Property Summary

NCBI Gene PubMed Count 123
Grant Count 125
R01 Count 78
Funding $17,863,806.31
PubMed Score 786.48
PubTator Score 108.45

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (47)

Disease Z-score Confidence
Cardiomyopathy 110 5.564 2.8
Keratosis 34 5.349 2.7
Pemphigus 18 5.164 2.6
Bullous pemphigoid 17 5.058 2.5
Erythema multiforme 15 4.945 2.5
Pelvic inflammatory disease 21 4.141 2.1
LEOPARD Syndrome 20 3.83 1.9
Hailey-Hailey disease 10 3.518 1.8
Cellular schwannoma 1 3.436 1.7
Plexiform schwannoma 2 3.384 1.7
Cancer 2,346 3.148 1.6
Alopecia 55 3.075 1.5
Epidermolysis bullosa 21 3.033 1.5
Arrhythmogenic Right Ventricular Dysplas... 10 
Arrhythmogenic Right Ventricular Dysplas... 1 
Arrhythmogenic right ventricular cardiom... 27  5.0
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAI... 1 
Carcinoma 2,147 1.0
Cardiomyopathies 90
Cardiomyopathy dilated with Woolly hair ... 1 
Cardiomyopathy, Dilated 47
Chronic Lymphocytic Leukemia 242
Epidermolysis bullosa, lethal acantholyt... 2 
IGA Glomerulonephritis 454
Idiopathic pulmonary fibrosis 21
KERATOSIS PALMOPLANTARIS STRIATA II 1
Long QT syndrome 52
Lung Diseases, Interstitial 15
Palmoplantar keratosis 36 4.0
Skin Fragility-Woolly Hair Syndrome 1
Sudden Cardiac Death 7
Ventricular Fibrillation 10
Waldenstrons macroglobulinemia 765
atypical teratoid/rhabdoid tumor 1,095
cystic fibrosis 1,665
ductal carcinoma in situ 1,745
group 4 medulloblastoma 1,875
interstitial cystitis 2,299
interstitial lung disease 291 2.0
lung adenocarcinoma 2,713
lung cancer 4,466
lung carcinoma 2,844
malignant mesothelioma 3,162
non-small cell lung cancer 2,798
oligodendroglioma 2,849
ovarian cancer 8,484
posterior fossa group A ependymoma 1,511

Expression

  Differential Expression (15)

Synonym

Accession P15924 B2RTT2 D7RX09 O75993 Q14189 Q9UHN4 DP
Symbols DP
DCWHKTA

Gene

DSP

PDB

1LM5   1LM7   3R6N   5DZZ  

 GWAS Trait (1)

Gene RIF (64)

PMID Text
26604139 Syndrome featuring erythrokeratodermia and cardiomyopathy (EKC) caused by mutation in DSP was described. Specific region of DSP protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin was identified.
26073755 novel de novo heterozygous missense mutation caused severe dermatitis, multiple allergies, and metabolic wasting syndrome
25900994 Case Report: PKP2/DSP mutations in patient with Brugada syndrome and ventricular tachycardia.
25771974 Patients whose MPM tissues expressed elevated mRNA levels of BIRC5, DSP, NME2, and THBS2 showed a statistically significant shorter overall survival.
25733715 GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
25616123 There is higher incidence of Myocarditis in DSP mutation carriers affected by Arrhythmogenic right ventricular dysplasia.
25516398 Genetic testing revealed a novel combination of two heterozygous mutations in the DSP gene encoding desmoplakin
25227139 Case Reports: desmoplakin mutations associated with variable woolly hair or hypotrichosis, palmoplantar keratoderma, and cardiac manifestations.
25225338 a subset of arrhythmogenic cardiomyopathy mutations, in addition to a mutation associated with skin fragility/woolly hair syndrome, impair gap junction localization and function by misregulating DP-EB1 interactions and altering microtubule dynamics.
25010392 our data indicate that DP phosphorylation at S2849 represents an important mechanism in pemphigus pathogenesis
More...

