Property Summary

NCBI Gene PubMed Count 25
Grant Count 7
R01 Count 4
Funding $265,883.41
PubMed Score 13.34
PubTator Score 11.03

Knowledge Summary

Patent

No data available

Expression

Gene RIF (8)

PMID Text
25541130 Heterozygote Mypn(WT/Q526X) knock-in mice develop RCM due to persistence of mutant Mypn(Q526X) protein in the nucleus.
22892539 the clinical significance of myopalladin for the functional integrity of the sarcomeric apparatus and the protection against dilated cardiomyopathy
22286171 Two nonsense and 13 missense MYPN variants were identified in subjects with hypertrophic, dilated and/or restrictive cardiomyopathy.
20801532 mutations in PDLIM3 and MYPN are infrequent in hypertrophic cardiomyopathies
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18006477 myopalladin gene is a new gene associated with dilated cardiomyopathy and observed mutations in 3-4% of cases in a population. of European descent.
16385451 Observational study of gene-disease association. (HuGE Navigator)
12482578 myopalladin plays a signaling role in targeting and orienting nebulin during sarcomere assembly

AA Sequence

MQDDSIEASTSISQLLRESYLAETRHRGNNERSRAEPSSNPCHFGSPSGAAEGGGGQDDLPDLSAFLSQE      1 - 70
ELDESVNLARLAINYDPLEKADETQARKRLSPDQMKHSPNLSFEPNFCQDNPRSPTSSKESPQEAKRPQY     71 - 140
CSETQSKKVFLNKAADFIEELSSLFKSHSSKRIRPRACKNHKSKLESQNKVMQENSSSFSDLSERRERSS    141 - 210
VPIPIPADTRDNEVNHALEQQEAKRREAEQAASEAAGGDTTPGSSPSSLYYEEPLGQPPRFTQKLRSREV    211 - 280
PEGTRVQLDCIVVGIPPPQVRWYCEGKELENSPDIHIVQAGNLHSLTIAEAFEEDTGRYSCFASNIYGTD    281 - 350
STSAEIYIEGVSSSDSEGDPNKEEMNRIQKPNEVSSPPTTSAVIPPAVPQAQHLVAQPRVATIQQCQSPT    351 - 420
NYLQGLDGKPIIAAPVFTKMLQNLSASEGQLVVFECRVKGAPSPKVEWYREGTLIEDSPDFRILQKKPRS    421 - 490
MAEPEEICTLVIAEVFAEDSGCFTCTASNKYGTVSSIAQLHVRGNEDLSNNGSLHSANSTTNLAAIEPQP    491 - 560
SPPHSEPPSVEQPPKPKLEGVLVNHNEPRSSSRIGLRVHFNLPEDDKGSEASSEAGVVTTRQTRPDSFQE    561 - 630
RFNGQATKTPEPSSPVKEPPPVLAKPKLDSTQLQQLHNQVLLEQHQLQNPPPSSPKEFPFSMTVLNSNAP    631 - 700
PAVTTSSKQVKAPSSQTFSLARPKYFFPSTNTTAATVAPSSSPVFTLSSTPQTIQRTVSKESLLVSHPSV    701 - 770
QTKSPGGLSIQNEPLPPGPTEPTPPPFTFSIPSGNQFQPRCVSPIPVSPTSRIQNPVAFLSSVLPSLPAI    771 - 840
PPTNAMGLPRSAPSMPSQGLAKKNTKSPQPVNDDNIRETKNAVIRDLGKKITFSDVRPNQQEYKISSFEQ    841 - 910
RLMNEIEFRLERTPVDESDDEIQHDEIPTGKCIAPIFDKRLKHFRVTEGSPVTFTCKIVGIPVPKVYWFK    911 - 980
DGKQISKRNEHCKMRREGDGTCSLHIESTTSDDDGNYTIMAANPQGRISCSGHLMVQSLPIRSRLTSAGQ    981 - 1050
SHRGRSRVQERDKEPLQERFFRPHFLQAPGDMVAHEGRLCRLDCKVSGLPPPELTWLLNGQPVLPDASHK   1051 - 1120
MLVRETGVHSLLIDPLTQRDAGTYKCIATNKTGQNSFSLELSVVAKEVKKAPVILEKLQNCGVPEGHPVR   1121 - 1190
LECRVIGMPPPVFYWKKDNETIPCTRERISMHQDTTGYACLLIQPAKKSDAGWYTLSAKNEAGIVSCTAR   1191 - 1260
LDIYAQWHHQIPPPMSVRPSGSRYGSLTSKGLDIFSAFSSMESTMVYSCSSRSVVESDEL             1261 - 1320
//

Text Mined References (32)

PMID Year Title
25787250 2015 Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.
25541130 2014 Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy.
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22892539 2013 Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
22286171 2012 Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
22016770 2011 Multi-tasking role of the mechanosensing protein Ankrd2 in the signaling network of striated muscle.
21269460 2011 Initial characterization of the human central proteome.
20801532 2010 Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.
20395239 2010 Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
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