• Gene id: 1756

Gene Summary

• Gene Symbol: DMD   Gene   UCSC   Ensembl
• Aliases: BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
• Gene name: dystrophin
• Alternate names: dystrophin,
• Gene location: Xp21.2-p21.1 (33339459: 31119218)     Exons: 89     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300377

Protein Summary

• Protein general information: P11532  
  • Name: Dystrophin
  • Length: 3685  
  • Mass: 426750
  • Tissue specificity: Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Most tissues contain transcripts of multiple isoforms. Isoform 15
• Sequence:

  MLWWEEVEDCYEREDVQKKTFTKWVNAQFSKFGKQHIENLFSDLQDGRRLLDLLEGLTGQKLPKEKGSTRVHALN
  NVNKALRVLQNNNVDLVNIGSTDIVDGNHKLTLGLIWNIILHWQVKNVMKNIMAGLQQTNSEKILLSWVRQSTRN
  YPQVNVINFTTSWSDGLALNALIHSHRPDLFDWNSVVCQQSATQRLEHAFNIARYQLGIEKLLDPEDVDTTYPDK
  KSILMYITSLFQVLPQQVSIEAIQEVEMLPRPPKVTKEEHFQLHHQMHYSQQITVSLAQGYERTSSPKPRFKSYA
  YTQAAYVTTSDPTRSPFPSQHLEAPEDKSFGSSLMESEVNLDRYQTALEEVLSWLLSAEDTLQAQGEISNDVEVV
  KDQFHTHEGYMMDLTAHQGRVGNILQLGSKLIGTGKLSEDEETEVQEQMNLLNSRWECLRVASMEKQSNLHRVLM
  DLQNQKLKELNDWLTKTEERTRKMEEEPLGPDLEDLKRQVQQHKVLQEDLEQEQVRVNSLTHMVVVVDESSGDHA
  TAALEEQLKVLGDRWANICRWTEDRWVLLQDILLKWQRLTEEQCLFSAWLSEKEDAVNKIHTTGFKDQNEMLSSL
  QKLAVLKADLEKKKQSMGKLYSLKQDLLSTLKNKSVTQKTEAWLDNFARCWDNLVQKLEKSTAQISQAVTTTQPS
  LTQTTVMETVTTVTTREQILVKHAQEELPPPPPQKKRQITVDSEIRKRLDVDITELHSWITRSEAVLQSPEFAIF
  RKEGNFSDLKEKVNAIEREKAEKFRKLQDASRSAQALVEQMVNEGVNADSIKQASEQLNSRWIEFCQLLSERLNW
  LEYQNNIIAFYNQLQQLEQMTTTAENWLKIQPTTPSEPTAIKSQLKICKDEVNRLSDLQPQIERLKIQSIALKEK
  GQGPMFLDADFVAFTNHFKQVFSDVQAREKELQTIFDTLPPMRYQETMSAIRTWVQQSETKLSIPQLSVTDYEIM
  EQRLGELQALQSSLQEQQSGLYYLSTTVKEMSKKAPSEISRKYQSEFEEIEGRWKKLSSQLVEHCQKLEEQMNKL
  RKIQNHIQTLKKWMAEVDVFLKEEWPALGDSEILKKQLKQCRLLVSDIQTIQPSLNSVNEGGQKIKNEAEPEFAS
  RLETELKELNTQWDHMCQQVYARKEALKGGLEKTVSLQKDLSEMHEWMTQAEEEYLERDFEYKTPDELQKAVEEM
  KRAKEEAQQKEAKVKLLTESVNSVIAQAPPVAQEALKKELETLTTNYQWLCTRLNGKCKTLEEVWACWHELLSYL
  EKANKWLNEVEFKLKTTENIPGGAEEISEVLDSLENLMRHSEDNPNQIRILAQTLTDGGVMDELINEELETFNSR
  WRELHEEAVRRQKLLEQSIQSAQETEKSLHLIQESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISLE
  EMKKHNQGKEAAQRVLSQIDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQS
  QLNHCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVTERKQQLEKCLKLSRK
  MRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKEIEKQKVHLKSITEVGEALKTVLGKKETLVE
  DKLSLLNSNWIAVTSRAEEWLNLLLEYQKHMETFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELN
  DIRPKVDSTRDQAANLMANRGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAE
  IQQGVNLKEEDFNKDMNEDNEGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNALKDLRSQRRKKALEI
  SHQWYQYKRQADDLLKCLDDIEKKLASLPEPRDERKIKEIDRELQKKKEELNAVRRQAEGLSEDGAAMAVEPTQI
  QLSKRWREIESKFAQFRRLNFAQIHTVREETMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCA
  KDFEDLFKQEESLKNIKDSLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFD
  RSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVRTLNATGEEIIQQSSK
  TDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDLNEFVLWLEEADNIASIPLEPGKEQQLKEKL
  EQVKLLVEELPLRQGILKQLNETGGPVLVSAPISPEEQDKLENKLKQTNLQWIKVSRALPEKQGEIEAQIKDLGQ
  LEKKLEDLEEQLNHLLLWLSPIRNQLEIYNQPNQEGPFDVKETEIAVQAKQPDVEEILSKGQHLYKEKPATQPVK
  RKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLEMPSSLMLEVPALADF
  NRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTII
  TDRIERIQNQWDEVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQ
  LAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEK
  FLAWLTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLL
  QRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRA
  FKRELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADW
  QRKIDETLERLQELQEATDELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLAR
  QLTTLGIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYIN
  HETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDILQI
  INCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASS
  TGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHR
  VAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAKV
  LKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQLSHDDTHSRIEHYASRLAEMENS
  NGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYD
  RLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQP
  QAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFPSSRGRNT
  PGKPMREDTM

