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

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

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

Genomic context

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

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 FunctionsWhat'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
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

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

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

  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, ENST00000369519.3
    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 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_017016103.2XP_016871592.1  RNA-binding protein 20 isoform X1

  2. XM_017016104.2XP_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)
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