DMD
entrez
1756
canonical
uniprot
P11532
canonical
ensembl
ENSG00000198947
resolver
ensp
ENSP00000288447
resolver
ensp
ENSP00000340057
resolver
ensp
ENSP00000350765
resolver
ensp
ENSP00000352894
resolver
ensp
ENSP00000354464
resolver
ensp
ENSP00000354923
resolver
ensp
ENSP00000367948
resolver
ensp
ENSP00000367974
resolver
ensp
ENSP00000367979
resolver
ensp
ENSP00000367997
resolver
ensp
ENSP00000417123
resolver
ensp
ENSP00000444119
resolver
ensp
ENSP00000479270
resolver
ensp
ENSP00000507640
resolver
ensp
ENSP00000508124
resolver
enst
ENST00000288447
resolver
enst
ENST00000359836
resolver
enst
ENST00000378707
resolver
enst
ENST00000474231
resolver
enst
ENST00000541735
resolver
enst
ENST00000619831
resolver
enst
ENST00000682238
resolver
genesymbol
DMD
resolver
hgnc
HGNC:2928
resolver
uniprot
A0A075B6G3
resolver
uniprot
A0A087WV90
resolver
uniprot
A0A0S2Z3B5
resolver
uniprot
A0A0S2Z3J7
resolver
uniprot
A0A5H1ZRP9
resolver
uniprot
A0A5H1ZRQ1
resolver
uniprot
A0A5H1ZRQ8
resolver
uniprot
A0A5H1ZRR9
resolver
uniprot
A0A804HKY9
resolver
uniprot
A1L0U9
resolver
uniprot
A7E212
resolver
uniprot
E7EQR9
resolver
uniprot
E7EQS5
resolver
uniprot
E7ESB2
resolver
uniprot
E9PDN1
resolver
uniprot
E9PDN5
resolver
uniprot
F5GZY3
resolver
uniprot
F6RRH4
resolver
uniprot
F8VX32
resolver
uniprot
Q02295
resolver
uniprot
Q14169
resolver
uniprot
Q14170
resolver
uniprot
Q16484
resolver
uniprot
Q4G0X0
resolver
uniprot
Q5JYU0
resolver
uniprot
Q6NSJ9
resolver
uniprot
Q7KZ48
resolver
uniprot
Q8N754
resolver
uniprot
Q9UCW3
resolver
uniprot
Q9UCW4
resolver
uniprot_entry
A0A087WV90_HUMAN
resolver
uniprot_entry
A0A0S2Z3B5_HUMAN
resolver
uniprot_entry
A0A0S2Z3J7_HUMAN
resolver
uniprot_entry
A0A5H1ZRP9_HUMAN
resolver
uniprot_entry
A0A5H1ZRQ1_HUMAN
resolver
uniprot_entry
A0A5H1ZRQ8_HUMAN
resolver
uniprot_entry
A0A5H1ZRR9_HUMAN
resolver
uniprot_entry
A0A804HKY9_HUMAN
resolver
uniprot_entry
A7E212_HUMAN
resolver
uniprot_entry
DMD_HUMAN
resolver
uniprot_entry
F6RRH4_HUMAN
resolver
uniprot_entry
Q16484_HUMAN
resolver
uniprot_entry
Q4G0X0_HUMAN
resolver
uniprot_sec
A0A075B6G3
resolver
uniprot_sec
A1L0U9
resolver
uniprot_sec
E7EQR9
resolver
uniprot_sec
E7EQS5
resolver
uniprot_sec
E7ESB2
resolver
uniprot_sec
E9PDN1
resolver
uniprot_sec
E9PDN5
resolver
uniprot_sec
F5GZY3
resolver
uniprot_sec
F8VX32
resolver
uniprot_sec
Q02295
resolver
uniprot_sec
Q14169
resolver
uniprot_sec
Q14170
resolver
uniprot_sec
Q5JYU0
resolver
uniprot_sec
Q6NSJ9
resolver
uniprot_sec
Q7KZ48
resolver
uniprot_sec
Q8N754
resolver
uniprot_sec
Q9UCW3
resolver
uniprot_sec
Q9UCW4
resolver
amino_acid_sequence
MLWWEEVEDCYEREDVQKKTFTKWVNAQFSKFGKQHIENLFSDLQDGRRLLDLLEGLTGQKLPKEKGSTRVHALNNVNKALRVLQNNNVDLVNIGSTDIVDGNHKLTLGLIWNIILHWQVKNVMKNIMAGLQQTNSEKILLSWVRQSTRNYPQVNVINFTTSWSDGLALNALIHSHRPDLFDWNSVVCQQSATQRLEHAFNIARYQLGIEKLLDPEDVDTTYPDKKSILMYITSLFQVLPQQVSIEAIQEVEMLPRPPKVTKEEHFQLHHQMHYSQQITVSLAQGYERTSSPKPRFKSYAYTQAAYVTTSDPTRSPFPSQHLEAPEDKSFGSSLMESEVNLDRYQTALEEVLSWLLSAEDTLQAQGEISNDVEVVKDQFHTHEGYMMDLTAHQGRVGNILQLGSKLIGTGKLSEDEETEVQEQMNLLNSRWECLRVASMEKQSNLHRVLMDLQNQKLKELNDWLTKTEERTRKMEEEPLGPDLEDLKRQVQQHKVLQEDLEQEQVRVNSLTHMVVVVDESSGDHATAALEEQLKVLGDRWANICRWTEDRWVLLQDILLKWQRLTEEQCLFSAWLSEKEDAVNKIHTTGFKDQNEMLSSLQKLAVLKADLEKKKQSMGKLYSLKQDLLSTLKNKSVTQKTEAWLDNFARCWDNLVQKLEKSTAQISQAVTTTQPSLTQTTVMETVTTVTTREQILVKHAQEELPPPPPQKKRQITVDSEIRKRLDVDITELHSWITRSEAVLQSPEFAIFRKEGNFSDLKEKVNAIEREKAEKFRKLQDASRSAQALVEQMVNEGVNADSIKQASEQLNSRWIEFCQLLSERLNWLEYQNNIIAFYNQLQQLEQMTTTAENWLKIQPTTPSEPTAIKSQLKICKDEVNRLSDLQPQIERLKIQSIALKEKGQGPMFLDADFVAFTNHFKQVFSDVQAREKELQTIFDTLPPMRYQETMSAIRTWVQQSETKLSIPQLSVTDYEIMEQRLGELQALQSSLQEQQSGLYYLSTTVKEMSKKAPSEISRKYQSEFEEIEGRWKKLSSQLVEHCQKLEEQMNKLRKIQNHIQTLKKWMAEVDVFLKEEWPALGDSEILKKQLKQCRLLVSDIQTIQPSLNSVNEGGQKIKNEAEPEFASRLETELKELNTQWDHMCQQVYARKEALKGGLEKTVSLQKDLSEMHEWMTQAEEEYLERDFEYKTPDELQKAVEEMKRAKEEAQQKEAKVKLLTESVNSVIAQAPPVAQEALKKELETLTTNYQWLCTRLNGKCKTLEEVWACWHELLSYLEKANKWLNEVEFKLKTTENIPGGAEEISEVLDSLENLMRHSEDNPNQIRILAQTLTDGGVMDELINEELETFNSRWRELHEEAVRRQKLLEQSIQSAQETEKSLHLIQESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISLEEMKKHNQGKEAAQRVLSQIDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQSQLNHCