Property Summary

NCBI Gene PubMed Count 372
Grant Count 1,161
R01 Count 572
Funding $245,321,807.59
PubMed Score 3102.99
PubTator Score 2874.81

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (60)

Disease Z-score Confidence
Myopathy 128 8.492 4.0
Cardiomyopathy 110 5.776 2.9
Glycerol kinase deficiency 10 4.154 2.1
Intellectual disability 573 4.154 2.1
Neuropathy 210 3.979 2.0
Gas gangrene 15 3.84 1.9
Amyotrophic Lateral Sclerosis 431
Becker muscular dystrophy 187
Breast cancer 3,094
Calcinosis 62
Carcinoma 2,147 1.0
Cardiomegaly 66
Cardiomyopathies 90
Cardiomyopathy, Dilated 47
Dilated cardiomyopathy 50 5.0
Dmd-Associated Dilated Cardiomyopathy 1
Duchenne muscular dystrophy 602
Gastrointestinal Stromal Tumors 8
Kidney cancer 118 1.0
Leiomyosarcoma 19
Mental depression 58 1.0
Muscular Dystrophy, Animal 2
Muscular Dystrophy, Duchenne 7
Muscular dystrophy 48
Necrosis 51
Neoplasm Invasiveness 127
Neoplasm Metastasis 138
Pervasive developmental disorder 3 2.0
Polycystic Ovary Syndrome 332
Rhabdomyosarcoma, Embryonal 3
Status Epilepticus 85
Ventricular Dysfunction 7
active ulcerative colitis 477
adrenocortical carcinoma 1,427
atypical teratoid / rhabdoid tumor 4,369
breast carcinoma 1,614
chronic lymphosyte leukemia 232
colon cancer 1,475
cutaneous lupus erythematosus 1,056
cystic fibrosis 1,665
dermatomyositis 933
ductal carcinoma in situ 1,745
ependymoma 2,514
group 4 medulloblastoma 1,875
hereditary spastic paraplegia 313
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
lung adenocarcinoma 2,713
lung cancer 4,466
medulloblastoma, large-cell 6,234
nasopharyngeal carcinoma 1,056
non-small cell lung cancer 2,798
ovarian cancer 8,484
pancreatic cancer 2,300
pancreatic ductal adenocarcinoma liver m... 1,795 
pituitary cancer 1,972
psoriasis 6,685
tuberculosis 1,557

Expression

Synonym

Accession P11532 E9PDN1 Q02295 Q14169 Q14170 Q5JYU0 Q6NSJ9 Q7KZ48 Q8N754 Q9UCW3 Q9UCW4
Symbols BMD
CMD3B
MRX85
DXS142
DXS164
DXS206
DXS230
DXS239
DXS268
DXS269
DXS270
DXS272

Gene

DMD

PDB

1DXX   1EG3   1EG4   3UUN  

Gene RIF (240)

PMID Text
26974331 Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.
26786758 the deletion patterns and distribution characteristics of the dystrophin gene in a Chinese population of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy, are reported.
26762977 Data show that viral vector-mediated transient designer nuclease expression leads to permanent and regulated dystrophin synthesis from corrected native Duchenne muscular dystrophy (DMD) alleles.
26691328 Knocking down Dp71 expression can significantly inhibit the A549 xenograft tumor growth in nude mice.
26631896 attention should be paid to the possibility of severe arrhythmias in the severe phenotype of Becker muscular dystrophy
26516677 probed the role of N-terminal CH1 and C-terminal CH2 domains in the structure and function of dystrophin tandem CH domain and compared with earlier results on utrophin to understand the unifying principles of how tandem CH domains work
26392559 Data show that the missense mutations, L54R and L172H caused steady-state decreases in dystrophin protein levels inversely proportional to the tertiary stability and directly caused by proteasomal degradation.
26378238 analysis of the interaction between nNOS and dystrophin repeats 16 and 17
26365034 Males with mutations at the 3' end of the DMD gene affecting all protein isoforms have higher rates of intellectual disability and clusters of neurodevelopmental, emotional, and behavioural symptoms in Duchenne muscular dystrophy.
26321630 microRNAs contribute to variable dystrophin levels in muscular dystrophy.
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AA Sequence

