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; AllianceGenome:HGNC:27424
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:: 17

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (110643245..110839468)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (111528070..111723237)
105.20220307	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?

RBM20(S639G) mutation is a high genetic risk factor for premature death through RNA-protein condensates.
Title: RBM20S639G mutation is a high genetic risk factor for premature death through RNA-protein condensates.
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Title: Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy.
Title: RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy.
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.
Title: Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.
The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.
Title: The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.
Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations.
Title: Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations.
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.
Title: Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.
RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart.
Title: RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart.
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.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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: 441 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 pre-mRNA intronic binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables splicing factor binding	IDA Inferred from Direct Assay 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 formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity 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
involved_in regulation of mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed

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

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 Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

110643245..110839468

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016103.3 → XP_016871592.1 RNA-binding protein 20 isoform X1
XM_017016104.3 → 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)
XM_047425116.1 → XP_047281072.1 RNA-binding protein 20 isoform X2