U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 282996, updated on 25-Jun-2022

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See RBM20 in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378483 Neighboring gene small nucleolar RNA U13 Neighboring gene structural maintenance of chromosomes 3 Neighboring gene Sharpr-MPRA regulatory region 1411 Neighboring gene uncharacterized LOC124902498 Neighboring gene RN7SK pseudogene 288 Neighboring gene RNA, 5S ribosomal pseudogene 327 Neighboring gene uncharacterized LOC124902499 Neighboring gene CRISPRi-validated cis-regulatory element chr10.4148 Neighboring gene uncharacterized LOC124902500

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001134363.3NP_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:11591193
    ZnF_U1; U1-like zinc finger
    cd12685
    Location:518593
    RRM_RBM20; RNA recognition motif of vertebrate RNA-binding protein 20 (RBM20)
    pfam08648
    Location:612706
    DUF1777; Protein of unknown function (DUF1777)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    110643245..110839468
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016103.3XP_016871592.1  RNA-binding protein 20 isoform X1

  2. XM_017016104.3XP_016871593.1  RNA-binding protein 20 isoform X2

    Conserved Domains (3) summary
    smart00451
    Location:10311065
    ZnF_U1; U1-like zinc finger
    cd12685
    Location:390465
    RRM_RBM20; RNA recognition motif of vertebrate RNA-binding protein 20 (RBM20)
    pfam08648
    Location:484578
    DUF1777; Protein of unknown function (DUF1777)
  3. XM_047425116.1XP_047281072.1  RNA-binding protein 20 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    111528070..111723237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)