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RBM20 RNA binding motif protein 20 [ Homo sapiens (human) ]

Gene ID: 282996, updated on 13-Feb-2019

Summary

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Official Symbol
RBM20provided by HGNC
Official Full Name
RNA binding motif protein 20provided by HGNC
Primary source
HGNC:HGNC:27424
See related
Ensembl:ENSG00000203867 MIM:613171
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Biased expression in heart (RPKM 10.3), salivary gland (RPKM 1.2) and 5 other tissues See more
Orthologs
mouse all

Genomic context

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See RBM20 in Genome Data Viewer
Location:
10q25.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (110641933..110839471)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (112404155..112599227)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378483 Neighboring gene structural maintenance of chromosomes 3 Neighboring gene Sharpr-MPRA regulatory region 1411 Neighboring gene uncharacterized LOC112268066 Neighboring gene RNA, 7SK small nuclear pseudogene 288 Neighboring gene RNA, 5S ribosomal pseudogene 327 Neighboring gene PDCD4 antisense RNA 1 Neighboring gene programmed cell death 4 Neighboring gene microRNA 4680

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes. Streckfuss-Bömeke K, et al. J Mol Cell Cardiol, 2017 Dec. PMID 28941705
  2. RBM20 Regulates Circular RNA Production From the Titin Gene. Khan MA, et al. Circ Res, 2016 Oct 14. PMID 27531932
  3. Emerging Role for RBM20 and its Splicing Substrates in Cardiac Function and Heart Failure. Ma J, et al. Curr Pharm Des, 2016. PMID 27396593
  4. Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells. Wyles SP, et al. Hum Mol Genet, 2016 Jan 15. PMID 26604136, Free PMC Article
  5. Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. Wells QS, et al. Circ Cardiovasc Genet, 2013 Aug. PMID 23861363, Free PMC Article

See all (21) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. The first light on molecular mechanisms of RBM20-dependent pathological cardiac remodeling leading to DCM.
    Title: Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.
  2. Mutations in RBM20 cause dilated cardiomyopathy along with dysregulated isoform switch.
    Title: Emerging Role for RBM20 and its Splicing Substrates in Cardiac Function and Heart Failure.
  3. Heterozygous loss of RBM20 suffices to profoundly impair myocyte biomechanics by its disturbance of TTN splicing causing dilated cardiomyopathy.
    Title: A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
  4. RBM20 is crucial for the formation of a subset of circular RNAs that originate from the I-band of the titin gene.
    Title: RBM20 Regulates Circular RNA Production From the Titin Gene.
  5. RBM20 familial dilated cardiomyopathy is a developmental disorder initiated by molecular defects that pattern maladaptive cellular mechanisms of pathological cardiac remodeling.
    Title: Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells.
  6. In failing hearts, reduced expression of RBM20 affected alternative splicing of several direct targets, indicating that differences in RBM20 expression may affect cardiac function.
    Title: RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing.
  7. Study demonstrates that Rbm20 is expressed in early cardiogenesis and functions in the patterning of cardiac gene expression.
    Title: Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy.
  8. The RBM20 c.1907 G>A (p.Arg636His) was confirmed in all 3 affected subjects who underwent exome sequencing.
    Title: Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.
  9. Nuclear retention domains have been identified in RBM20 which is a nuclear protein regulating alternative splicing of expressed genes.
    Title: Identification of nuclear retention domains in the RBM20 protein.
  10. 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.
    Title: Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Dilated cardiomyopathy 1DD
MedGen: C2750995 OMIM: 613172
Compare labs
Primary dilated cardiomyopathy
MedGen: C0007193
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
RNA splicing IEA
Inferred from Electronic Annotation
more info
  
heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
mRNA processing IEA
Inferred from Electronic Annotation
more info
  
positive regulation of RNA splicing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
RNA-binding protein 20
Names
probable RNA-binding protein 20

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021177.1 RefSeqGene

    Range
    5001..200075
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_382

mRNA and Protein(s)

  1. NM_001134363.3 → NP_001127835.2  RNA-binding protein 20

    Status: REVIEWED

    Source sequence(s)
    AL359260, EU822950, KF459660
    Consensus CDS
    CCDS44477.1
    UniProtKB/Swiss-Prot
    Q5T481
    Related
    ENSP00000358532.3, ENST00000369519.3
    Conserved Domains (3) summary
    smart00451
    Location:1159 → 1193
    ZnF_U1; U1-like zinc finger
    cd12685
    Location:518 → 593
    RRM_RBM20; RNA recognition motif of vertebrate RNA-binding protein 20 (RBM20)
    pfam08648
    Location:612 → 706
    DUF1777; Protein of unknown function (DUF1777)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    110641933..110839471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016103.2 → XP_016871592.1  RNA-binding protein 20 isoform X1

  2. XM_017016104.2 → XP_016871593.1  RNA-binding protein 20 isoform X2

    Conserved Domains (3) summary
    smart00451
    Location:1031 → 1065
    ZnF_U1; U1-like zinc finger
    cd12685
    Location:390 → 465
    RRM_RBM20; RNA recognition motif of vertebrate RNA-binding protein 20 (RBM20)
    pfam08648
    Location:484 → 578
    DUF1777; Protein of unknown function (DUF1777)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T481.3 GenPept UniProtKB/Swiss-Prot:Q5T481

Gene LinkOut

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