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

Summary

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
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Genomic context

Location:: 10q25.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	10	NC_000010.11 (110641933..110839471)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (112404094..112599226)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Emerging Role of the RBM20 and PTBP1 Ribonucleoproteins in Heart Development and Cardiovascular Diseases.
Title: The Emerging Role of the RBM20 and PTBP1 Ribonucleoproteins in Heart Development and Cardiovascular Diseases.
Dysregulated ribonucleoprotein granules promote cardiomyopathy in RBM20 gene-edited pigs.
Title: Dysregulated ribonucleoprotein granules promote cardiomyopathy in RBM20 gene-edited pigs.
Our data establish RBM20 cardiomyopathy as a highly penetrant and arrhythmogenic cardiomyopathy
Title: Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization.
Title: Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization.
RBM20 mutations/loss disturbs Ca(2+) handling and leads to more proarrhythmic Ca(2+) releases from the sarcoplasmic reticulum.
Title: RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.
The study showed that genotypic and phenotypic characterization of a family displaying dilated cardiomyopathy (DCM). 6 members of a family carrying the RBM20 mutation NM_001134363.2:c.1900C>T. The findings are the first report of co-segregation of the mutation in 6 family members, supporting its pathogenic role.
Title: Phenotypic Heterogeneity within Members of a Family Carrying the Same RBM20 Mutation R634W.
The carboxy-terminal region of RBM20 is necessary for exon repression.RBM20 binds the cluster containing most RBM20 binding motifs through its RNA recognition motif domain and represses the upstream and downstream introns.Repressor activity of RBM20 is counteracted by PTB4.
Title: Molecular basis of titin exon exclusion by RBM20 and the novel titin splice regulator PTB4.
These results indicate that RBM20 and PTBP1 play a role in the actin filament functional organization mediated by FHOD3 isoforms and suggest their possible involvement in heart diseases.
Title: RNA-binding proteins RBM20 and PTBP1 regulate the alternative splicing of FHOD3.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-54184 (e-PCR)
- UniSTS:75046

SHGC-145640 (e-PCR)
- UniSTS:174698

SHGC-147317 (e-PCR)
- UniSTS:175737

SHGC-82989 (e-PCR)
- UniSTS:101273

SHGC-80917 (e-PCR)
- UniSTS:102556

WI-10472 (e-PCR)
- UniSTS:42446

WI-11215 (e-PCR)
- UniSTS:41168

Homology

Homologs of the RBM20 gene: The RBM20 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 360 organisms have orthologs with human gene RBM20
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of RNA splicing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in 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; truncated RNA binding motif 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

NG_021177.1 RefSeqGene

Range

5001..200075

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_382

mRNA and Protein(s)

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, ENST00000369519.4

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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p13 Primary Assembly

Range

110641933..110839471

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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