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

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Summary

Official Symbol: RBM20provided by HGNC
Official Full Name: RNA binding motif protein 20provided by HGNC
Primary source: HGNC:27424
Locus tag: RP11-313D6.1
See related: Ensembl:ENSG00000203867; MIM:613171; Vega:OTTHUMG00000019043
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 likely binds RNA. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Mar 2010]

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Genomic context

Location :: 10q25.2

Sequence :: Chromosome: 10; NC_000010.10 (112404155..112599227)

See RBM20 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Dilated cardiomyopathy in patients with RBM20 mutations is associated with advanced disease.
Title: Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
RBM20 missense mutation is a novel gene underlying one form of dilated cardiomyopathy
Title: Splicing and dilated cardiomyopathy one gene to rule them all?
RBM20 as a dilated cardiomyopathy gene and reveal a mutation hotspot in the RS domain. Individuals in each family revealed distinct heterozygous missense mutations in exon 9 of RBM20, encoding ribonucleic acid (RNA) binding motif protein 20.
Title: Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.

Submit: New GeneRIF Correction

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Function	Evidence Code	Pubs
RNA binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
intracellular	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: probable RNA-binding protein 20

Names: probable RNA-binding protein 20; RNA-binding motif protein 20

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NCBI Reference Sequences (RefSeq)

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..200073

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001134363.1 → NP_001127835.1 probable RNA-binding protein 20

Status: REVIEWED

Source sequence(s)

EU822950

Consensus CDS

CCDS44477.1

UniProtKB/Swiss-Prot

Q5T481

Related

ENSP00000358532, OTTHUMP00000020478, ENST00000369519, OTTHUMT00000050339

Conserved Domains (3) summary

cd00590
Location:519 – 589
Blast Score: 107

RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...

PTZ00395
Location:185 – 362
Blast Score: 90

PTZ00395; Sec24-related protein; Provisional

cl09952
Location:1159 – 1193
Blast Score: 104

zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

112404155..112599227

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

106033283..106228064

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL136368.24	CAI40091.1
		CAI40093.1
genomic	AL136368.24	CAI40091.1
		CAI40093.1
genomic	AL359260.20	CAI16577.1
genomic	AL512508.8 (2001..74523)	None
mRNA	AK302802.1	BAG64004.1
mRNA	AL832084.1	None
mRNA	BX648563.1	None
mRNA	EU822950.1	ACF49364.1