AA Sequence

MSCNGGSHPRINTLGRMIRAESGPDLRYEVTSGGGGTSRMYYSRRGVITDQNSDGYCQTGTMSRHQNQNT      1 - 70
IQELLQNCSDCLMRAELIVQPELKYGDGIQLTRSRELDECFAQANDQMEILDSLIREMRQMGQPCDAYQK     71 - 140
RLLQLQEQMRALYKAISVPRVRRASSKGGGGYTCQSGSGWDEFTKHVTSECLGWMRQQRAEMDMVAWGVD    141 - 210
LASVEQHINSHRGIHNSIGDYRWQLDKIKADLREKSAIYQLEEEYENLLKASFERMDHLRQLQNIIQATS    211 - 280
REIMWINDCEEEELLYDWSDKNTNIAQKQEAFSIRMSQLEVKEKELNKLKQESDQLVLNQHPASDKIEAY    281 - 350
MDTLQTQWSWILQITKCIDVHLKENAAYFQFFEEAQSTEAYLKGLQDSIRKKYPCDKNMPLQHLLEQIKE    351 - 420
LEKEREKILEYKRQVQNLVNKSKKIVQLKPRNPDYRSNKPIILRALCDYKQDQKIVHKGDECILKDNNER    421 - 490
SKWYVTGPGGVDMLVPSVGLIIPPPNPLAVDLSCKIEQYYEAILALWNQLYINMKSLVSWHYCMIDIEKI    491 - 560
RAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMFGDDDKRKIQSQFTDAQKHYQTLVIQLPGYP    561 - 630
QHQTVTTTEITHHGTCQDVNHNKVIETNRENDKQETWMLMELQKIRRQIEHCEGRMTLKNLPLADQGSSH    631 - 700
HITVKINELKSVQNDSQAIAEVLNQLKDMLANFRGSEKYCYLQNEVFGLFQKLENINGVTDGYLNSLCTV    701 - 770
RALLQAILQTEDMLKVYEARLTEEETVCLDLDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHS    771 - 840
QTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDKQIDFRLWDLEKQIKQLRNYRDNYQAFCKWLYDAKRRQD    841 - 910
SLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKDYELQLASYTSGLETLLNIPI    911 - 980
KRTMIQSPSGVILQEAADVHARYIELLTRSGDYYRFLSEMLKSLEDLKLKNTKIEVLEEELRLARDANSE    981 - 1050
NCNKNKFLDQNLQKYQAECSQFKAKLASLEELKRQAELDGKSAKQNLDKCYGQIKELNEKITRLTYEIED   1051 - 1120
EKRRRKSVEDRFDQQKNDYDQLQKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYEN   1121 - 1190
ELAKVRNHYNEEMSNLRNKYETEINITKTTIKEISMQKEDDSKNLRNQLDRLSRENRDLKDEIVRLNDSI   1191 - 1260
LQATEQRRRAEENALQQKACGSEIMQKKQHLEIELKQVMQQRSEDNARHKQSLEEAAKTIQDKNKEIERL   1261 - 1330
KAEFQEEAKRRWEYENELSKVRNNYDEEIISLKNQFETEINITKTTIHQLTMQKEEDTSGYRAQIDNLTR   1331 - 1400
ENRSLSEEIKRLKNTLTQTTENLRRVEEDIQQQKATGSEVSQRKQQLEVELRQVTQMRTEESVRYKQSLD   1401 - 1470
DAAKTIQDKNKEIERLKQLIDKETNDRKCLEDENARLQRVQYDLQKANSSATETINKLKVQEQELTRLRI   1471 - 1540
DYERVSQERTVKDQDITRFQNSLKELQLQKQKVEEELNRLKRTASEDSCKRKKLEEELEGMRRSLKEQAI   1541 - 1610
KITNLTQQLEQASIVKKRSEDDLRQQRDVLDGHLREKQRTQEELRRLSSEVEALRRQLLQEQESVKQAHL   1611 - 1680
RNEHFQKAIEDKSRSLNESKIEIERLQSLTENLTKEHLMLEEELRNLRLEYDDLRRGRSEADSDKNATIL   1681 - 1750
ELRSQLQISNNRTLELQGLINDLQRERENLRQEIEKFQKQALEASNRIQESKNQCTQVVQERESLLVKIK   1751 - 1820
VLEQDKARLQRLEDELNRAKSTLEAETRVKQRLECEKQQIQNDLNQWKTQYSRKEEAIRKIESEREKSER   1821 - 1890
EKNSLRSEIERLQAEIKRIEERCRRKLEDSTRETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWT   1891 - 1960
VDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLLKGKKSVEEVASEIQPFLRGAGSIAGASASPKEKYS   1961 - 2030
LVEAKRKKLISPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPF   2031 - 2100
SGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYRSLNDPRDSQK   2101 - 2170
NFVDPVTKKKVSYVQLKERCRIEPHTGLLLLSVQKRSMSFQGIRQPVTVTELVDSGILRPSTVNELESGQ   2171 - 2240
ISYDEVGERIKDFLQGSSCIAGIYNETTKQKLGIYEAMKIGLVRPGTALELLEAQAATGFIVDPVSNLRL   2241 - 2310
PVEEAYKRGLVGIEFKEKLLSAERAVTGYNDPETGNIISLFQAMNKELIEKGHGIRLLEAQIATGGIIDP   2311 - 2380
KESHRLPVDIAYKRGYFNEELSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKK   2381 - 2450
KQVQTSQKNTLRKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLV   2451 - 2520
DRKTGSQYDIQDAIDKGLVDRKFFDQYRSGSLSLTQFADMISLKNGVGTSSSMGSGVSDDVFSSSRHESV   2521 - 2590
SKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERGIVDSITGQRLLEAQACTGGI   2591 - 2660
IHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEGVKGKKKMSAAEAVKEKWLPYEAGQRFLEFQ   2661 - 2730
YLTGGLVDPEVHGRISTEEAIRKGFIDGRAAQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGL   2731 - 2800
RLLEAASVSSKGLPSPYNMSSAPGSRSGSRSGSRSGSRSGSRSGSRRGSFDATGNSSYSYSYSFSSSSIG   2801 - 2870
H//

Text Mined References (134)

PMID Year Title
26604139 2016 Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
26073755 2015 Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
25900994 2015 Epicardial Ventricular Tachycardia Ablation in a Patient With Brugada ECG Pattern and Mutation of PKP2 and DSP Genes.
25771974 2015 Expression status of candidate genes in mesothelioma tissues and cell lines.
25733715 2015 GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
25616123 2015 Genetics of myocarditis in arrhythmogenic right ventricular dysplasia.
25516398 Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.
25227139 2015 Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
25225338 2014 Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.
25010392 2014 A desmoplakin point mutation with enhanced keratin association ameliorates pemphigus vulgaris autoantibody-mediated loss of cell cohesion.
More...