MLWWEEVEDCYEREDVQKKTFTKWVNAQFSKFGKQHIENLFSDLQDGRRLLDLLEGLTGQKLPKEKGSTR      1 - 70
VHALNNVNKALRVLQNNNVDLVNIGSTDIVDGNHKLTLGLIWNIILHWQVKNVMKNIMAGLQQTNSEKIL     71 - 140
LSWVRQSTRNYPQVNVINFTTSWSDGLALNALIHSHRPDLFDWNSVVCQQSATQRLEHAFNIARYQLGIE    141 - 210
KLLDPEDVDTTYPDKKSILMYITSLFQVLPQQVSIEAIQEVEMLPRPPKVTKEEHFQLHHQMHYSQQITV    211 - 280
SLAQGYERTSSPKPRFKSYAYTQAAYVTTSDPTRSPFPSQHLEAPEDKSFGSSLMESEVNLDRYQTALEE    281 - 350
VLSWLLSAEDTLQAQGEISNDVEVVKDQFHTHEGYMMDLTAHQGRVGNILQLGSKLIGTGKLSEDEETEV    351 - 420
QEQMNLLNSRWECLRVASMEKQSNLHRVLMDLQNQKLKELNDWLTKTEERTRKMEEEPLGPDLEDLKRQV    421 - 490
QQHKVLQEDLEQEQVRVNSLTHMVVVVDESSGDHATAALEEQLKVLGDRWANICRWTEDRWVLLQDILLK    491 - 560
WQRLTEEQCLFSAWLSEKEDAVNKIHTTGFKDQNEMLSSLQKLAVLKADLEKKKQSMGKLYSLKQDLLST    561 - 630
LKNKSVTQKTEAWLDNFARCWDNLVQKLEKSTAQISQAVTTTQPSLTQTTVMETVTTVTTREQILVKHAQ    631 - 700
EELPPPPPQKKRQITVDSEIRKRLDVDITELHSWITRSEAVLQSPEFAIFRKEGNFSDLKEKVNAIEREK    701 - 770
AEKFRKLQDASRSAQALVEQMVNEGVNADSIKQASEQLNSRWIEFCQLLSERLNWLEYQNNIIAFYNQLQ    771 - 840
QLEQMTTTAENWLKIQPTTPSEPTAIKSQLKICKDEVNRLSDLQPQIERLKIQSIALKEKGQGPMFLDAD    841 - 910
FVAFTNHFKQVFSDVQAREKELQTIFDTLPPMRYQETMSAIRTWVQQSETKLSIPQLSVTDYEIMEQRLG    911 - 980
ELQALQSSLQEQQSGLYYLSTTVKEMSKKAPSEISRKYQSEFEEIEGRWKKLSSQLVEHCQKLEEQMNKL    981 - 1050
RKIQNHIQTLKKWMAEVDVFLKEEWPALGDSEILKKQLKQCRLLVSDIQTIQPSLNSVNEGGQKIKNEAE   1051 - 1120
PEFASRLETELKELNTQWDHMCQQVYARKEALKGGLEKTVSLQKDLSEMHEWMTQAEEEYLERDFEYKTP   1121 - 1190
DELQKAVEEMKRAKEEAQQKEAKVKLLTESVNSVIAQAPPVAQEALKKELETLTTNYQWLCTRLNGKCKT   1191 - 1260
LEEVWACWHELLSYLEKANKWLNEVEFKLKTTENIPGGAEEISEVLDSLENLMRHSEDNPNQIRILAQTL   1261 - 1330
TDGGVMDELINEELETFNSRWRELHEEAVRRQKLLEQSIQSAQETEKSLHLIQESLTFIDKQLAAYIADK   1331 - 1400
VDAAQMPQEAQKIQSDLTSHEISLEEMKKHNQGKEAAQRVLSQIDVAQKKLQDVSMKFRLFQKPANFEQR   1401 - 1470
LQESKMILDEVKMHLPALETKSVEQEVVQSQLNHCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKE   1471 - 1540
LDERVTALKLHYNELGAKVTERKQQLEKCLKLSRKMRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSE   1541 - 1610
VAWGKATQKEIEKQKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVTSRAEEWLNLLLEYQKH   1611 - 1680
METFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAANLMANRGDHCR   1681 - 1750
KLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAEIQQGVNLKEEDFNKDMNEDN   1751 - 1820
EGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNALKDLRSQRRKKALEISHQWYQYKRQADDLL   1821 - 1890
KCLDDIEKKLASLPEPRDERKIKEIDRELQKKKEELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIE   1891 - 1960
SKFAQFRRLNFAQIHTVREETMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFED   1961 - 2030
LFKQEESLKNIKDSLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFD   2031 - 2100
RSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVRTLNATGEEII   2101 - 2170
QQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDLNEFVLWLEEADNIASIPLEP   2171 - 2240
GKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVSAPISPEEQDKLENKLKQTNLQWIKVSRALP   2241 - 2310
EKQGEIEAQIKDLGQLEKKLEDLEEQLNHLLLWLSPIRNQLEIYNQPNQEGPFDVKETEIAVQAKQPDVE   2311 - 2380
EILSKGQHLYKEKPATQPVKRKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVV   2381 - 2450
TKETAISKLEMPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDL   2451 - 2520
EQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLKDSTQWLEAKE   2521 - 2590
EAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVH   2591 - 2660
MITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKG   2661 - 2730
VKELMKQWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSLNIRSHL   2731 - 2800
EASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVR   2801 - 2870
IFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLQELQ   2871 - 2940
EATDELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLS   2941 - 3010
PYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQT   3011 - 3080
TCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDILQI   3081 - 3150
INCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFK   3151 - 3220
QVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQ   3221 - 3290
SMVWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYC   3291 - 3360
TPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQLSH   3361 - 3430
DDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRSPAQILISLES   3431 - 3500
EERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQHKG   3501 - 3570
RLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSM   3571 - 3640
GEEDLLSPPQDTSTGLEEVMEQLNNSFPSSRGRNTPGKPMREDTM                            3641 - 3685
//

Text Mined References (383)

PMID Year Title
26974331 2016 Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26786758 2016 Distribution of dystrophin gene deletions in a Chinese population.
26762977 2016 Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations.
26691328 2016 Knocking down Dp71 expression in A549 cells reduces its malignancy in vivo and in vitro.
26631896 2015 Life-threatening Arrhythmias in a Becker Muscular Dystrophy Family due to the Duplication of Exons 3-4 of the Dystrophin Gene.
26516677 2015 The N- and C-Terminal Domains Differentially Contribute to the Structure and Function of Dystrophin and Utrophin Tandem Calponin-Homology Domains.
26392559 2015 Disease-proportional proteasomal degradation of missense dystrophins.
26378238 2015 Structural Basis of Neuronal Nitric-oxide Synthase Interaction with Dystrophin Repeats 16 and 17.
26365034 2016 Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.
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