Property Summary

NCBI Gene PubMed Count 14
Grant Count 7
R01 Count 7
Funding $876,513.34
PubMed Score 20.20
PubTator Score 16.30

Knowledge Summary

Patent

No data available

Expression

Gene RIF (11)

PMID Text
26604136 RBM20 familial dilated cardiomyopathy is a developmental disorder initiated by molecular defects that pattern maladaptive cellular mechanisms of pathological cardiac remodeling.
24960161 In failing hearts, reduced expression of RBM20 affected alternative splicing of several direct targets, indicating that differences in RBM20 expression may affect cardiac function.
24584570 Study demonstrates that Rbm20 is expressed in early cardiogenesis and functions in the patterning of cardiac gene expression.
23886709 Nuclear retention domains have been identified in RBM20 which is a nuclear protein regulating alternative splicing of expressed genes.
23861363 The RBM20 c.1907 G>A (p.Arg636His) was confirmed in all 3 affected subjects who underwent exome sequencing.
22466703 Deep sequencing of the human and rat cardiac transcriptome revealed an RBM20-dependent regulation of alternative splicing
22004663 Mutations in RBM20 identified in approximately 3% of individuals with dilated cardiomyopathy. Mutations in RBM20 did not adversely affect survival or ventricular arrhythmias in subjects with dilated cardiomyopathy.
20590677 Dilated cardiomyopathy in patients with RBM20 mutations is associated with advanced disease.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19712805 RBM20 missense mutation is a novel gene underlying one form of dilated cardiomyopathy
More...

AA Sequence

MVLAAAMSQDADPSGPEQPDRVACSVPGARASPAPSGPRGMQQPPPPPQPPPPPQAGLPQIIQNAAKLLD      1 - 70
KNPFSVSNPNPLLPSPASLQLAQLQAQLTLHRLKLAQTAVTNNTAAATVLNQVLSKVAMSQPLFNQLRHP     71 - 140
SVITGPHGHAGVPQHAAAIPSTRFPSNAIAFSPPSQTRGPGPSMNLPNQPPSAMVMHPFTGVMPQTPGQP    141 - 210
AVILGIGKTGPAPATAGFYEYGKASSGQTYGPETDGQPGFLPSSASTSGSVTYEGHYSHTGQDGQAAFSK    211 - 280
DFYGPNSQGSHVASGFPAEQAGGLKSEVGPLLQGTNSQWESPHGFSGQSKPDLTAGPMWPPPHNQPYELY    281 - 350
DPEEPTSDRTPPSFGGRLNNSKQGFIGAGRRAKEDQALLSVRPLQAHELNDFHGVAPLHLPHICSICDKK    351 - 420
VFDLKDWELHVKGKLHAQKCLVFSENAGIRCILGSAEGTLCASPNSTAVYNPAGNEDYASNLGTSYVPIP    421 - 490
ARSFTQSSPTFPLASVGTTFAQRKGAGRVVHICNLPEGSCTENDVINLGLPFGKVTNYILMKSTNQAFLE    491 - 560
MAYTEAAQAMVQYYQEKSAVINGEKLLIRMSKRYKELQLKKPGKAVAAIIQDIHSQRERDMFREADRYGP    561 - 630
ERPRSRSPVSRSLSPRSHTPSFTSCSSSHSPPGPSRADWGNGRDSWEHSPYARREEERDPAPWRDNGDDK    631 - 700
RDRMDPWAHDRKHHPRQLDKAELDERPEGGRPHREKYPRSGSPNLPHSVSSYKSREDGYYRKEPKAKWDK    701 - 770
YLKQQQDAPGRSRRKDEARLRESRHPHPDDSGKEDGLGPKVTRAPEGAKAKQNEKNKTKRTDRDQEGADD    771 - 840
RKENTMAENEAGKEEQEGMEESPQSVGRQEKEAEFSDPENTRTKKEQDWESESEAEGESWYPTNMEELVT    841 - 910
VDEVGEEEDFIVEPDIPELEEIVPIDQKDKICPETCLCVTTTLDLDLAQDFPKEGVKAVGNGAAEISLKS    911 - 980
PRELPSASTSCPSDMDVEMPGLNLDAERKPAESETGLSLEDSDCYEKEAKGVESSDVHPAPTVQQMSSPK    981 - 1050
PAEERARQPSPFVDDCKTRGTPEDGACEGSPLEEKASPPIETDLQNQACQEVLTPENSRYVEMKSLEVRS   1051 - 1120
PEYTEVELKQPLSLPSWEPEDVFSELSIPLGVEFVVPRTGFYCKLCGLFYTSEETAKMSHCRSAVHYRNL   1121 - 1190
QKYLSQLAEEGLKETEGADSPRPEDSGIVPRFERKKL                                    1191 - 1227
//

Text Mined References (15)

PMID Year Title
26604136 2016 Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells.
24960161 2014 RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing.
24584570 2014 Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy.
23886709 2013 Identification of nuclear retention domains in the RBM20 protein.
23861363 2013 Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22561820 2012 King of hearts: a splicing factor rules cardiac proteins.
22466703 2012 RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
22004663 2012 Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.
21846512 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
More...