response to muscle stretch]
GO:0042383 [sarcolemma]
GO:0042995 [cell projection]
GO:0043034 [costamere]
GO:0043043 [peptide biosynthetic process]
GO:0044306 [neuron projection terminus]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0046716 [muscle cell cellular homeostasis]
GO:0046872 [metal ion binding]
GO:0048666 [neuron development]
GO:0050998 [nitric-oxide synthase binding]
GO:0051015 [actin filament binding]
GO:0055001 [muscle cell development]
GO:0060048 [cardiac muscle contraction]
GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity]
GO:0065003 [protein-containing complex assembly]
GO:0071944 [cell periphery]
GO:0086001 [cardiac muscle cell action potential]
GO:0090257 [regulation of muscle system process]
GO:0120025 [plasma membrane bounded cell projection]
GO:1901385 [regulation of voltage-gated calcium channel activity]
GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation]
GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Show all
 635 aa
72.2 kDa 		No 0
DMD-213
ENSP00000399897
ENST00000420596
Q14172
[Direct mapping] Duchenne muscular dystrophy protein; Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
Show all
 101 aa
12 kDa 		No 0
DMD-214
ENSP00000395904
ENST00000447523
Q14174
[Direct mapping] Duchenne muscular dystrophy protein; Dystrophin
Show all
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
Show all
 125 aa
14.5 kDa 		No 0
DMD-215
ENSP00000388559
ENST00000448370
A0A0B4J1W6
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
 41 aa
5.3 kDa 		No 0
DMD-220
ENSP00000417123
ENST00000474231
A0A5H1ZRQ8
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
Show all
 1243 aa
143.2 kDa 		No 0
DMD-225
ENSP00000417725
ENST00000493412
H0Y864
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
 134 aa
16.1 kDa 		No 0
DMD-226
ENSP00000444119
ENST00000541735
A0A5H1ZRR9
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
Show all
 1115 aa
129 kDa 		No 0
DMD-227
ENSP00000479270
ENST00000619831
A0A087WV90
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0046872 [metal ion binding]
Show all
 2341 aa
271.1 kDa 		No 0
DMD-228
ENSP00000478150
ENST00000620040
A0A087WTU7
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
Show all
 1154 aa
133.7 kDa 		No 0
DMD-231
ENSP00000506629
ENST00000679437
A0A7P0Z4Q6
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
 257 aa
28.7 kDa 		No 0
DMD-235
ENSP00000506310
ENST00000679706
A0A7P0TAX0
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
 257 aa
29.2 kDa 		No 0
DMD-237
ENSP00000506634
ENST00000680162
A0A7P0Z4P7
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008270 [zinc ion binding]
GO:0046872 [metal ion binding]
Show all
 600 aa
68.3 kDa 		No 0
DMD-238
ENSP00000506462
ENST00000680216
A0A7P0TB71
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
 31 aa
3.5 kDa 		No 0
DMD-239
ENSP00000506257
ENST00000680355
A0A7P0TAM6
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008270 [zinc ion binding]
GO:0046872 [metal ion binding]
Show all
 507 aa
58 kDa 		No 0
DMD-240
ENSP00000505164
ENST00000680557
A0A0S2Z3B2
[Direct mapping] Dystrophin; Dystrophin isoform 5
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
 216 aa
24.8 kDa 		No 0
DMD-242
ENSP00000506359
ENST00000680768
A0A7P0TAW7
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008270 [zinc ion binding]
GO:0046872 [metal ion binding]
Show all
 584 aa
66.9 kDa 		No 0
DMD-244
ENSP00000506689
ENST00000681026
A0A7P0Z4Q6
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
 257 aa
28.7 kDa 		No 0
DMD-245
ENSP00000505124
ENST00000681153
A0A7P0T8I2
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008270 [zinc ion binding]
GO:0046872 [metal ion binding]
Show all
 594 aa
67.8 kDa 		No 0
DMD-246
ENSP00000506066
ENST00000681334
A0A7P0TA90
[Direct mapping] Dystrophin
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
 227 aa
25.9 kDa 		No 0
DMD-249
ENSP00000505228
ENST00000681839
A0A7P0Z447
[Direct mapping] Dystrophin
Show all
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 285 aa
32.2 kDa 		Yes 0
DMD-250
ENSP00000506709
ENST00000681870
A0A7P0TBK1
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005975 [carbohydrate metabolic process]
GO:0016810 [hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds]
Show all
 29 aa
3.5 kDa 		No 0
DMD-252
ENSP00000508133
ENST00000682071
A0A804HKZ5
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 524 aa
60.5 kDa 		No 0
DMD-256
ENSP00000508124
ENST00000682238
A0A804HKY9
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
Show all
 1133 aa
130.8 kDa 		No 0
DMD-258
ENSP00000507690
ENST00000682322
A0A804HJY0
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008270 [zinc ion binding]
GO:0046872 [metal ion binding]
Show all
 582 aa
66.5 kDa 		No 0
DMD-262
ENSP00000507640
ENST00000682600
P11532
[Direct mapping] Dystrophin
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027 [regulation of heart rate]
GO:0002162 [dystroglycan binding]
GO:0003779 [actin binding]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0007517 [muscle organ development]
GO:0007519 [skeletal muscle tissue development]
GO:0008104 [protein localization]
GO:0008270 [zinc ion binding]
GO:0008307 [structural constituent of muscle]
GO:0009986 [cell surface]
GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum]
GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion]
GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion]
GO:0014819 [regulation of skeletal muscle contraction]
GO:0016010 [dystrophin-associated glycoprotein complex]
GO:0016013 [syntrophin complex]
GO:0016020 [membrane]
GO:0016328 [lateral plasma membrane]
GO:0017022 [myosin binding]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030036 [actin cytoskeleton organization]
GO:0030054 [cell junction]
GO:0030055 [cell-substrate junction]
GO:0030175 [filopodium]
GO:0030864 [cortical actin cytoskeleton]
GO:0031527 [filopodium membrane]
GO:0032991 [protein-containing complex]
GO:0033137 [negative regulation of peptidyl-serine phosphorylation]
GO:0035633 [maintenance of blood-brain barrier]
GO:0035994 [response to muscle stretch]
GO:0042383 [sarcolemma]
GO:0042995 [cell projection]
GO:0043034 [costamere]
GO:0043043 [peptide biosynthetic process]
GO:0044306 [neuron projection terminus]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0046716 [muscle cell cellular homeostasis]
GO:0046872 [metal ion binding]
GO:0048666 [neuron development]
GO:0050998 [nitric-oxide synthase binding]
GO:0051015 [actin filament binding]
GO:0055001 [muscle cell development]
GO:0060048 [cardiac muscle contraction]
GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity]
GO:0065003 [protein-containing complex assembly]
GO:0071944 [cell periphery]
GO:0086001 [cardiac muscle cell action potential]
GO:0090257 [regulation of muscle system process]
GO:0120025 [plasma membrane bounded cell projection]
GO:1901385 [regulation of voltage-gated calcium channel activity]
GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation]
GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Show all
 604 aa
68.9 kDa 		No 0
DMD-283
ENSP00000508037
ENST00000684130
A0A804HKR4
[Direct mapping] Dystrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
Show all
 1212 aa
140 kDa 		No 0
DMD-285
ENSP00000507277
ENST00000684237
A0A804HIY5
[Direct mapping] Dystrophin
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0110165 [cellular anatomical entity]
Show all
 491 aa
56.8 kDa 		No 0

Contact

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The Human Protein Atlas

The Human Protein Atlas project is funded
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