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVTERKQQLEKCLKLSRKMRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKEIEKQKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVTSRAEEWLNLLLEYQKHMETFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAANLMANRGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAEIQQGVNLKEEDFNKDMNEDNEGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNALKDLRSQRRKKALEISHQWYQYKRQADDLLKCLDDIEKKLASLPEPRDERKIKEIDRELQKKKEELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIESKFAQFRRLNFAQIHTVREETMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFEDLFKQEESLKNIKDSLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFDRSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVRTLNATGEEIIQQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDLNEFVLWLEEADNIASIPLEPGKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVSAPISPEEQDKLENKLKQTNLQWIKVSRALPEKQGEIEAQIKDLGQLEKKLEDLEEQLNHLLLWLSPIRNQLEIYNQPNQEGPFDVKETEIAVQAKQPDVEEILSKGQHLYKEKPATQPVKRKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLEMPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLRELQEATDELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFPSSRGRNTPGKPMREDTM
uniprot
proteins
disease_involvement
DISEASE: Duchenne muscular dystrophy (DMD) [MIM:310200]: Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. {ECO:0000269|PubMed:12632325, ECO:0000269|PubMed:24302611, ECO:0000269|PubMed:7981590, ECO:0000269|PubMed:7981690, ECO:0000269|PubMed:8401582, ECO:0000269|PubMed:8817332, ECO:0000269|PubMed:9851445}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Becker muscular dystrophy (BMD) [MIM:300376]: A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy. {ECO:0000269|PubMed:10573008, ECO:0000269|PubMed:7951253, ECO:0000269|PubMed:8281150}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 3B (CMD3B) [MIM:302045]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD3B is an X-linked disorder. {ECO:0000269|PubMed:12359139, ECO:0000269|PubMed:25340340, ECO:0000269|PubMed:32410525, ECO:0000269|PubMed:9170407}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000250|UniProtKB:P11531, ECO:0000269|PubMed:16710609}.
uniprot
proteins
mass_dalton
426778
uniprot
proteins
pubmed
10573008
uniprot
proteins
pubmed
10734266
uniprot
proteins
pubmed
10747910
uniprot
proteins
pubmed
10801490
uniprot
proteins
pubmed
10932245
uniprot
proteins
pubmed
11495720
uniprot
proteins
pubmed
12354438
uniprot
proteins
pubmed
12359139
uniprot
proteins
pubmed
12632325
uniprot
proteins
pubmed
1319059
uniprot
proteins
pubmed
14636778
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16000376
uniprot
proteins
pubmed
16710609
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21396098
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
2407739
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24302611
uniprot
proteins
pubmed
25340340
uniprot
proteins
pubmed
2569720
uniprot
proteins
pubmed
2648158
uniprot
proteins
pubmed
2668885
uniprot
proteins
pubmed
3205741
uniprot
proteins
pubmed
32410525
uniprot
proteins
pubmed
3282674
uniprot
proteins
pubmed
3428261
uniprot
proteins
pubmed
3607877
uniprot
proteins
pubmed
7592992
uniprot
proteins
pubmed
7844150
uniprot
proteins
pubmed
7849724
uniprot
proteins
pubmed
7951253
uniprot
proteins
pubmed
7981590
uniprot
proteins
pubmed
7981690
uniprot
proteins
pubmed
8045556
uniprot
proteins
pubmed
8281150
uniprot
proteins
pubmed
8401582
uniprot
proteins
pubmed
8541829
uniprot
proteins
pubmed
8576247
uniprot
proteins
pubmed
8817332
uniprot
proteins
pubmed
9170407
uniprot
proteins
pubmed
9370062
uniprot
proteins
pubmed
9851445
uniprot
proteins
sequence_length
3685
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P11531}; Peripheral membrane protein {ECO:0000250|UniProtKB:P11531}; Cytoplasmic side {ECO:0000250|UniProtKB:P11531}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P11531}. Postsynaptic cell membrane {ECO:0000250|UniProtKB:P11531}. Note=In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs). In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. {ECO:0000250|UniProtKB:P11531}.
uniprot
proteins