| Tbio | RNA-binding protein 20 |
RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin).
This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]
This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]
Comments
| Disease | Target Count |
|---|---|
| Cardiomyopathies | 90 |
| Cardiomyopathy, Dilated | 47 |
| Cardiomyopathy, Dilated, 1DD | 2 |
| Disease | Target Count | P-value |
|---|---|---|
| posterior fossa group A ependymoma | 1511 | 3.81865850751076E-12 |
| pancreatic cancer | 2300 | 1.16657306319151E-4 |
| atypical teratoid / rhabdoid tumor | 4369 | 1.24957437344086E-4 |
| nasopharyngeal carcinoma | 1056 | 0.00568603602143097 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2988 | 0.0188484138039163 |
| intraductal papillary-mucinous adenoma (IPMA) | 2956 | 0.0220983707074402 |
| pediatric high grade glioma | 2712 | 0.0304669947191529 |
| chronic rhinosinusitis | 512 | 0.0405651777829374 |
| acute myeloid leukemia | 785 | 0.0442774707553093 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Dilated cardiomyopathy | 51 | 5.286 | 2.6 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cardiomyopathy | 110 | 0.0 | 4.0 |
| Disease | Target Count |
|---|---|
| Familial isolated dilated cardiomyopathy | 41 |
| dilated cardiomyopathy 1DD | 2 |
| Disease | Target Count |
|---|---|
| Cardiomyopathy, dilated 1DD | 1 |
| Disease | log2 FC | p |
|---|---|---|
| posterior fossa group A ependymoma | 2.300 | 0.000 |
| atypical teratoid / rhabdoid tumor | 3.000 | 0.000 |
| intraductal papillary-mucinous adenoma (... | -1.200 | 0.022 |
| intraductal papillary-mucinous carcinoma... | -1.300 | 0.019 |
| pancreatic cancer | -1.500 | 0.000 |
| pediatric high grade glioma | 1.100 | 0.030 |
| acute myeloid leukemia | -1.500 | 0.044 |
| nasopharyngeal carcinoma | -1.100 | 0.006 |
| chronic rhinosinusitis | -1.069 | 0.041 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Opossum | EggNOG Inparanoid |
| Platypus | EggNOG Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG |
| 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... |
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 //
| 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... |