• Structural information:
  • Protein Domains: (15..11-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (134..24-)
    2 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (3055..308-)
    (/note="WW-)
    (/evidence="ECO:00-)
  • Interpro: IPR001589  IPR001715  IPR036872  IPR035436  IPR011992   IPR015153  IPR015154  IPR018159  IPR002017  IPR001202  IPR036020  IPR000433  
  • Prosite: PS00019 PS00020 PS50021 PS01159 PS50020 PS01357 PS50135
  • CDD: cd00014 cd00201
  • PDB: 1DXX 1EG3 1EG4 3UUN
  • PDBsum: 1DXX 1EG3 1EG4 3UUN
  • DIP: 32593
  • STRING: ENSP00000354923
• Other Databases: GeneCards:  DMD  Malacards:  DMD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035633	maintenance of blood-brain barrier	NAS	biological process
GO:0002162	dystroglycan binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0007517	muscle organ development	NAS	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IDA	molecular function
GO:0017022	myosin binding	IDA	molecular function
GO:0017166	vinculin binding	IPI	molecular function
GO:0050998	nitric-oxide synthase binding	ISS	molecular function
GO:0030175	filopodium	IDA	cellular component
GO:0031527	filopodium membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS	biological process
GO:0014819	regulation of skeletal muscle contraction	ISS	biological process
GO:0016013	syntrophin complex	TAS	cellular component
GO:0016328	lateral plasma membrane	TAS	colocalizes with
GO:0033137	negative regulation of peptidyl-serine phosphorylation	ISS	biological process
GO:0086001	cardiac muscle cell action potential	ISS	biological process
GO:0086001	cardiac muscle cell action potential	ISS	biological process
GO:2000651	positive regulation of sodium ion transmembrane transporter activity	ISS	biological process
GO:0042383	sarcolemma	IDA	cellular component
GO:0046716	muscle cell cellular homeostasis	ISS	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0035994	response to muscle stretch	ISS	biological process
GO:0042383	sarcolemma	IDA	cellular component
GO:0002027	regulation of heart rate	IMP	biological process
GO:0014809	regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	ISS	biological process
GO:0034613	cellular protein localization	IMP	biological process
GO:0034622	cellular protein-containing complex assembly	ISS	biological process
GO:0034622	cellular protein-containing complex assembly	ISS	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	ISS	biological process
GO:1901385	regulation of voltage-gated calcium channel activity	ISS	biological process
GO:1902083	negative regulation of peptidyl-cysteine S-nitrosylation	ISS	biological process
GO:1902083	negative regulation of peptidyl-cysteine S-nitrosylation	ISS	biological process
GO:0030055	cell-substrate junction	ISS	cellular component
GO:0048747	muscle fiber development	ISS	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0044306	neuron projection terminus	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0043043	peptide biosynthetic process	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0008307	structural constituent of muscle	IDA	molecular function
GO:0043034	costamere	IDA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	IDA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0003779	actin binding	TAS	molecular function
GO:0016010	dystrophin-associated glycoprotein complex	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0002162	dystroglycan binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa05416	Viral myocarditis

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Dystrophinopathies	KEGG:H00562
Duchenne muscular dystrophy	KEGG:H01963
Becker muscular dystrophy	KEGG:H01964
Dilated cardiomyopathy	KEGG:H00294
Dystrophinopathies	KEGG:H00562
Duchenne muscular dystrophy	KEGG:H01963
Becker muscular dystrophy	KEGG:H01964
Intellectual disability	PMID:23900271
Duchenne muscular dystrophy	PMID:23975932
Duchenne muscular dystrophy	PMID:24010700
Duchenne muscular dystrophy	PMID:3055295
Cardiomyopathy	PMID:20373002
Cardiomyopathy	PMID:19194174
Cardiomyopathy	PMID:12359139
Cognitive disorder	PMID:24265581
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq