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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RBM20 Gene

protein-coding   GIFtS: 45
GCID: GC10P112395

RNA binding motif protein 20

 Explore 3 diseases affiliated with
RBM20 via our new
 Human Malady Compendium 
Biological research products
for RBM20
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RNA Binding Motif Protein 201 2
RNA-Binding Motif Protein 202 3
Probable RNA-Binding Protein 202
RNA-Binding Protein 202

External Ids:    HGNC: 274241   Entrez Gene: 2829962   Ensembl: ENSG000002038677   OMIM: 6131715   UniProtKB: Q5T4813   

Export aliases for RBM20 gene to outside databases

Previous GC identifers: GC10P112199 GC10P112530 GC10P106033


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RBM20:
This gene encodes a protein that likely binds RNA. Mutations in this gene have been associated with familial dilated
cardiomyopathy. (provided by RefSeq, Mar 2010)

UniProtKB/Swiss-Prot: RBM20_HUMAN, Q5T481
Function: 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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBM20 gene promoter:
         Tal-1   E4BP4   HNF-1A   E47   C/EBPalpha   S8   HNF-1   FOXJ2   TGIF   RSRFC4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RBM20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBM20


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q25.2   Ensembl cytogenetic band:  10q25.2   HGNC cytogenetic band: 10q25.3

RBM20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBM20 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P112395:  view genomic region     (about GC identifiers)

Start:
112,404,155 bp from pter      End:
112,599,227 bp from pter
Size:
195,073 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RBM20_HUMAN, Q5T481 (See protein sequence)
Recommended Name: RNA-binding protein 20  
Size: 1227 amino acids; 134357 Da
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=CAI16577.1; Type=Erroneous gene model prediction; Sequence=CAI40091.1; Type=Erroneous gene
model prediction; Sequence=CAI40093.1; Type=Erroneous gene model prediction;
Secondary accessions: A6NIP5 B5A868 Q5JVI1

Explore the universe of human proteins at neXtProt for RBM20: NX_Q5T481

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T481

  • RBM20 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001127835.1  
    ENSEMBL proteins: 
     ENSP00000358532  

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    Uscn Proteins for RBM20

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--


    RBM20 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RBM20 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR003604 Znf_U1
     IPR012677 Nucleotide-bd_a/b_plait
     IPR015880 Znf_C2H2-like
     IPR000690 Znf_C2H2_matrin
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q5T481

    ProtoNet protein and cluster: Q5T481

    UniProtKB/Swiss-Prot: RBM20_HUMAN, Q5T481
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RBM20_HUMAN, Q5T481
    Function: 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)

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003723RNA binding ISS--
    GO:0008270zinc ion binding IEA--


    RBM20 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RBM20

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0007507heart development IMP--
    GO:0008380RNA splicing IEA--
    GO:0033120positive regulation of RNA splicing IMP--


    RBM20 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RBM20
    Search CenterWatch for drugs/clinical trials and news about RBM20 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RBM20 gene: 
    NM_001134363.1  

    Unigene Cluster for RBM20:

    RNA binding motif protein 20
    Hs.116630  [show with all ESTs]
    Unigene Representative Sequence: EU822950
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369519(uc001kzf.2) ENST00000471172 ENST00000480343 ENST00000465774


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    hsa-miR-607 hsa-miR-4254 hsa-miR-106a hsa-miR-15a hsa-miR-200a hsa-miR-605 hsa-miR-519a hsa-miR-3142
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RBM20

    Additional cDNA sequence: 

    AK302802.1 AL832084.1 BX648563.1 EU822950.1 

    4 DOTS entries:

    DT.101960682  DT.121303391  DT.121303394  DT.65287565 

    16 AceView cDNA sequences:

    BX648563 BU607932 CK429431 AA195793 AL832084 AI866754 AI539118 BU622156 
    AL121071 BM562762 AI143495 AL121072 CB044335 AA668300 CB044334 AI378995 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RBM20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCCTTCACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    RBM20 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    BoneZeugopod Long BoneBone
    LimbAutopodLimb
    LimbZeugopodLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)

    See RBM20 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBM20

    SOURCE GeneReport for Unigene cluster: Hs.116630

    UniProtKB/Swiss-Prot: RBM20_HUMAN, Q5T481
    Tissue specificity: Expressed in the heart

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM20

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RBM20 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RBM201 RNA binding motif protein 20 65.11(n)
    60.43(a)
      423892  XM_421755.3  XP_421755.3 
    lizard
    (Anolis carolinensis)
    Reptilia RBM206
    --
    53(a)
    1 ↔ 1
    3(45632422-45672171)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5555791 probable RNA-binding protein 20-like 55.15(n)
    50.96(a)
      555579  XM_678130.5  XP_683222.4 


    ENSEMBL Gene Tree for RBM20 (if available)
    TreeFam Gene Tree for RBM20 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RBM20 gene
    MATR32  ZNF6382  

    RBM20 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3761 NCBI SNPs in RBM20 are shown (see all 3761    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38146801,2
    C,F,--106032803(-) CCGAGC/AGCGCC 1 -- us2k13Minor allele frequency- A:0.15WA NA EA 358
    rs726413251,2
    C,--106032938(+) CCTCAC/AGCGGT 1 -- us2k13Minor allele frequency- A:0.26NA EA 242
    rs124156471,2
    C,F,H,--106033632(+) CGCTCG/TCCCCC 1 -- int11Minor allele frequency- T:0.50NA 4
    rs790619141,2
    C,F,--106033954(+) TGGTGC/ACCCTG 1 -- int11Minor allele frequency- A:0.03WA 118
    rs178277381,2
    C,F,H,--106035152(+) AGGGCG/ATCTGA 1 -- int110Minor allele frequency- A:0.15NA NS EA 652
    rs1169898621,2
    C,F,--106035359(+) AGGATG/AGAGAC 1 -- int11Minor allele frequency- A:0.03NA 120
    rs771608681,2
    F,--106035392(+) TGCTTG/ACTTTA 1 -- int11Minor allele frequency- A:0.03WA 118
    rs71010021,2
    C,F,--106036413(+) ATTGTA/GTATAA 1 -- int13Minor allele frequency- G:0.20WA 122
    rs122407571,2
    F,H,--106037186(+) TCACTC/TGGAAT 1 -- int16Minor allele frequency- T:0.07NS EA CSA WA 506
    rs122409621,2
    C,F,H,--106037350(+) AGTCAG/AAGAGA 1 -- int112Minor allele frequency- A:0.10NS EA NA CSA WA 1416

    HapMap Linkage Disequilibrium report for RBM20 (112404155 - 112599227 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RBM20
         1 CNV: 5612
    Human Gene Mutation Database (HGMD): RBM20

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RBM20 for disorders           About GeneDecksing

    OMIM gene information: 613171   
    OMIM disorders: 613172  
    UniProtKB/Swiss-Prot: RBM20_HUMAN, Q5T481
  • Defects in RBM20 are the cause of cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]. A disorder
  • characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and
    arrhythmia. Patients are at risk of premature death

    3 diseases for RBM20:    About MalaCards
    familial dilated cardiomyopathy    dilated cardiomyopathy    cardiomyopathy

    1 disease from the University of Copenhagen DISEASES database for RBM20:
    Dilated cardiomyopathy
    Human Genome Epidemiology (HuGE) Navigator: RBM20 (1 document)

    Export disorders for RBM20 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RBM20 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RBM20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in ribonucleic acid binding protein gene ca use familial dilated cardiomyopathy. (PubMed id 19712804)1, 2, 9 Brauch K.M....Olson T.M. (2009)
    2. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. (PubMed id 22466703)1, 2 Guo W....Gotthardt M. (2012)
    3. Identification of novel mutations in RBM20 in patient s with dilated cardiomyopathy. (PubMed id 20590677)1, 2 Li D....Hershberger R.E. (2010)
    4. Genetic variation in the alternative splicing regulato r RBM20 is associated with dilated cardiomyopathy. (PubMed id 22004663)1 Refaat M.M....Ellinor P.T. (2012)
    5. Clinical and mutational spectrum in a cohort of 105 u nrelated patients with dilated cardiomyopathy. (PubMed id 21846512)2 Millat G....Rousson R. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Splicing and dilated cardiomyopathy one gene to rule them all? (PubMed id 19712805)1 Macrae C.A. and McKenna W.J. (2009)
    8. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (2004)
    9. Dilated Cardiomyopathy Overview (PubMed id 20301486)1 Hershberger R.E....Parks S.B. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 282996 HGNC: 27424 AceView: RBM20 Ensembl:ENSG00000203867 euGenes: HUgn282996
    ECgene: RBM20 H-InvDB: RBM20

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RBM20 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RBM20 gene:
    Search GeneIP for patents involving RBM20

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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